🏷

Classifications

Harrison's Part

Mechanistic Nosology

👪

Inheritance

1

Autosomal recessive HP:0000007

Both probands were homozygous, one for a missense and one for a stop-gain variant, and both came from consanguineous families. The parents of the stop-gain proband were heterozygous carriers. Heterozygous knockout mice are fertile.

Autosomal recessive inheritance

Show evidence (2 references)

PMID:32051257 SUPPORT Human clinical

"In the other consanguineous family A033, a homozygous stop-gain mutation c.690T>G (p.Tyr230*) of DZIP1 was identified in proband IV-1 and both parents are heterozygous carriers"

Homozygosity in a consanguineous proband with heterozygous carrier parents supports recessive inheritance.

PMID:32051257 SUPPORT Model organism

"Moreover, no obvious difference of above reproductive phenotypes was observed between the heterozygous mutated (Dzip1+/‒) male mice and the WT male mice"

Heterozygous knockout males are normal, consistent with a recessive mechanism.

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Discussions and Knowledge Gaps

1

Can ICSI give normal embryo development with DZIP1-deficient sperm, given that the sperm centrioles are also abnormal?

KNOWLEDGE GAP dzip1_centriole_post_fertilization

Attached to

pathophysiology#Defective Basal Body Maturation and Membrane Docking

ICSI bypasses the flagellar defect in most MMAF genotypes. In SPGF47 the sperm centrioles are also abnormal in number and orientation, and the sperm-derived centrioles organize the zygote's first mitotic spindle. The authors raise the possibility that this affects fertilization and cleavage. No ICSI outcome has been reported for a DZIP1 patient, so the entry records no treatment.

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"Therefore, the abnormality of sperm centrioles caused by deficiency of DZIP1 may have important influence on subsequent fertilisation and cleavage."

The source paper states the open question.

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Pathophysiology

3

Loss of DZIP1 Protein

The missense variant p.Arg63Gln lowers DZIP1 levels and the stop-gain p.Tyr230* removes the three coiled-coil domains. DZIP1 is undetectable in patient sperm, where it normally concentrates in the head and neck, the region that holds the sperm centrioles. DZIP1 is an adaptor at the mother centriole: it binds the appendage protein CEP164 and the IFT component IFT88, and it assembles the BBSome-DZIP1-PCM1 complex at centriolar satellites.

Spermatid CL:0000018 Sperm CL:0000019

DZIP1 hgnc:20908

Molecular adaptor activity GO:0060090 ↓ DECREASED

Centrosome GO:0005813 Centriole GO:0005814

Testis UBERON:0000473

Downstream

Defective Basal Body Maturation and Membrane Docking DZIP1 is required at the mother centriole to recruit appendage proteins and IFT machinery and to dock the basal body; without it the template for the axoneme is not prepared.

Show evidence (3 references)

PMID:32051257 SUPPORT In vitro / ex vivo

"the expression level of DZIP1 was obviously reduced for the p.Arg63Gln mutation, and DZIP1 was truncated for the p.Tyr230* mutation"

Transfected HEK293T cells show reduced or truncated DZIP1 for the two patient alleles.

PMID:32051257 SUPPORT Human clinical

"In the fertile control, DZIP1 immunostaining (red) was concentrated in sperm head and sperm neck. However, DZIP1 immunostaining was absent in the spermatozoa from DZIP1-mutated men."

DZIP1 protein is absent from patient sperm.

PMID:23955340 SUPPORT In vitro / ex vivo

"We show that DZIP1 colocalizes and interacts with CEP164, a protein localizing at appendages of the mother centrioles, and IFT88, a component of the intraflagellar transport (IFT) machinery."

Grounds the adaptor activity in binding to a centriole appendage protein and an IFT component.

Defective Basal Body Maturation and Membrane Docking

The sperm flagellum grows from the distal centriole, which must mature into a basal body and dock at the membrane. Patient sperm have abnormal centriole numbers and orientation (no centrin dot, or more than two), and IFT88 and IFT140 are mislocalized to the head and neck and absent from the tail. The authors attribute both the flagellar failure and the centriole disorder to centrosomal damage from DZIP1 loss.

Spermatid CL:0000018

Intraciliary transport GO:0042073 ↓ DECREASED Centriole assembly GO:0098534 ⚠ ABNORMAL

Centriole GO:0005814 Ciliary basal body GO:0036064

Testis UBERON:0000473

Downstream

Arrest of Sperm Axoneme Outgrowth Without a mature, docked basal body the axoneme does not grow.

Show evidence (2 references)

PMID:32051257 SUPPORT Human clinical

"More than half of spermatozoa had abnormal numbers of centrioles in subject A033 IV-1 with DZIP1 deficiency, which was a significant increase when compared with that in the control."

Centrin1 staining shows centriole number defects in patient sperm. Only the stop-gain proband was assessed.

PMID:32051257 SUPPORT Human clinical

"The immunostaining of IFT88 and IFT140 was weak or misplaced in sperm head, and absent in sperm tail."

IFT proteins are not delivered into the flagellum in patient sperm.

Arrest of Sperm Axoneme Outgrowth

The axoneme is absent or very short, so most sperm have no flagellum. Cross-sections of the axoneme could hardly be obtained, unlike other MMAF genes where the axoneme forms but is disorganized.

Sperm CL:0000019

Sperm flagellum assembly GO:0120316 ↓ DECREASED

Sperm flagellum GO:0036126

Testis UBERON:0000473

Animal models

Dzip1 knockout mouse Mouse recapitulates The knockout reproduces the predominantly flagellum-less sperm seen in patients.

Downstream

Absent sperm flagella

Short sperm flagella

Immotile sperm Sperm without a flagellum cannot move.

Male infertility Immotile sperm cannot reach or fertilize the oocyte in vivo.

Show evidence (2 references)

PMID:32051257 SUPPORT Human clinical

"Compared with the normal connecting piece and axoneme in the spermatozoon of a control subject, the longitudinal sections of the spermatozoa from the DZIP1-mutated men presented with absent or very short axoneme."

Electron microscopy of patient sperm shows the axoneme fails to form.

PMID:32051257 SUPPORT Human clinical

"The sperm of DZIP1-mutated men mostly presented with absent or very short axoneme, which leaded to the technical challenge in observing cross-sections of the axoneme."

Contrasts the DZIP1 lesion with other MMAF genes, where a disorganized axoneme is still visible.

⬡

Pathograph

Use Group by to collapse related nodes into one box. Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.

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Phenotypes

5

Male infertility Reproductive HP:0003251

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"Overall, in humans and mice, we found that the DZIP1 deficiency caused by homozygous DZIP1 mutations resulted in male infertility characterised by asthenoteratospermia with the damage of both flagellar formation and sperm centrioles"

Male infertility in DZIP1-deficient men and mice.

Absent sperm flagella Reproductive HP:0032558

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"Notably, the major flagellar malformation in DZIP1-mutated men was absent flagella, accounting for more than 90% spermatozoa"

Absent flagella in most patient sperm.

Short sperm flagella Reproductive HP:0032559

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"Compared with the spermatozoa from a control sample, various morphological abnormalities of spermatozoa from DZIP1-mutated men were observed, such as short and absent flagella"

Short flagella in patient sperm.

Immotile sperm Reproductive HP:0012208

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"The spermatozoa of both probands consistently presented as immotile"

Immotile sperm in both probands.

Oligozoospermia Reproductive HP:0000798

Left without an upstream pathophysiology edge on purpose. The source paper reports the low count but does not explain it, so linking it to the flagellar or centriole defect would be a guess.

Show evidence (2 references)

PMID:32051257 SUPPORT Human clinical

"Semen analysis showed that the sperm concentration was decreased compared with the standard value of WHO"

Reduced sperm concentration in both probands.

PMID:32051257 SUPPORT Human clinical

"The total sperm counts of the two DZIP1-mutated patients were obviously decreased (less than 21 million/ejaculate), while those of the patients with other mutations were reduced in only a portion of cases, or even totally normal."

Low total count is consistent in DZIP1 patients and unusual among MMAF genotypes.

🧬

Genetic Associations

1

DZIP1 (Causal)

Gene: DZIP1 hgnc:20908 relationship_type: CAUSATIVE variant_origin: GERMLINE

Show evidence (2 references)

PMID:32051257 SUPPORT Human clinical

"The first proband had a homozygous missense mutation c.188G>A (p.Arg63Gln) of DZIP1 and the second proband had a homozygous stop-gain mutation c.690T>G (p.Tyr230*)."

Primary gene-disease report with both causal alleles.

PMID:32051257 SUPPORT Human clinical

"we identified homozygous DZIP1 mutations in 2 (3.1%) out of 65 unrelated Han Chinese men affected with asthenoteratospermia"

Frequency of DZIP1 cases in the discovery MMAF cohort.

🔬

Diagnosis

3

Light microscopic semen and sperm morphology analysis (Post-test confirmation)

Semen analysis with modified Papanicolaou-stained sperm morphology assessment under light microscopy demonstrates oligoasthenoteratozoospermia with absent flagella in >90% of spermatozoa, short flagella in the remainder, and complete absence of progressive motility.

Microscopy NCIT:C16853

Results: Absent flagella (>90% of sperm), short flagella, oligozoospermia, and 0% progressive motility.

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"Moreover, no spermatozoa with normal morphology could be observed in any of the two DZIP1-mutated men (table 2) under light microscopy."

Light microscopy of spermatozoa establishes the severe MMAF morphology with complete absence of normal spermatozoa and predominantly absent flagella.

Transmission electron microscopy of spermatozoa (Post-test confirmation)

Ultrastructural examination of spermatozoa by transmission electron microscopy shows absent or severely truncated axonemes at the connecting piece.

Transmission Electron Microscopy NCIT:C18216

Results: Longitudinal sections show absent or very short axonemes, with virtually no observable axonemal cross-sections.

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"Compared with the normal connecting piece and axoneme in the spermatozoon of a control subject, the longitudinal sections of the spermatozoa from the DZIP1-mutated men presented with absent or very short axoneme."

Transmission electron microscopy demonstrates absent or very short axonemes in DZIP1-deficient spermatozoa.

Whole-exome sequencing for biallelic DZIP1 variants (Post-test confirmation)

In both reported probands, whole-exome sequencing with stringent bioinformatic filtering and Sanger confirmation identified homozygous DZIP1 variants (one missense, p.Arg63Gln, and one stop-gain, p.Tyr230*).

Whole Exome Sequencing NCIT:C101295

Results: Identification of homozygous DZIP1 variants (missense or stop-gain) confirmed by Sanger sequencing in the two reported probands.

Show evidence (1 reference)

PMID:32051257 SUPPORT Human clinical

"After WES, stringent bioinformatic filtering analysis and Sanger sequencing, we identified homozygous mutations of DZIP1 in two Han Chinese men affected with asthenoteratospermia (figure 1 and online supplementary table S4)."

Whole-exome sequencing with Sanger confirmation establishes the molecular diagnosis of DZIP1-related spermatogenic failure 47.

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Animal Models

1

Dzip1 knockout mouse

A CRISPR frameshift in exon 2 removes DZIP1 protein from the testis. Homozygous males are infertile, with very few epididymal sperm, no motile sperm, and mostly absent flagella. DZIP1 is normally expressed in germ cells, especially elongated spermatids.

Species

Mouse

Genotype

Dzip1 c.102_132del (p.Ala35Serfs*13), homozygous

Publication

PMID:32051257

Pathograph links

Arrest of Sperm Axoneme Outgrowth recapitulates fidelity: high The knockout reproduces the predominantly flagellum-less sperm seen in patients.

Show evidence (1 reference)

PMID:32051257 SUPPORT Model organism

"Very few epididymal spermatozoa were observed under light microscope after concentration, presenting severe morphological abnormalities mainly with absent flagella"

Mouse sperm show the same absent-flagellum phenotype.

{ }

Source YAML

click to show

name: Spermatogenic Failure 47
creation_date: '2026-10-21T00:00:00Z'
category: Mendelian
synonyms:
- SPGF47
- spermatogenic failure 47
- DZIP1-related asthenoteratozoospermia
- DZIP1-related multiple morphological abnormalities of the sperm flagella
description: 'Spermatogenic failure 47 (SPGF47) is autosomal recessive male infertility caused by biallelic
  DZIP1 variants. DZIP1 (DAZ interacting zinc finger protein 1) is a centrosomal and basal-body protein
  that is needed at the start of cilium assembly. With CBY and FAM92 it forms a complex at the ciliary
  base that docks the basal body to the membrane and begins transition-zone assembly.

  Affected men have asthenoteratozoospermia with a severe form of multiple morphological abnormalities
  of the sperm flagella (MMAF). More than 90% of sperm have no flagellum at all, the rest have short flagella,
  and no sperm are motile. Sperm counts are also reduced. Electron microscopy shows absent or very short
  axonemes, and patient sperm carry abnormal numbers of centrioles. This pattern differs from most MMAF
  genes, where short and coiled flagella with visible but disorganized axonemes predominate. The defect
  is therefore placed at the basal body, before the axoneme grows. A Dzip1 knockout mouse reproduces the
  phenotype. Only two patients, from two consanguineous Han Chinese families, have been reported.'
disease_term:
  preferred_term: spermatogenic failure 47
  term:
    id: MONDO:0030844
    label: spermatogenic failure 47
parents:
- Spermatogenic Failure
- Genetic Disease
classifications:
  harrisons_chapter:
  - classification_value: ENDOCRINOLOGY_METABOLISM
  - classification_value: GENETICS_ENVIRONMENT_DISEASE
  mechanistic_category:
  - classification_value: ciliopathy
    evidence:
    - reference: PMID:32051257
      reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Consequently, the failure of flagellar formation and the disorder of centrioles in spermatozoa
        of DZIP1-mutated individuals were probably due to the centrosomal damage caused by the absence
        of DZIP1.
      explanation: DZIP1 deficiency impairs basal-body/centriolar ciliogenesis and sperm flagellum assembly,
        placing SPGF47 in the ciliopathy mechanistic category.
notes: MONDO cross-references this disease as OMIM 619102. The gene-disease link rests on a single report
  of two probands (PMID:32051257) with knockout mouse support. A PubMed search for DZIP1 with sperm, infertility,
  flagella, mutation or variant (2026-10-21) found no further human SPGF47 reports. The two probands had
  no clinical signs of other ciliopathies, but the authors note that late-onset ciliary disease cannot
  be excluded. Heterozygous DZIP1 missense variants separately cause autosomal dominant nonsyndromic mitral
  valve prolapse through a primary-cilia defect in valve development (PMID:31118289). That is an allelic
  but distinct disease, covered by the Mitral_Valve_Prolapse entry, and is not a feature of SPGF47.
inheritance:
- name: Autosomal recessive
  description: Both probands were homozygous, one for a missense and one for a stop-gain variant, and
    both came from consanguineous families. The parents of the stop-gain proband were heterozygous carriers.
    Heterozygous knockout mice are fertile.
  inheritance_term:
    preferred_term: Autosomal recessive inheritance
    term:
      id: HP:0000007
      label: Autosomal recessive inheritance
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: In the other consanguineous family A033, a homozygous stop-gain mutation c.690T>G (p.Tyr230*)
      of DZIP1 was identified in proband IV-1 and both parents are heterozygous carriers
    explanation: Homozygosity in a consanguineous proband with heterozygous carrier parents supports recessive
      inheritance.
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: MODEL_ORGANISM
    snippet: Moreover, no obvious difference of above reproductive phenotypes was observed between the
      heterozygous mutated (Dzip1+/‒) male mice and the WT male mice
    explanation: Heterozygous knockout males are normal, consistent with a recessive mechanism.
pathophysiology:
- name: Loss of DZIP1 Protein
  description: 'The missense variant p.Arg63Gln lowers DZIP1 levels and the stop-gain p.Tyr230* removes
    the three coiled-coil domains. DZIP1 is undetectable in patient sperm, where it normally concentrates
    in the head and neck, the region that holds the sperm centrioles. DZIP1 is an adaptor at the mother
    centriole: it binds the appendage protein CEP164 and the IFT component IFT88, and it assembles the
    BBSome-DZIP1-PCM1 complex at centriolar satellites.'
  biological_scale: MOLECULAR
  cell_types:
  - preferred_term: Spermatid
    term:
      id: CL:0000018
      label: spermatid
  - preferred_term: Sperm
    term:
      id: CL:0000019
      label: sperm
  locations:
  - preferred_term: Testis
    term:
      id: UBERON:0000473
      label: testis
  genes:
  - preferred_term: DZIP1
    term:
      id: hgnc:20908
      label: DZIP1
  cellular_components:
  - preferred_term: Centrosome
    term:
      id: GO:0005813
      label: centrosome
  - preferred_term: Centriole
    term:
      id: GO:0005814
      label: centriole
  molecular_functions:
  - preferred_term: Molecular adaptor activity
    modifier: DECREASED
    term:
      id: GO:0060090
      label: molecular adaptor activity
  downstream:
  - target: Defective Basal Body Maturation and Membrane Docking
    causal_link_type: DIRECT
    description: DZIP1 is required at the mother centriole to recruit appendage proteins and IFT machinery
      and to dock the basal body; without it the template for the axoneme is not prepared.
    evidence:
    - reference: PMID:23955340
      reference_title: Centrosomal protein DZIP1 regulates Hedgehog signaling by promoting cytoplasmic
        retention of transcription factor GLI3 and affecting ciliogenesis.
      supports: SUPPORT
      directness: INDIRECT
      evidence_source: IN_VITRO
      snippet: Functionally, both CEP164 and Ninein appendage proteins fail to localize to ciliary appendages
        in Dzip1 mutant cells; IFT components are not recruited to the basal body of cilia.
      explanation: Shown in mouse embryonic fibroblasts for primary cilia, not in sperm, so it supports
        the step by inference from another ciliated cell type.
    - reference: PMID:31821146
      reference_title: Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific
        roles in Drosophila.
      supports: SUPPORT
      directness: INDIRECT
      evidence_source: MODEL_ORGANISM
      snippet: While it is required for TZ assembly in all Drosophila ciliated cells, it also regulates
        basal-body growth and docking to the plasma membrane during spermatogenesis.
      explanation: In Drosophila male germ cells Dzip1 controls basal-body growth and membrane docking,
        the step proposed to fail in SPGF47.
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: IN_VITRO
    snippet: the expression level of DZIP1 was obviously reduced for the p.Arg63Gln mutation, and DZIP1
      was truncated for the p.Tyr230* mutation
    explanation: Transfected HEK293T cells show reduced or truncated DZIP1 for the two patient alleles.
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: In the fertile control, DZIP1 immunostaining (red) was concentrated in sperm head and sperm
      neck. However, DZIP1 immunostaining was absent in the spermatozoa from DZIP1-mutated men.
