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Adrenocortical unresponsiveness to ACTH with postreceptor defect

MedGen UID:: 348507
•Concept ID:: C1859971
•: Disease or Syndrome

Synonym:	FAMILIAL GLUCOCORTICOID DEFICIENCY DUE TO DEFECT DISTAL TO ACTH RECEPTOR

Monarch Initiative:	MONDO:0008735
OMIM®:	202355

Clinical features

From HPO

Hyperpigmentation of the skin

MedGen UID:: 57992
•Concept ID:: C0162834
•: Pathologic Function

A darkening of the skin related to an increase in melanin production and deposition.

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Increased circulating ACTH level

MedGen UID:: 867375
•Concept ID:: C4021740
•: Finding

An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.

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Abnormality of the endocrine system
- Increased circulating ACTH level
Abnormality of the integument
- Hyperpigmentation of the skin

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Coriell Institute for Medical Research

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