IFT140-related recessive ciliopathy is an autosomal recessive disorder caused by biallelic mutations in IFT140, a core component of the intraflagellar transport complex A (IFT-A) that mediates retrograde protein transport within primary cilia. The phenotype spans a continuum from isolated, early-onset congenital retinal dystrophy (non-syndromic retinitis pigmentosa) to a systemic skeletal "conorenal" ciliopathy that overlaps Mainzer-Saldino syndrome and Jeune asphyxiating thoracic dystrophy, with the cardinal triad of phalangeal cone-shaped epiphyses, progressive chronic kidney disease, and severe retinal dystrophy. Because IFT140 is expressed more highly in kidney and retina than in skeleton, renal failure and retinal degeneration are the most penetrant features, while thoracic constriction is often mild relative to other short-rib skeletal ciliopathies.
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name: IFT140-related Recessive Ciliopathy
creation_date: '2026-06-28T12:00:00Z'
category: Mendelian
description: >
IFT140-related recessive ciliopathy is an autosomal recessive disorder caused by
biallelic mutations in IFT140, a core component of the intraflagellar transport
complex A (IFT-A) that mediates retrograde protein transport within primary cilia.
The phenotype spans a continuum from isolated, early-onset congenital retinal
dystrophy (non-syndromic retinitis pigmentosa) to a systemic skeletal "conorenal"
ciliopathy that overlaps Mainzer-Saldino syndrome and Jeune asphyxiating thoracic
dystrophy, with the cardinal triad of phalangeal cone-shaped epiphyses, progressive
chronic kidney disease, and severe retinal dystrophy. Because IFT140 is expressed
more highly in kidney and retina than in skeleton, renal failure and retinal
degeneration are the most penetrant features, while thoracic constriction is often
mild relative to other short-rib skeletal ciliopathies.
disease_term:
preferred_term: IFT140-related recessive ciliopathy
term:
id: MONDO:0100509
label: IFT140-related recessive ciliopathy
parents:
- Ciliopathy
has_subtypes:
- name: Non-syndromic RP80
display_name: Non-syndromic (isolated) retinal dystrophy — retinitis pigmentosa 80
subtype_term:
preferred_term: retinitis pigmentosa 80
term:
id: MONDO:0054708
label: retinitis pigmentosa 80
description: >-
The milder pole of the IFT140 allelic continuum: an isolated, early-onset
congenital retinal dystrophy (retinitis pigmentosa 80) without the systemic
skeletal or renal features of the conorenal spectrum. A subset of biallelic
IFT140 patients — including affected adults — have no evident extraocular
disease and remain non-syndromic.
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
two older affected siblings in their twenties who remained non-syndromic and
were excelling academically
explanation: >-
Documents biallelic IFT140 patients with isolated retinal disease and no
extraocular involvement, defining the non-syndromic (RP80) pole.
- name: Syndromic Conorenal
display_name: Syndromic conorenal ciliopathy (Mainzer-Saldino / Jeune-overlap)
description: >-
The systemic pole of the spectrum: a skeletal "conorenal" ciliopathy
overlapping Mainzer-Saldino syndrome and Jeune asphyxiating thoracic
dystrophy, with the cardinal triad of phalangeal cone-shaped epiphyses,
progressive chronic kidney disease, and severe retinal dystrophy. No
non-obsolete MONDO leaf term currently anchors this conorenal subtype;
the disease-level term MONDO:0100509 remains the best available anchor.
evidence:
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal
cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal
dystrophy.
explanation: >-
Defines the syndromic conorenal triad (skeletal cone-shaped epiphyses, renal
failure, retinal dystrophy) that distinguishes this pole from isolated RP80.
pathophysiology:
- name: IFT-A Retrograde Intraflagellar Transport Failure
conforms_to: "ciliopathy_dysfunction#Basal Body and Transition Zone Dysfunction"
description: >
Biallelic IFT140 mutations disrupt the intraflagellar transport complex A
(IFT-A), which drives retrograde (tip-to-base) protein transport along the
ciliary axoneme. Loss of IFT140 function alters the ciliary abundance and
localization of the transport machinery, impairing primary cilium assembly,
maintenance, and signaling competence in ciliated cells. This molecular lesion
is the shared upstream event from which the organ-specific renal, retinal, and
skeletal phenotypes diverge.
