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Arene Oxide Detoxification Defect

MedGen UID:
338706
Concept ID:
C1851507
Disease or Syndrome
Synonyms: ARENE OXIDE DETOXIFICATION DEFECT
Modes of inheritance:
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 dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 617955

Clinical features

Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Recent clinical studies

Etiology

Bavdekar SB, Muranjan MN, Gogtay NJ, Kantharia V, Kshirsagar NA
Ann Pharmacother 2004 Oct;38(10):1648-50. Epub 2004 Aug 10 doi: 10.1345/aph.1E042. PMID: 15304627
Strickler SM, Dansky LV, Miller MA, Seni MH, Andermann E, Spielberg SP
Lancet 1985 Oct 5;2(8458):746-9. PMID: 2864485
Spielberg SP
Fed Proc 1984 May 15;43(8):2308-13. PMID: 6714438

Diagnosis

Bavdekar SB, Muranjan MN, Gogtay NJ, Kantharia V, Kshirsagar NA
Ann Pharmacother 2004 Oct;38(10):1648-50. Epub 2004 Aug 10 doi: 10.1345/aph.1E042. PMID: 15304627
Spielberg SP
Fed Proc 1984 May 15;43(8):2308-13. PMID: 6714438

Therapy

Bavdekar SB, Muranjan MN, Gogtay NJ, Kantharia V, Kshirsagar NA
Ann Pharmacother 2004 Oct;38(10):1648-50. Epub 2004 Aug 10 doi: 10.1345/aph.1E042. PMID: 15304627
Strickler SM, Dansky LV, Miller MA, Seni MH, Andermann E, Spielberg SP
Lancet 1985 Oct 5;2(8458):746-9. PMID: 2864485
Gerson WT, Fine DG, Spielberg SP, Sensenbrenner LL
Blood 1983 May;61(5):889-93. PMID: 6831050
Spielberg SP, Gordon GB, Blake DA, Goldstein DA, Herlong HF
N Engl J Med 1981 Sep 24;305(13):722-7. doi: 10.1056/NEJM198109243051302. PMID: 6790991

Prognosis

Spielberg SP
Fed Proc 1984 May 15;43(8):2308-13. PMID: 6714438

Clinical prediction guides

Spielberg SP
Fed Proc 1984 May 15;43(8):2308-13. PMID: 6714438

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