    explanation: DZIP1 protein is absent from patient sperm.
  - reference: PMID:23955340
    reference_title: Centrosomal protein DZIP1 regulates Hedgehog signaling by promoting cytoplasmic retention
      of transcription factor GLI3 and affecting ciliogenesis.
    supports: SUPPORT
    evidence_source: IN_VITRO
    snippet: We show that DZIP1 colocalizes and interacts with CEP164, a protein localizing at appendages
      of the mother centrioles, and IFT88, a component of the intraflagellar transport (IFT) machinery.
    explanation: Grounds the adaptor activity in binding to a centriole appendage protein and an IFT component.
- name: Defective Basal Body Maturation and Membrane Docking
  description: The sperm flagellum grows from the distal centriole, which must mature into a basal body
    and dock at the membrane. Patient sperm have abnormal centriole numbers and orientation (no centrin
    dot, or more than two), and IFT88 and IFT140 are mislocalized to the head and neck and absent from
    the tail. The authors attribute both the flagellar failure and the centriole disorder to centrosomal
    damage from DZIP1 loss.
  biological_scale: CELLULAR
  cell_types:
  - preferred_term: Spermatid
    term:
      id: CL:0000018
      label: spermatid
  locations:
  - preferred_term: Testis
    term:
      id: UBERON:0000473
      label: testis
  cellular_components:
  - preferred_term: Centriole
    term:
      id: GO:0005814
      label: centriole
  - preferred_term: Ciliary basal body
    term:
      id: GO:0036064
      label: ciliary basal body
  biological_processes:
  - preferred_term: Intraciliary transport
    modifier: DECREASED
    term:
      id: GO:0042073
      label: intraciliary transport
  - preferred_term: Centriole assembly
    modifier: ABNORMAL
    term:
      id: GO:0098534
      label: centriole assembly
  downstream:
  - target: Arrest of Sperm Axoneme Outgrowth
    causal_link_type: DIRECT
    description: Without a mature, docked basal body the axoneme does not grow.
    evidence:
    - reference: PMID:32051257
      reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Consequently, the failure of flagellar formation and the disorder of centrioles in spermatozoa
        of DZIP1-mutated individuals were probably due to the centrosomal damage caused by the absence
        of DZIP1.
      explanation: The authors' interpretation linking the centrosomal defect to failed flagellar formation.
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: More than half of spermatozoa had abnormal numbers of centrioles in subject A033 IV-1 with
      DZIP1 deficiency, which was a significant increase when compared with that in the control.
    explanation: Centrin1 staining shows centriole number defects in patient sperm. Only the stop-gain
      proband was assessed.
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The immunostaining of IFT88 and IFT140 was weak or misplaced in sperm head, and absent in
      sperm tail.
    explanation: IFT proteins are not delivered into the flagellum in patient sperm.
- name: Arrest of Sperm Axoneme Outgrowth
  description: The axoneme is absent or very short, so most sperm have no flagellum. Cross-sections of
    the axoneme could hardly be obtained, unlike other MMAF genes where the axoneme forms but is disorganized.
  biological_scale: CELLULAR
  cell_types:
  - preferred_term: Sperm
    term:
      id: CL:0000019
      label: sperm
  locations:
  - preferred_term: Testis
    term:
      id: UBERON:0000473
      label: testis
  cellular_components:
  - preferred_term: Sperm flagellum
    term:
      id: GO:0036126
      label: sperm flagellum
  biological_processes:
  - preferred_term: Sperm flagellum assembly
    modifier: DECREASED
    term:
      id: GO:0120316
      label: sperm flagellum assembly
  downstream:
  - target: Absent sperm flagella
    causal_link_type: DIRECT
  - target: Short sperm flagella
    causal_link_type: DIRECT
  - target: Immotile sperm
    causal_link_type: DIRECT
    description: Sperm without a flagellum cannot move.
  - target: Male infertility
    causal_link_type: DIRECT
    description: Immotile sperm cannot reach or fertilize the oocyte in vivo.
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Compared with the normal connecting piece and axoneme in the spermatozoon of a control subject,
      the longitudinal sections of the spermatozoa from the DZIP1-mutated men presented with absent or
      very short axoneme.
    explanation: Electron microscopy of patient sperm shows the axoneme fails to form.
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The sperm of DZIP1-mutated men mostly presented with absent or very short axoneme, which
      leaded to the technical challenge in observing cross-sections of the axoneme.
    explanation: Contrasts the DZIP1 lesion with other MMAF genes, where a disorganized axoneme is still
      visible.
phenotypes:
- category: Reproductive
  name: Male infertility
  description: Primary infertility for more than a year was the presenting complaint in both probands.
  phenotype_term:
    preferred_term: Male infertility
    term:
      id: HP:0003251
      label: Male infertility
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Overall, in humans and mice, we found that the DZIP1 deficiency caused by homozygous DZIP1
      mutations resulted in male infertility characterised by asthenoteratospermia with the damage of
      both flagellar formation and sperm centrioles
    explanation: Male infertility in DZIP1-deficient men and mice.
- category: Reproductive
  name: Absent sperm flagella
  diagnostic: true
  description: The dominant finding, seen in more than 90% of sperm in both probands (mean 95.7%, range
    92.4-99.0%).
  phenotype_term:
    preferred_term: Absent sperm flagella
    term:
      id: HP:0032558
      label: Absent sperm flagella
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Notably, the major flagellar malformation in DZIP1-mutated men was absent flagella, accounting
      for more than 90% spermatozoa
    explanation: Absent flagella in most patient sperm.
- category: Reproductive
  name: Short sperm flagella
  diagnostic: true
  description: The remaining sperm (mean 4.3%) have short or very short flagella; no sperm has a normal
    flagellum.
  phenotype_term:
    preferred_term: Short sperm flagella
    term:
      id: HP:0032559
      label: Short sperm flagella
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Compared with the spermatozoa from a control sample, various morphological abnormalities
      of spermatozoa from DZIP1-mutated men were observed, such as short and absent flagella
    explanation: Short flagella in patient sperm.
- category: Reproductive
  name: Immotile sperm
  diagnostic: true
  description: 'Sperm are essentially immotile: total motility 0-2.1% and progressive motility 0% across
    two semen analyses in each proband.'
  phenotype_term:
    preferred_term: Immotile sperm
    term:
      id: HP:0012208
      label: Immotile sperm
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The spermatozoa of both probands consistently presented as immotile
    explanation: Immotile sperm in both probands.
- category: Reproductive
  name: Oligozoospermia
  description: Sperm concentration was 0.7-5.3 x10^6/mL against a WHO reference of >15 x10^6/mL, and total
    count was below 21 million per ejaculate. The authors note that low counts distinguish DZIP1 patients
    from most other MMAF genotypes in their cohort.
  notes: Left without an upstream pathophysiology edge on purpose. The source paper reports the low count
    but does not explain it, so linking it to the flagellar or centriole defect would be a guess.
  phenotype_term:
    preferred_term: Oligozoospermia