genes:
- preferred_term: IFT140
term:
id: hgnc:29077
label: IFT140
biological_processes:
- preferred_term: Retrograde Intraflagellar Transport
term:
id: GO:0035721
label: intraciliary retrograde transport
- preferred_term: Intraflagellar Transport
term:
id: GO:0042073
label: intraciliary transport
- preferred_term: Cilium Assembly
term:
id: GO:0060271
label: cilium assembly
cellular_components:
- preferred_term: Primary Cilium
term:
id: GO:0005929
label: cilium
evidence:
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 is one of the six currently known components of the intraflagellar
transport complex A (IFT-A) that regulates retrograde protein transport in
ciliated cells.
explanation: >-
Establishes IFT140 as an IFT-A subunit governing retrograde ciliary
transport, the molecular basis of this ciliopathy.
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: IN_VITRO
snippet: >-
Ciliary abundance and localization of anterograde IFTs were altered in
fibroblasts of affected individuals, a result that supports the pivotal role
of IFT140 in proper development and function of ciliated cells.
explanation: >-
Patient fibroblasts show disrupted ciliary transport machinery, demonstrating
the functional consequence of IFT140 loss on the primary cilium.
downstream:
- target: Photoreceptor Connecting Cilium Degeneration
- target: Renal Tubular Cystic and Fibrotic Disease
- target: Skeletal Dysplasia with Thoracic Constriction
- name: Photoreceptor Connecting Cilium Degeneration
conforms_to: "ciliopathy_dysfunction#Photoreceptor Connecting Cilium Degeneration"
description: >
The photoreceptor connecting cilium is a specialized primary cilium that
transports phototransduction proteins to the outer segment. IFT-A retrograde
transport failure compromises this conduit, producing an early-onset, severe
congenital retinal dystrophy that can occur in isolation (non-syndromic
retinitis pigmentosa, RP80) or as part of the systemic conorenal phenotype.
cell_types:
- preferred_term: Photoreceptor Cell
term:
id: CL:0000210
label: photoreceptor cell
cellular_components:
- preferred_term: Photoreceptor Connecting Cilium
term:
id: GO:0005929
label: cilium
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Recessive IFT140 mutations cause a severe congenital retinal dystrophy with
high hyperopia and often early photophilia.
explanation: >-
Documents the retinal-degeneration arm of the IFT140 ciliopathy spectrum
arising from photoreceptor ciliary dysfunction.
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal
cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal
dystrophy.
explanation: >-
Severe early-onset retinal dystrophy is a cardinal feature of the syndromic
IFT140 phenotype.
downstream:
- target: Retinal Dystrophy
- target: Nystagmus
- name: Renal Tubular Cystic and Fibrotic Disease
conforms_to: "ciliopathy_dysfunction#Renal Tubular Cystic and Fibrotic Disease"
description: >
Primary cilia on renal tubular epithelial cells sense luminal flow and maintain
tubular architecture. IFT140 deficiency disrupts this ciliary signaling, driving
a nephronophthisis-like tubulointerstitial process with cystic and fibrotic
change that progresses to end-stage renal disease, typically within the first
decade of life. The severity mirrors the cystic kidney phenotype of Ift140
conditional knockout mice and the high renal expression of IFT140.
cell_types:
- preferred_term: Renal Tubular Epithelial Cell
term:
id: CL:1000507
label: kidney tubule cell
cellular_components:
- preferred_term: Primary Cilium
term:
id: GO:0005929
label: cilium
evidence:
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 patients presented with mild chest narrowing, but all had end-stage
renal failure under 13 years of age and retinal dystrophy when examined for
ocular dysfunction.
explanation: >-
Establishes early progressive renal failure as a near-universal, highly
penetrant feature of IFT140-related ciliopathy.
