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Cystinuria type B

MedGen UID:
347442
•Concept ID:
C1857389
•
Disease or Syndrome
Synonym: Cystinuria, Type B
Modes of inheritance:
Semidominant inheritance
MedGen UID:
1693292
•Concept ID:
C5139139
•
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.
Semidominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019746
OMIM®: 220100
Orphanet: ORPHA93613

Term Hierarchy

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

Professional guidelines

PubMed

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
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V
J Med Genet 2005 Jan;42(1):58-68. doi: 10.1136/jmg.2004.022244. PMID: 15635077Free PMC Article
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

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

    Practice guidelines

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    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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