    term:
      id: HP:0000798
      label: Oligozoospermia
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Semen analysis showed that the sperm concentration was decreased compared with the standard
      value of WHO
    explanation: Reduced sperm concentration in both probands.
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The total sperm counts of the two DZIP1-mutated patients were obviously decreased (less than
      21 million/ejaculate), while those of the patients with other mutations were reduced in only a portion
      of cases, or even totally normal.
    explanation: Low total count is consistent in DZIP1 patients and unusual among MMAF genotypes.
genetic:
- name: DZIP1
  association: Causal
  relationship_type: CAUSATIVE
  variant_origin: GERMLINE
  gene_term:
    preferred_term: DZIP1
    term:
      id: hgnc:20908
      label: DZIP1
  notes: 'Two homozygous alleles are reported: c.188G>A (p.Arg63Gln), a missense change at a conserved
    residue near the N-terminus, and c.690T>G (p.Tyr230*), a stop-gain at the start of the first coiled-coil
    domain. Both were absent from 1000 Genomes, ExAC, gnomAD and 968 ethnically matched controls. They
    were found in 2 of 65 unrelated Han Chinese men with MMAF (3.1%). No ClinGen gene-disease validity
    classification exists for this pair.'
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The first proband had a homozygous missense mutation c.188G>A (p.Arg63Gln) of DZIP1 and the
      second proband had a homozygous stop-gain mutation c.690T>G (p.Tyr230*).
    explanation: Primary gene-disease report with both causal alleles.
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: we identified homozygous DZIP1 mutations in 2 (3.1%) out of 65 unrelated Han Chinese men
      affected with asthenoteratospermia
    explanation: Frequency of DZIP1 cases in the discovery MMAF cohort.
diagnosis:
- name: Light microscopic semen and sperm morphology analysis
  presence: Post-test confirmation
  description: Semen analysis with modified Papanicolaou-stained sperm morphology assessment under light
    microscopy demonstrates oligoasthenoteratozoospermia with absent flagella in >90% of spermatozoa,
    short flagella in the remainder, and complete absence of progressive motility.
  results: Absent flagella (>90% of sperm), short flagella, oligozoospermia, and 0% progressive motility.
  diagnosis_term:
    preferred_term: Microscopy
    term:
      id: NCIT:C16853
      label: Microscopy
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Moreover, no spermatozoa with normal morphology could be observed in any of the two DZIP1-mutated
      men (table 2) under light microscopy.
    explanation: Light microscopy of spermatozoa establishes the severe MMAF morphology with complete
      absence of normal spermatozoa and predominantly absent flagella.
- name: Transmission electron microscopy of spermatozoa
  presence: Post-test confirmation
  description: Ultrastructural examination of spermatozoa by transmission electron microscopy shows absent
    or severely truncated axonemes at the connecting piece.
  results: Longitudinal sections show absent or very short axonemes, with virtually no observable axonemal
    cross-sections.
  diagnosis_term:
    preferred_term: Transmission Electron Microscopy
    term:
      id: NCIT:C18216
      label: Transmission Electron Microscopy
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Compared with the normal connecting piece and axoneme in the spermatozoon of a control subject,
      the longitudinal sections of the spermatozoa from the DZIP1-mutated men presented with absent or
      very short axoneme.
    explanation: Transmission electron microscopy demonstrates absent or very short axonemes in DZIP1-deficient
      spermatozoa.
- name: Whole-exome sequencing for biallelic DZIP1 variants
  presence: Post-test confirmation
  description: In both reported probands, whole-exome sequencing with stringent bioinformatic filtering
    and Sanger confirmation identified homozygous DZIP1 variants (one missense, p.Arg63Gln, and one stop-gain,
    p.Tyr230*).
  results: Identification of homozygous DZIP1 variants (missense or stop-gain) confirmed by Sanger sequencing
    in the two reported probands.
  diagnosis_term:
    preferred_term: Whole Exome Sequencing
    term:
      id: NCIT:C101295
      label: Whole Exome Sequencing
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: After WES, stringent bioinformatic filtering analysis and Sanger sequencing, we identified
      homozygous mutations of DZIP1 in two Han Chinese men affected with asthenoteratospermia (figure
      1 and online supplementary table S4).
    explanation: Whole-exome sequencing with Sanger confirmation establishes the molecular diagnosis of
      DZIP1-related spermatogenic failure 47.
animal_models:
- name: Dzip1 knockout mouse
  species: Mouse
  genotype: Dzip1 c.102_132del (p.Ala35Serfs*13), homozygous
  publication: PMID:32051257
  description: A CRISPR frameshift in exon 2 removes DZIP1 protein from the testis. Homozygous males are
    infertile, with very few epididymal sperm, no motile sperm, and mostly absent flagella. DZIP1 is normally
    expressed in germ cells, especially elongated spermatids.
  modeled_mechanisms:
  - target: Arrest of Sperm Axoneme Outgrowth
    relationship: RECAPITULATES
    fidelity: HIGH
    description: The knockout reproduces the predominantly flagellum-less sperm seen in patients.
    evidence:
    - reference: PMID:32051257
      reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
      supports: SUPPORT
      evidence_source: MODEL_ORGANISM
      snippet: Very few epididymal spermatozoa were observed under light microscope after concentration,
        presenting severe morphological abnormalities mainly with absent flagella
      explanation: Mouse sperm show the same absent-flagellum phenotype.
  - target: Oligozoospermia
    relationship: PARTIALLY_RECAPITULATES
    fidelity: MODERATE
    description: Sperm number falls in both species, but more steeply in the mouse.
    limitations: Only very few sperm can be recovered from knockout epididymides, while patients still
      have about 1-21 million sperm per ejaculate. The mouse spermatogenic defect is more severe than
      in the two reported men. Mouse sperm also show residual cytoplasm and abnormal heads, which were
      not described in patients.
    evidence:
    - reference: PMID:32051257
      reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
      supports: SUPPORT
      evidence_source: MODEL_ORGANISM
      snippet: Few spermatozoa from epididymides of the Dzip1‒/‒ male mice were collected
      explanation: Severe reduction of sperm number in the knockout.
discussions:
- discussion_id: dzip1_centriole_post_fertilization
  kind: KNOWLEDGE_GAP
  attaches_to:
  - pathophysiology#Defective Basal Body Maturation and Membrane Docking
  prompt: Can ICSI give normal embryo development with DZIP1-deficient sperm, given that the sperm centrioles
    are also abnormal?
  rationale: ICSI bypasses the flagellar defect in most MMAF genotypes. In SPGF47 the sperm centrioles
    are also abnormal in number and orientation, and the sperm-derived centrioles organize the zygote's
    first mitotic spindle. The authors raise the possibility that this affects fertilization and cleavage.
    No ICSI outcome has been reported for a DZIP1 patient, so the entry records no treatment.
  evidence:
  - reference: PMID:32051257
    reference_title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Therefore, the abnormality of sperm centrioles caused by deficiency of DZIP1 may have important
      influence on subsequent fertilisation and cleavage.
    explanation: The source paper states the open question.

