SLC26A1-Related Oxalate Transporter Deficiency

Metabolic Disorder Pathograph 4 Show in embeddings browser Genetic Kidney Disease Disorder of Glyoxylate and Oxalate Metabolism

SLC26A1-related oxalate transporter deficiency is a rare recessive Mendelian form of calcium oxalate nephrolithiasis caused by biallelic SLC26A1 variants. SLC26A1 encodes sulfate anion transporter 1 (SAT1), a solute carrier family 26 anion transporter that can transport oxalate. Reported biallelic variants reduce transporter activity and are associated with calcium oxalate kidney stones, placing this disorder in the glyoxylate/oxalate pathway through impaired renal and systemic oxalate handling rather than hepatic oxalate overproduction.

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1
Mappings
1
Inheritance
4
Pathophys.
2
Phenotypes
4
Pathograph
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Classifications

ICIMD (Inherited Metabolic Disorders)
glyoxylate and oxalate
🔗

Mappings

MONDO
MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 Not Yet Curated
skos:closeMatch MONDO
MONDO:0020722 carries this entry's package seed record OMIM:167030 and is gene-anchored to SLC26A1 (RO:0004003 HGNC:10993), so it denotes the same gene-phenotype relationship. It is recorded as a close match rather than promoted to the top-level disease_term because MONDO models the class as an inherited disease *susceptibility* (is_a MONDO:0020573; predisposes towards MONDO:0008171 nephrolithiasis), whereas this entry models a recessive Mendelian transporter deficiency. Promotion to disease_term needs a maintainer decision on that framing (tracked in dismech#3691).
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Inheritance

1
Autosomal recessive inheritance HP:0000007
Autosomal recessive inheritance
Show evidence (1 reference)
PMID:27210743 SUPPORT Human Clinical
"Our data identify SLC26A1 mutations as causing a recessive Mendelian form of nephrolithiasis."
Human sequencing and functional data classify the SLC26A1 disease as recessive Mendelian nephrolithiasis.
⚙

Pathophysiology

4
Biallelic SLC26A1 Transporter Dysfunction
Biallelic SLC26A1 variants impair SAT1 folding, trafficking, or anion exchange activity, reducing oxalate/sulfate transporter function.
SLC26A1 hgnc:10993 HUGO Gene Nomenclature Committee (hgnc) Relation: this pathophysiological event involves this gene This pathophysiological event involves SLC26A1 (hgnc:10993). hgnc:10993 is a gene from the HUGO Gene Nomenclature Committee.
oxalate transport GO:0019532 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased oxalate transport (GO:0019532). GO:0019532 is a biological process from the Gene Ontology. ↓ DECREASED monoatomic anion transport GO:0006820 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased monoatomic anion transport (GO:0006820). GO:0006820 is a biological process from the Gene Ontology. ↓ DECREASED
carboxylic acid transmembrane transporter activity GO:0046943 Gene Ontology (GO) Relation: this pathophysiological event involves this molecular function This pathophysiological event involves decreased carboxylic acid transmembrane transporter activity (GO:0046943). GO:0046943 is a molecular function from the Gene Ontology. ↓ DECREASED
Downstream
Impaired Oxalate Handling Reduced SLC26A1 transporter activity disrupts oxalate handling.
Show evidence (2 references)
PMID:27210743 SUPPORT Human Clinical
"We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones."
Supports biallelic SLC26A1 variants in affected humans.
PMID:27210743 SUPPORT In Vitro
"all the identified mutations in SLC26A1 result in decreased transporter activity."
Functional expression data support reduced transporter activity as the proximal defect.
Impaired Oxalate Handling
SLC26A1 loss disrupts oxalate transport/homeostasis. Mouse data link SAT1 loss to hyperoxaluria, while the human Mendelian report links biallelic SLC26A1 variants to calcium oxalate stones and reduced transporter activity.
oxalate transport GO:0019532 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased oxalate transport (GO:0019532). GO:0019532 is a biological process from the Gene Ontology. ↓ DECREASED
Downstream
Urinary Calcium Oxalate Supersaturation Disrupted oxalate handling increases calcium oxalate stone risk.
Show evidence (1 reference)
PMID:24250268 SUPPORT Model Organism
"SLC26A1 encodes the sulfate anion transporter 1 (SAT1) protein, and its loss in mice leads to hyperoxaluria and calcium oxalate renal stones."
Mouse data support the mechanistic link between SAT1 loss, hyperoxaluria, and calcium oxalate stones.
Urinary Calcium Oxalate Supersaturation
Altered oxalate handling produces a lithogenic calcium oxalate urine state, specializing the nephrolithiasis supersaturation module to the SLC26A1 transporter defect.
Renal Excretion of Oxalate GO:0007588 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves dysregulated Renal Excretion of Oxalate, annotated with excretion (GO:0007588). GO:0007588 is a biological process from the Gene Ontology. ↕ DYSREGULATED
Downstream
Calcium Oxalate Nephrolithiasis Calcium oxalate supersaturation leads to kidney stones.
Show evidence (1 reference)
PMID:27210743 SUPPORT Human Clinical
"We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones."
Human evidence supports calcium oxalate stones in the SLC26A1-deficient individuals.
Calcium Oxalate Nephrolithiasis
The reported human phenotype is calcium oxalate nephrolithiasis, including recurrent stones in pilot variant studies and a recessive Mendelian form in the sequencing/functional report.
kidney UBERON:0002113 Uberon multi-species anatomy ontology (UBERON) Relation: this pathophysiological event occurs in this anatomical location This pathophysiological event occurs in kidney (UBERON:0002113). UBERON:0002113 is an anatomical location from the Uberon multi-species anatomy ontology.
Show evidence (1 reference)
PMID:27210743 SUPPORT Human Clinical
"Our data identify SLC26A1 mutations as causing a recessive Mendelian form of nephrolithiasis."
Supports nephrolithiasis as the clinical consequence of SLC26A1 mutations.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for SLC26A1-Related Oxalate Transporter Deficiency Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
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Phenotypes

2
Calcium oxalate nephrolithiasis Clinical HP:0008672 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Calcium oxalate nephrolithiasis (HP:0008672). HP:0008672 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:27210743 SUPPORT Human Clinical
"We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones."
Supports calcium oxalate stones in human SLC26A1 disease.
Nephrocalcinosis Clinical HP:0000121 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Nephrocalcinosis (HP:0000121). HP:0000121 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:24250268 SUPPORT Human Clinical
"one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T."
Supports nephrocalcinosis in a pilot SLC26A1 variant case, but not a fully established frequency.
{ }

