ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT
General Information (adopted from Orphanet):
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Synonyms, Signs:
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FAMILIAL GLUCOCORTICOID DEFICIENCY DUE TO DEFECT DISTAL TO ACTH RECEPTOR
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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202355
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0003154)
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Increased circulating ACTH level |
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8 / 7739
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2
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(HPO:0000953)
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Hyperpigmentation of the skin |
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75 / 7739
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3
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(OMIM)
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Postreceptor ACTH defect |
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1 / 7739
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4
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(OMIM)
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Normal response to furosemide and low sodium diet with increased plasma aldosterone |
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1 / 7739
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5
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(OMIM)
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Decreased plasma cortisol and dehydroepiandrosterone |
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1 / 7739
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6
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(OMIM)
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Normal ACTH receptors in peripheral blood mononuclear leukocytes |
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1 / 7739
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7
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(OMIM)
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No steroidogenic response to exogenous ACTH |
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1 / 7739
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8
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(OMIM)
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Hyperpigmentation |
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24 / 7739
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9
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |