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Cystinuria type B

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Cystinuria, Type B
Modes of inheritance:
Semidominant inheritance
MedGen UID:
Concept ID:
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.
Monarch Initiative: MONDO:0019746
OMIM®: 220100
Orphanet: ORPHA93613

Term Hierarchy

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

Recent clinical studies


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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