📚

References & Deep Research

Deep Research

1

Deep research results are used as seeds for research; they do not undergo the same validation as the main records and may contain errors. How we use deep research.

Evaluations and curation notes (1)

Review round 1: immotile-sperm binding, MF grounding, deep research · 2026-10-22T19:47:43Z · View source

Addressed the first automated review. The motility phenotype is now bound to HP:0012208 Immotile sperm instead of the broader HP:0012207, matching the 0-2.1% total and 0% progressive motility in both probands; the node was renamed and its pathograph target updated. Oligozoospermia carries a note that it is left unwired because the source does not explain the low count. To pass the gene-activity grounding gate, the DZIP1-loss node now binds GO:0060090 molecular adaptor activity (the GO annotation DZIP1 carries for assembling the BBSome-DZIP1-PCM1 complex), evidenced by DZIP1 binding CEP164 and IFT88 (PMID:23955340). A claude_code deep-research report was run and committed; it found no further human SPGF47 reports beyond PMID:32051257 and added no new content. Its HPO suggestions were mislabelled and were not used. Re-validated with just validate (23/23 snippets), validate-terms, check-gene-activity-grounding, check-entity-refs, check-causal-targets, check-duplicate-keys and check-enum-values.

Claude Code ▸

Spermatogenic Failure 47 (SPGF47): DZIP1-related asthenoteratozoospermia with MMAF

claude-haiku-5-5, claude-sonnet-5-5 6 citations 2026-10-22T19:42:51.229717

Spermatogenic Failure 47 (SPGF47): DZIP1-related asthenoteratozoospermia with MMAF

Scope of this report. I ran a few targeted searches and read one primary paper in full (Lv et al. 2020). The disease rests on essentially one published study, so most template sections are marked "not available". I cite PMIDs only where I confirmed them. Other claims are cited by URL. Treat the mechanism of DZIP1 in sperm as partly inferred from non-sperm systems.