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: MODEL_ORGANISM
snippet: >-
This is consistent with the severe cystic phenotype of Ift140 conditional
knockout mice
explanation: >-
A conditional Ift140 mouse knockout recapitulates the cystic renal phenotype,
supporting the causal ciliary mechanism in the kidney.
downstream:
- target: Stage 5 Chronic Kidney Disease
- name: Skeletal Dysplasia with Thoracic Constriction
conforms_to: "ciliopathy_dysfunction#Skeletal Dysplasia with Polydactyly and Thoracic Constriction"
description: >
Primary cilia transduce Hedgehog signaling required for endochondral
ossification and growth-plate chondrocyte proliferation. IFT-A dysfunction
perturbs ciliary Hedgehog signaling in chondrocytes, producing the skeletal
features of the conorenal/Mainzer-Saldino spectrum, including phalangeal
cone-shaped epiphyses and a constricted thorax. Thoracic narrowing is usually
milder in IFT140 disease than in other short-rib skeletal ciliopathies.
cell_types:
- preferred_term: Chondrocyte
term:
id: CL:0000138
label: chondrocyte
biological_processes:
- preferred_term: Hedgehog Signaling
term:
id: GO:0007224
label: smoothened signaling pathway
evidence:
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal
cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal
dystrophy.
explanation: >-
Phalangeal cone-shaped epiphyses are the cardinal skeletal manifestation of
the syndromic IFT140 phenotype.
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 patients presented with mild chest narrowing, but all had end-stage
renal failure under 13 years of age and retinal dystrophy when examined for
ocular dysfunction.
explanation: >-
Documents the comparatively mild thoracic constriction characteristic of
IFT140-related skeletal ciliopathy.
downstream:
- target: Cone-shaped Epiphysis
- target: Thoracic Hypoplasia
phenotypes:
- name: Retinal Dystrophy
description: >
Severe, early-onset congenital retinal dystrophy with non-recordable
electroretinography; may be isolated (non-syndromic) or syndromic.
phenotype_term:
preferred_term: Retinal dystrophy
term:
id: HP:0000556
label: Retinal dystrophy
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Recessive IFT140 mutations cause a severe congenital retinal dystrophy with
high hyperopia and often early photophilia.
explanation: Severe congenital retinal dystrophy is a core feature of the IFT140 phenotype.
- name: Nystagmus
description: >
Nystagmus present from birth, reflecting the early, severe visual impairment.
phenotype_term:
preferred_term: Nystagmus
term:
id: HP:0000639
label: Nystagmus
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
All had poor vision and nystagmus since birth, with visual acuity after 5
years old of hand motions or light perception.
explanation: Documents congenital nystagmus with profound visual loss in IFT140 patients.
- name: Stage 5 Chronic Kidney Disease
subtype: Syndromic Conorenal
description: >
Progressive tubulointerstitial kidney disease reaching end-stage renal failure,
typically within the first decade of life.
phenotype_term:
preferred_term: Stage 5 chronic kidney disease
term:
id: HP:0003774
label: Stage 5 chronic kidney disease
evidence:
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 patients presented with mild chest narrowing, but all had end-stage
renal failure under 13 years of age and retinal dystrophy when examined for
ocular dysfunction.
explanation: Establishes early end-stage renal failure as a near-universal feature.
- name: Cone-shaped Epiphysis
subtype: Syndromic Conorenal
description: >
Phalangeal cone-shaped epiphyses, the characteristic skeletal radiographic
finding of the Mainzer-Saldino/conorenal phenotype.
phenotype_term:
preferred_term: Cone-shaped epiphysis
term:
id: HP:0010579
label: Cone-shaped epiphysis
evidence:
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal
cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal
dystrophy.
explanation: Phalangeal cone-shaped epiphyses are a cardinal feature of syndromic IFT140 disease.
- name: Thoracic Hypoplasia
subtype: Syndromic Conorenal
description: >
Thoracic constriction from short ribs, typically milder than in other short-rib
skeletal ciliopathies.
phenotype_term:
preferred_term: Thoracic hypoplasia
term:
id: HP:0005257
label: Thoracic hypoplasia
evidence:
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 patients presented with mild chest narrowing, but all had end-stage
renal failure under 13 years of age and retinal dystrophy when examined for
ocular dysfunction.
explanation: Documents the comparatively mild thoracic constriction in IFT140 disease.