Source YAML

click to show 
name: SLC26A1-Related Oxalate Transporter Deficiency
creation_date: "2026-07-06T06:09:44Z"
description: >-
  SLC26A1-related oxalate transporter deficiency is a rare recessive Mendelian
  form of calcium oxalate nephrolithiasis caused by biallelic SLC26A1 variants.
  SLC26A1 encodes sulfate anion transporter 1 (SAT1), a solute carrier family
  26 anion transporter that can transport oxalate. Reported biallelic variants
  reduce transporter activity and are associated with calcium oxalate kidney
  stones, placing this disorder in the glyoxylate/oxalate pathway through
  impaired renal and systemic oxalate handling rather than hepatic oxalate
  overproduction.
category: Metabolic Disorder
mappings:
  mondo_mappings:
  - term:
      id: MONDO:0020722
      label: nephrolithiasis susceptibility caused by SLC26A1
    mapping_predicate: skos:closeMatch
    mapping_source: MONDO
    mapping_justification: >-
      MONDO:0020722 carries this entry's package seed record OMIM:167030 and is
      gene-anchored to SLC26A1 (RO:0004003 HGNC:10993), so it denotes the same
      gene-phenotype relationship. It is recorded as a close match rather than
      promoted to the top-level disease_term because MONDO models the class as
      an inherited disease *susceptibility* (is_a MONDO:0020573; predisposes
      towards MONDO:0008171 nephrolithiasis), whereas this entry models a
      recessive Mendelian transporter deficiency. Promotion to disease_term
      needs a maintainer decision on that framing (tracked in dismech#3691).
parents:
- Genetic Kidney Disease
- Disorder of Glyoxylate and Oxalate Metabolism
synonyms:
- SLC26A1 deficiency
- SAT1 deficiency
- Recessive SLC26A1 nephrolithiasis
classifications:
  icimd_category:
  - classification_value: glyoxylate_and_oxalate
    notes: >-
      ICIMD category 13.1, disorders of glyoxylate and oxalate metabolism.
      SLC26A1 deficiency is grouped here through oxalate transport and calcium
      oxalate stone pathophysiology.
inheritance:
- name: Autosomal recessive inheritance
  inheritance_term:
    preferred_term: Autosomal recessive inheritance
    term:
      id: HP:0000007
      label: Autosomal recessive inheritance
  evidence:
  - reference: PMID:27210743
    reference_title: "Mutations in SLC26A1 Cause Nephrolithiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Our data identify SLC26A1 mutations as causing a recessive Mendelian form of nephrolithiasis."
    explanation: Human sequencing and functional data classify the SLC26A1 disease as recessive Mendelian nephrolithiasis.
pathophysiology:
- name: Biallelic SLC26A1 Transporter Dysfunction
  description: >-
    Biallelic SLC26A1 variants impair SAT1 folding, trafficking, or anion
    exchange activity, reducing oxalate/sulfate transporter function.
  role: trigger
  genes:
  - preferred_term: SLC26A1
    term:
      id: hgnc:10993
      label: SLC26A1
  molecular_functions:
  - preferred_term: carboxylic acid transmembrane transporter activity
    term:
      id: GO:0046943
      label: carboxylic acid transmembrane transporter activity
    modifier: DECREASED
  biological_processes:
  - preferred_term: oxalate transport
    term:
      id: GO:0019532
      label: oxalate transport
    modifier: DECREASED
  - preferred_term: monoatomic anion transport
    term:
      id: GO:0006820
      label: monoatomic anion transport
    modifier: DECREASED
  evidence:
  - reference: PMID:27210743
    reference_title: "Mutations in SLC26A1 Cause Nephrolithiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones."
    explanation: Supports biallelic SLC26A1 variants in affected humans.
  - reference: PMID:27210743
    reference_title: "Mutations in SLC26A1 Cause Nephrolithiasis."
    supports: SUPPORT
    evidence_source: IN_VITRO
    snippet: "all the identified mutations in SLC26A1 result in decreased transporter activity."
    explanation: Functional expression data support reduced transporter activity as the proximal defect.
  downstream:
  - target: Impaired Oxalate Handling
    causal_link_type: DIRECT
    description: Reduced SLC26A1 transporter activity disrupts oxalate handling.
- name: Impaired Oxalate Handling
  description: >-
    SLC26A1 loss disrupts oxalate transport/homeostasis. Mouse data link SAT1
    loss to hyperoxaluria, while the human Mendelian report links biallelic