1. Disease information

SPGF47 is an autosomal recessive form of male infertility caused by biallelic loss-of-function or missense variants in DZIP1 (DAZ interacting zinc finger protein 1, 13q32.1). Affected men have asthenoteratozoospermia with severe multiple morphological abnormalities of the sperm flagella (MMAF). Their sperm are immotile, and most lack flagella.

Identifiers: MONDO:0030844 (as given). OMIM 619102 per MGI's disease page and search results. Gene OMIM 608671. Orphanet, ICD-10 and MeSH were not checked.
Synonyms: SPGF47; DZIP1-related MMAF; DZIP1-related asthenoteratozoospermia.
Data source: The disease-level description comes from one case report of two individuals. Gene-disease evidence is described as limited (Molecular Interaction Atlas curation label, per search results; this is not an explicit OMIM statement).
Unrelated association at the same locus: OMIM lists a questionable autosomal dominant entry, mitral valve prolapse 3 (610840), for DZIP1. It is a separate phenotype and should not be merged with SPGF47.

2. Etiology

Causal factor: Genetic. Homozygous DZIP1 variants were found in two men from consanguineous families (PMID:32051257).
Risk and protective factors: No environmental, lifestyle, modifier or protective factors have been reported. Heterozygous carriers (the parents of one proband) were not reported as affected, and heterozygous knockout mice were fertile like wild type.
Gene-environment interactions: None reported.

3. Phenotypes

Source for all rows below: PMID:32051257 (n = 2, ages 27 and 28).

Phenotype	Finding	Suggested HPO
Male infertility	Both probands	HP:0003251 (Male infertility)
Asthenozoospermia	Total motility 0–2.1%, progressive motility 0% (WHO reference above 32% total and 40% progressive)	HP:0012206 (Asthenozoospermia)
Teratozoospermia, MMAF	Absent flagella in 92.4–99.0% of sperm and short flagella in 1.0–7.6%. No normal flagella. TEM showed absent or very short axonemes.	HP:0012864 (Abnormal sperm flagellum morphology) and HP:0012207 (Teratozoospermia)
Reduced sperm count	Concentration 0.7–5.3 ×10⁶/mL (reference above 15)	HP:0000798 (Oligospermia)
Abnormal sperm centriole	Abnormal centrin1 dot numbers in sperm	No specific HPO term identified

Severity and onset: Severe, with a presumed congenital basis. The ages at which infertility was recognised were not reported.
Frequency: In the MMAF cohort of 65 unrelated Han Chinese men, 2 carried DZIP1 variants (3.1%).
Other findings: Normal 46,XY karyotype, no large Y-chromosome deletions, and no other ciliopathy signs were found in the two men. Semen volume was normal. I did not check whether the paper reports hormone levels or testis volume.
Quality of life: Not reported.

4. Genetic and molecular information

Gene: DZIP1 (hgnc: not verified here; look it up before binding). It has zinc-finger and coiled-coil domains.
Variants (PMID:32051257):
c.188G>A, p.Arg63Gln. This is a homozygous missense variant at a conserved residue, predicted deleterious by SIFT, PolyPhen-2 and MutationTaster.
c.690T>G, p.Tyr230*. This is a homozygous stop-gain, with both parents heterozygous. It lies at the start of the first coiled-coil domain, so all three coiled-coil domains are lost.
Neither variant appears in 1000 Genomes, ExAC or gnomAD, or in Han Chinese controls.
The paper's Methods give the stop-gain as p.Tyr23* while the Results and Figure 1 give p.Tyr230*. Curators should record the discrepancy and use p.Tyr230*.
Origin and function: Germline. The variants are described as loss of function. Per the paper, the variant constructs in HEK293T cells gave reduced or truncated protein.
ClinVar and ClinGen classification: Not checked.
Modifier, epigenetic and chromosomal data: None reported.

5. Environmental information

None reported. There are no known toxin, lifestyle or infectious contributors.

6. Mechanism and pathophysiology

Causal chain (steps 1–4 are demonstrated in patients or knockout mice; step 5 is inferred from other systems):

Biallelic DZIP1 variants (p.Arg63Gln, or truncation at Tyr230) lead to loss of DZIP1 protein. Patient sperm showed absent DZIP1 signal.
DZIP1 loss results in abnormal centrioles in sperm (abnormal centrin1 dot counts, in about half or more of sperm in one proband).
Abnormal centrioles lead to weak, misplaced or absent IFT88 and IFT140 signals. This is correlative in patient sperm.
Failed axoneme assembly results in absent or short flagella (MMAF) and immotile sperm, hence asthenoteratozoospermia and male infertility. Knockout mice reproduce this endpoint with infertile males, few and immotile sperm, and mostly absent flagella.
Inferred: In other systems DZIP1 acts at the basal body and centriolar satellites. It forms a BBSome–DZIP1–PCM1 complex and promotes ciliary Rab8 activation via GDI2 (GSK3β–Dzip1–Rab8 study). A Drosophila study reports a role for Dzip1 in basal body docking during spermatogenesis (per search summary). The Lv et al. discussion cites these ideas. This work did not test whether those same steps are the mechanism in human sperm.
Suggested GO terms (verify before use): cilium assembly (GO:0060271), sperm flagellum assembly or axoneme assembly, and centriolar satellite as a cellular component.
Cell types: spermatid (CL:0000018) and spermatozoon (CL:0000019). DZIP1 is expressed mainly in testis, especially elongating spermatids in mouse.
Omics, immune and metabolic changes: None reported.

7. Anatomical structures affected

Organs: testis and epididymis, with a reproductive-system phenotype only in the reported patients.
Cells and subcellular: elongating spermatids; the sperm centriole/basal body and the flagellar axoneme. In human sperm DZIP1 localizes to the head and neck.
Laterality: Not applicable. Findings are in semen.
Suggested UBERON: testis (UBERON:0000473) and epididymis (UBERON:0001301).

