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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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
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
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
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
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
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
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
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
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
supports: PARTIAL
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. No exact MONDO disease term was found
in the local MONDO adapter, so the entry is named by causal gene and phenotype.