- name: High Hyperopia
description: >
High hyperopia (severe hypermetropia over +5.00 diopters) is a typical
refractive finding in IFT140-related congenital retinal dystrophy.
phenotype_term:
preferred_term: High hyperopia
term:
id: HP:0008499
label: High hypermetropia
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
high hyperopia was typical, and electroretinography was
non-recordable.
explanation: High hyperopia is a typical refractive finding in IFT140-related retinal dystrophy.
- name: Developmental Delay
description: >
Developmental delay affects a majority of children with syndromic IFT140
disease (8 of 12 in one cohort), though it is common but not universal.
phenotype_term:
preferred_term: Developmental delay
term:
id: HP:0001263
label: Global developmental delay
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Eight children had developmental delay
explanation: Developmental delay was documented in 8 of the children in the IFT140 ophthalmic cohort.
- name: Short Stature
description: >
Short stature is present in nearly all IFT140 patients and is likely
secondary to renal insufficiency, contrasting with DYNC2H1-related disease.
phenotype_term:
preferred_term: Short stature
term:
id: HP:0004322
label: Short stature
evidence:
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
All IFT140 patients but patient JATD2 were of short stature
explanation: Short stature was present in all but one IFT140 patient, likely secondary to renal insufficiency.
inheritance:
- name: Autosomal Recessive
inheritance_term:
preferred_term: Autosomal recessive inheritance
term:
id: HP:0000007
label: Autosomal recessive inheritance
description: >
Autosomal recessive inheritance from biallelic (homozygous or compound
heterozygous) IFT140 mutations.
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Conorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal
and renal findings and caused by biallelic mutations in the gene intraflagellar
transport 140 Chlamydomonas homologue (IFT140).
explanation: Confirms biallelic (autosomal recessive) IFT140 inheritance.
genetic:
- name: IFT140 Biallelic Mutations
association: Causative
relationship_type: CAUSATIVE
variant_origin: GERMLINE
inheritance:
- name: Autosomal Recessive
inheritance_term:
preferred_term: Autosomal recessive inheritance
term:
id: HP:0000007
label: Autosomal recessive inheritance
notes: >
Biallelic IFT140 mutations cause a recessive ciliopathy spectrum spanning
isolated congenital retinal dystrophy through the systemic conorenal
(Mainzer-Saldino / Jeune-overlap) phenotype. IFT140 encodes a subunit of the
retrograde IFT-A transport complex.
gene_term:
preferred_term: IFT140
term:
id: hgnc:29077
label: IFT140
evidence:
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Through a combination of ciliome resequencing and Sanger sequencing, we
identified IFT140 mutations in six MSS families and in a family with the
clinically overlapping Jeune syndrome.
explanation: Identifies IFT140 as the causative gene across the MSS/Jeune-overlap spectrum.
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 is therefore a major cause of cono-renal syndromes (JATD and MSS).
explanation: Establishes IFT140 as a major cause of the conorenal ciliopathy spectrum.
prevalence:
- population: Published literature worldwide
percentage: Rare; precise population prevalence not established
notes: >-
IFT140-related ciliopathy is reported in small consanguineous family and
fetal/clinical series rather than population registries; a recurrent founder
allele (c.1990G>A) is described on the Arabian Peninsula.
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The c.1990G>A mutation represents a founder effect or mutational hotspot on
the Arabian Peninsula.
explanation: Supports rarity and a regional founder effect rather than a common, registry-defined disorder.
diagnosis:
- name: Clinical and Radiographic Conorenal Diagnosis
description: >-
The syndromic conorenal/Mainzer-Saldino pole is recognized clinically and
radiographically by phalangeal cone-shaped epiphyses with chronic renal
failure and early severe retinal dystrophy; Jeune-overlap cases may show
mild chest narrowing with prominent renal and retinal disease.
diagnosis_term:
preferred_term: diagnostic procedure
term:
id: MAXO:0000003
label: diagnostic procedure
evidence:
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by
phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset,
severe retinal dystrophy.
explanation: >-
Defines the core clinical/radiographic triad used to recognize the
conorenal IFT140 phenotype.
