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Cystinuria type A

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Cystinuria, Type A
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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).
Monarch Initiative: MONDO:0019745
OMIM®: 220100
Orphanet: ORPHA93612

Term Hierarchy

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

Recent clinical studies


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
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

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

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