    SLC26A1 variants to calcium oxalate stones and reduced transporter
    activity.
  role: amplifier
  biological_processes:
  - preferred_term: oxalate transport
    term:
      id: GO:0019532
      label: oxalate transport
    modifier: DECREASED
  chemical_entities:
  - preferred_term: oxalate
    term:
      id: CHEBI:132952
      label: oxalate
    modifier: ABNORMAL
  evidence:
  - reference: PMID:24250268
    reference_title: "Human SLC26A1 gene variants: a pilot study."
    supports: SUPPORT
    evidence_source: MODEL_ORGANISM
    snippet: "SLC26A1 encodes the sulfate anion transporter 1 (SAT1) protein, and its loss in mice leads to hyperoxaluria and calcium oxalate renal stones."
    explanation: Mouse data support the mechanistic link between SAT1 loss, hyperoxaluria, and calcium oxalate stones.
  downstream:
  - target: Urinary Calcium Oxalate Supersaturation
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
    description: Disrupted oxalate handling increases calcium oxalate stone risk.
- name: Urinary Calcium Oxalate Supersaturation
  conforms_to: "nephrolithiasis_crystal_nucleation#Urinary Supersaturation"
  description: >-
    Altered oxalate handling produces a lithogenic calcium oxalate urine state,
    specializing the nephrolithiasis supersaturation module to the SLC26A1
    transporter defect.
  role: central_effector
  biological_processes:
  - preferred_term: Renal Excretion of Oxalate
    term:
      id: GO:0007588
      label: excretion
    modifier: DYSREGULATED
  chemical_entities:
  - preferred_term: calcium oxalate
    term:
      id: CHEBI:60579
      label: calcium oxalate
    modifier: INCREASED
  evidence:
  - reference: PMID:27210743
    reference_title: "Mutations in SLC26A1 Cause Nephrolithiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones."
    explanation: Human evidence supports calcium oxalate stones in the SLC26A1-deficient individuals.
  downstream:
  - target: Calcium Oxalate Nephrolithiasis
    causal_link_type: DIRECT
    description: Calcium oxalate supersaturation leads to kidney stones.
- name: Calcium Oxalate Nephrolithiasis
  conforms_to: "nephrolithiasis_crystal_nucleation#Symptomatic Kidney Stones"
  description: >-
    The reported human phenotype is calcium oxalate nephrolithiasis, including
    recurrent stones in pilot variant studies and a recessive Mendelian form in
    the sequencing/functional report.
  role: consequence
  locations:
  - preferred_term: kidney
    term:
      id: UBERON:0002113
      label: kidney
  evidence:
  - reference: PMID:27210743
    reference_title: "Mutations in SLC26A1 Cause Nephrolithiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Our data identify SLC26A1 mutations as causing a recessive Mendelian form of nephrolithiasis."
    explanation: Supports nephrolithiasis as the clinical consequence of SLC26A1 mutations.
phenotypes:
- category: Clinical
  name: Calcium oxalate nephrolithiasis
  description: Calcium oxalate kidney stones in individuals with biallelic SLC26A1 variants.
  phenotype_term:
    preferred_term: Calcium oxalate nephrolithiasis
    term:
      id: HP:0008672
      label: Calcium oxalate nephrolithiasis
  evidence:
  - reference: PMID:27210743
    reference_title: "Mutations in SLC26A1 Cause Nephrolithiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones."
    explanation: Supports calcium oxalate stones in human SLC26A1 disease.
- category: Clinical
  name: Nephrocalcinosis
  description: Severe nephrocalcinosis was reported in a homozygous/compound variant pilot case.
  phenotype_term:
    preferred_term: Nephrocalcinosis
    term:
      id: HP:0000121
      label: Nephrocalcinosis
  evidence:
  - reference: PMID:24250268
    reference_title: "Human SLC26A1 gene variants: a pilot study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T."
    explanation: Supports nephrocalcinosis in a pilot SLC26A1 variant case, but not a fully established frequency.
notes: >-
  Package seed 13.1.03.02; OMIM:167030. The entry is named by causal gene and
  phenotype. A re-audit against the local MONDO adapter (2026-07-30, dismech#3691)
  did resolve a SLC26A1-specific class, MONDO:0020722, which is now recorded as a
  skos:closeMatch; it is not used as the top-level disease_term because MONDO
  frames it as a nephrolithiasis susceptibility rather than a recessive
  transporter deficiency.