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 patients presented with mild chest narrowing, but all had end-stage
renal failure under 13 years of age and retinal dystrophy when examined for
ocular dysfunction.
explanation: >-
Supports the Jeune-overlap diagnostic pattern of mild thoracic narrowing
with early severe renal and retinal involvement.
- name: Molecular Genetic Confirmation and IFT140 Screening
description: >-
Molecular diagnosis is established by identifying biallelic IFT140 mutations.
IFT140 should be prioritized in skeletal ciliopathy-spectrum patients,
especially JATD/MSS presentations with kidney disease with or without retinal
involvement.
diagnosis_term:
preferred_term: molecular genetic testing
term:
id: MAXO:0000533
label: molecular genetic testing
evidence:
- reference: PMID:22503633
reference_title: "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Through a combination of ciliome resequencing and Sanger sequencing, we
identified IFT140 mutations in six MSS families and in a family with the
clinically overlapping Jeune syndrome.
explanation: >-
Supports IFT140 molecular testing as confirmatory across the
Mainzer-Saldino/Jeune-overlap spectrum.
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
The present study strengthens the rationale for IFT140 screening in
skeletal ciliopathy spectrum patients that have kidney disease and/or
retinal dystrophy.
explanation: >-
Directly supports prioritizing IFT140 screening in skeletal ciliopathy
patients with renal and/or retinal involvement.
- name: Ophthalmic Diagnostic Evaluation
description: >-
Ophthalmic evaluation can identify the IFT140 retinal phenotype, including
severe congenital retinal dystrophy with poor vision and nystagmus from
birth, typical high hyperopia, and non-recordable electroretinography.
diagnosis_term:
preferred_term: ophthalmic diagnostic procedure
term:
id: MAXO:0000967
label: ophthalmic diagnostic procedure
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
All had poor vision and nystagmus since birth
explanation: >-
Defines the early severe visual presentation that can prompt ophthalmic
evaluation for IFT140-related retinal dystrophy.
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
high hyperopia was typical, and electroretinography was non-recordable.
explanation: >-
Supports high hyperopia and non-recordable electroretinography as
ophthalmic diagnostic findings in IFT140-related disease.
treatments:
- name: Renal Replacement Therapy
description: >
Progressive kidney disease in IFT140-related ciliopathy reaches end-stage renal
failure in childhood, necessitating dialysis and kidney transplantation as
definitive renal-replacement management.
treatment_term:
preferred_term: organ transplantation
term:
id: MAXO:0010039
label: organ transplantation
evidence:
- reference: PMID:23418020
reference_title: "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
IFT140 patients presented with mild chest narrowing, but all had end-stage
renal failure under 13 years of age and retinal dystrophy when examined for
ocular dysfunction.
explanation: >-
Universal early end-stage renal failure establishes the indication for
renal-replacement therapy (dialysis and transplantation).
- name: Low Vision Supportive Care
description: >
Severe congenital retinal dystrophy with profound visual impairment is managed
with low-vision rehabilitation, optical correction of the typical high hyperopia,
and educational/developmental support.
treatment_term:
preferred_term: supportive care
term:
id: MAXO:0000950
label: supportive care
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
All had poor vision and nystagmus since birth, with visual acuity after 5
years old of hand motions or light perception.
explanation: >-
Profound early visual loss establishes the need for low-vision supportive
management.
- name: Genetic Counseling
description: >
Autosomal recessive inheritance with a 25% recurrence risk warrants genetic
counseling, carrier/cascade testing, and discussion of reproductive options
including prenatal and preimplantation genetic diagnosis.
treatment_term:
preferred_term: genetic counseling
term:
id: MAXO:0000079
label: genetic counseling
evidence:
- reference: PMID:26359340
reference_title: "The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Conorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal
and renal findings and caused by biallelic mutations in the gene intraflagellar
transport 140 Chlamydomonas homologue (IFT140).
explanation: >-
Biallelic (autosomal recessive) inheritance underpins recurrence-risk
counseling and cascade testing.