VARIANT: 1583v1
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Entry
1583v1 Variant
Name
CYP11A1 deficiency
Type
Loss of function
Gene
CYP11A1
cytochrome P450 family 11 subfamily A member 1 [KO:
K00498
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
118485
Network
nt06019
Steroid hormone biosynthesis
Disease
H02314
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Reference
PMID:
16705068
Authors
al Kandari H, Katsumata N, Alexander S, Rasoul MA
Title
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.
Journal
J Clin Endocrinol Metab 91:2821-6 (2006)
DOI:
10.1210/jc.2005-2230
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