Hypoadrenocorticism, Familial

Alias:

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

Related Drugs

Disease Model

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

Related ID：

MALACARDS：HYP780

OMIM：240200

MESH：D000224