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Summary
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
P450scc DEFICIENCY
613743
OMIM = Online Medalian Inheritance of Men
168558
15q24.1
rare
autosomal resive
autsomal dominant
mutation in the CYP11A1 gene
symptoms
adrenal hyperplasia
adrenal insufficiency
cryptorchism
genitalia, ambigous
hyperkalemia
laboratory finding
Potassium increasedserum
Sodium decreasedserum
Literature
Rymen D,et al.MAN1B1 deficiency: an unexpected CDG-IIPLoS Genet912e10039892013
Hu H,et al.ST3GAL3 mutations impair the development of higher cognitive functionsAm J Hum Genet893407-4142011
Rafiq MA,et al.Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityAm J Hum Genet891176-1822011