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Cystinuria type A

MedGen UID:
347441
•Concept ID:
C1857388
•
Disease or Syndrome
Synonym: Cystinuria, Type A
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019745
OMIM®: 220100
Orphanet: ORPHA93612

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCystinuria type A

Professional guidelines

PubMed

An update and practical guide to renal stone management.
Johri N, Cooper B, Robertson W, Choong S, Rickards D, Unwin R
Nephron Clin Pract 2010;116(3):c159-71. Epub 2010 Jul 2 doi: 10.1159/000317196. PMID: 20606476
Pathophysiology and treatment of cystinuria.
Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M
Nat Rev Nephrol 2010 Jul;6(7):424-34. Epub 2010 Jun 1 doi: 10.1038/nrneph.2010.69. PMID: 20517292
Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I-II.
Morin CL, Thompson MW, Jackson SH, Sass-Kortsak A
J Clin Invest 1971 Sep;50(9):1961-76. doi: 10.1172/JCI106688. PMID: 5564399Free PMC Article

Recent clinical studies

Diagnosis

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.
Liu D, Zhao Y, Xue X, Hou X, Xu H, Zhao X, Tian Y, Tang W, Guo J, Xu C
BMC Med Genomics 2023 Dec 19;16(1):333. doi: 10.1186/s12920-023-01767-6. PMID: 38114997Free PMC Article
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.
Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, Cioni G, Mercuri E, Muntoni F, Battini R
Pediatr Neurol 2015 May;52(5):548-51. Epub 2015 Feb 7 doi: 10.1016/j.pediatrneurol.2015.01.018. PMID: 25882082

Clinical prediction guides

Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.
Pineda M, Wagner CA, Bröer A, Stehberger PA, Kaltenbach S, Gelpí JL, Martín Del Río R, Zorzano A, Palacín M, Lang F, Bröer S
Biochem J 2004 Feb 1;377(Pt 3):665-74. doi: 10.1042/BJ20030956. PMID: 14561219Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    • PubMed
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    Reviews

    Related information

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    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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