8. Temporal development

Presumed congenital. Infertility becomes apparent in adulthood on semen analysis. No data exist on progression, remission or critical periods.

9. Inheritance and population

Inheritance: Autosomal recessive (HP:0000007). Both families were consanguineous.
Population: Both families were Han Chinese. Founder effects, carrier frequency, prevalence and geographic variant distribution are unknown.
Sex: Affected phenotype is male. Whether female carriers have any phenotype was not reported.
Penetrance and expressivity: Not established, since only two individuals are reported.

10. Diagnostics

Semen analysis: Low motility with a high proportion of absent or short flagella.
Electron microscopy: Absent or very short axonemes.
Immunofluorescence: Absent DZIP1 and weak or misplaced IFT88 and IFT140 in sperm. This is a research method.
Genetic testing: Exome sequencing found both variants. A reasonable approach is to include DZIP1 on MMAF or male infertility gene panels. The paper does not give formal testing recommendations.
Differential diagnosis: Other MMAF genes. The paper names DNAH1, CEP135, CATSPER2 and SUN5 as related asthenoteratospermia genes (search summary), and known genes explain only about half of cases. Primary ciliary dyskinesia should also be considered, although the two probands had no other ciliopathy features.

11. Outcome and prognosis

No survival, life-expectancy or quality-of-life data. The phenotype appears limited to infertility, with no systemic complications reported in the two men.

12. Treatment

ICSI or other assisted reproduction outcomes: Not reported in the paper. The authors say the probands will be followed up.
Other therapies: No gene therapy, drug or clinical trial was identified (no search of ClinicalTrials.gov was run).
Reasoning only: Because nearly all sperm lack flagella and are immotile, outcomes of assisted reproduction cannot be predicted from the available data.

13. Prevention

Genetic counselling for consanguineous couples. Recurrence risk is 25% per pregnancy when both parents are carriers, which follows from autosomal recessive inheritance. No screening programs or environmental measures apply.

14. Other species and natural disease

No naturally occurring disease in other species was identified (OMIA was not searched).

15. Model organisms

Mouse knockout (PMID:32051257): CRISPR-Cas9 frameshift allele c.102_132del (p.Ala35Serfs*13), with DZIP1 protein absent.
All homozygous males were infertile.
Very few epididymal sperm were recovered, none motile.
Most sperm were severely malformed, mainly with absent flagella, plus cytoplasmic residue and abnormal heads.
Heterozygous males did not differ from wild type.
The mouse study did not directly assess centrioles or IFT.
The mouse phenotype closely matches the human MMAF phenotype.
Other systems: Zebrafish (iguana) and mouse embryonic fibroblasts support a role in ciliogenesis (GSK3β–Dzip1–Rab8; also an unreviewed Hedgehog-signalling paper at pure.psu.edu). A Drosophila study reports a role in basal body docking in spermatogenesis. I did not verify these models independently.
Limitations: Mouse centriole and IFT phenotypes were not tested, and the human data come from two individuals.

Gaps and cautions for curators

Single report. All patient-level evidence comes from PMID:32051257. I did not find a second family or case series.
Unverified identifiers. I did not verify HGNC, GO, CL, UBERON or HPO CURIEs. Look each one up before binding.
Quotes. I read the paper through a summarising tool and did not extract exact abstract quotes. Fetch the cached reference with just fetch-reference PMID:32051257 and copy snippets from it.
Unread part of the paper. The last ~2,500 characters of the PMC page were not read.

Sources

Reference Validation

Checked with linkml-reference-validator 0.3.0.

Outcome	Count
References checked	3
Resolved	3
Unresolved (possible confabulation)	0
Unverifiable	0
References weighed for topical relevance	3
On topic	2
Off topic	0

All extracted references resolved successfully.

Term Validation

Checked with linkml-term-validator 0.4.5, through the ols: adapter.

Outcome	Count
Terms checked	14
Resolved	13
Unresolved (possible confabulation)	0
Obsolete	0
Unverifiable	1
Terms whose name was checked	6
Terms named correctly	2
Terms named as a different term	2
Terms whose name is worth a second look	2

Terms the report names something else

These identifiers resolve, so nothing about them looks wrong, and the ontology calls them something unrelated to what the report calls them. That usually means the identifier is not the one the sentence needs:

HP:0012206 (1 mention) - the report calls it "Asthenozoospermia"; HP calls it Abnormal sperm motility
UBERON:0000473 (1 mention) - the report calls it "Suggested UBERON: testis"; UBERON calls it testis**

Terms whose name is worth a second look

The report's name for these is recognisably related to the term's own name without being one of them. A loose paraphrase reads the same way as a citation of the wrong sibling term - and so does a related synonym, which the ontology records precisely because it names something adjacent rather than the same thing - so these are listed rather than judged:

HP:0000798 (1 mention) - the report calls it "Oligospermia"; HP calls it Oligozoospermia, and lists "Oligospermia" among its other names
CL:0000018 (1 mention) - the report calls it "Cell types: spermatid"; CL calls it spermatid**

Prefixes with no resolver

Terms carrying these prefixes were not checked either way, because no configured ontology covers them. An unrecognised prefix may name an ontology this run could not reach as easily as one that does not exist, so nothing here is evidence of fabrication: OMIM.

Spermatogenic Failure 47

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Spermatogenic Failure 47 (SPGF47): DZIP1-related asthenoteratozoospermia with MMAF

1. Disease information

2. Etiology

3. Phenotypes

4. Genetic and molecular information

5. Environmental information

6. Mechanism and pathophysiology

7. Anatomical structures affected

8. Temporal development

9. Inheritance and population

10. Diagnostics

11. Outcome and prognosis

12. Treatment

13. Prevention

14. Other species and natural disease

15. Model organisms

Gaps and cautions for curators

Sources

Reference Validation

Term Validation

Terms the report names something else

Terms whose name is worth a second look

Prefixes with no resolver