Hypoadrenocorticism, Familial

Hypoadrenocorticism, Familial(来自ICD-11)
别称:
Addison Disease
Primary Adrenocortical Insufficiency
Autoimmune Addison Disease
Classic Addison Disease
Primary Addison Disease
Autoimmune Adrenalitis
Addison's Disease
Adrenal Hypoplasia
Addison Disease, Chronic Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency
Addison's Disease Due to Autoimmunity
Addison Disease, Susceptibility to
Autoimmune Addison's Disease
Adrenal Gland Hypofunction
Primary Hypoadrenalism
Addisons Disease
Adrenal Aplasia
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Hypoadrenocorticism, Familial, also known as addison disease, is related to autoimmune polyendocrine syndrome type 1 and intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. An important gene associated with Hypoadrenocorticism, Familial is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and adrenal cortex, and related phenotypes are primary adrenal insufficiency and decreased circulating cortisol level
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参考文献
MALACARDS
AR
All ages
1-5/10000
27
252
30

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