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Reduced lactate dehydrogenase B level(LDHBD)

MedGen UID:
481534
Concept ID:
C3279904
Disease or Syndrome
Synonyms: Lactate Dehydrogenase B Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 150100; 614128
HPO: HP:0045041
Orphanet: ORPHA284435

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced lactate dehydrogenase B level
Follow this link to review classifications for Reduced lactate dehydrogenase B level in Orphanet.

Recent clinical studies

Etiology

Brodie DA, Liu X, Jackson M
Med Sci Sports Exerc 2003 May;35(5):741-6. doi: 10.1249/01.MSS.0000064968.83112.BF. PMID: 12750582

Diagnosis

Revill K, Wang T, Lachenmayer A, Kojima K, Harrington A, Li J, Hoshida Y, Llovet JM, Powers S
Gastroenterology 2013 Dec;145(6):1424-35.e1-25. Epub 2013 Sep 5 doi: 10.1053/j.gastro.2013.08.055. PMID: 24012984Free PMC Article
Brodie DA, Liu X, Jackson M
Med Sci Sports Exerc 2003 May;35(5):741-6. doi: 10.1249/01.MSS.0000064968.83112.BF. PMID: 12750582

Prognosis

Revill K, Wang T, Lachenmayer A, Kojima K, Harrington A, Li J, Hoshida Y, Llovet JM, Powers S
Gastroenterology 2013 Dec;145(6):1424-35.e1-25. Epub 2013 Sep 5 doi: 10.1053/j.gastro.2013.08.055. PMID: 24012984Free PMC Article
Brodie DA, Liu X, Jackson M
Med Sci Sports Exerc 2003 May;35(5):741-6. doi: 10.1249/01.MSS.0000064968.83112.BF. PMID: 12750582

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