ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL
General Information (adopted from Orphanet):
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Synonyms, Signs:
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ADDISON DISEASE, CONGENITAL
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Number of Symptoms
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7
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OrphanetNr:
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OMIM Id:
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103230
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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 dominant 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:0012605)
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Hypernatriuria |
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6 / 7739
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2
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(OMIM)
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Hypokaliuria |
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1 / 7739
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3
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(OMIM)
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Chronic adrenal insufficiency |
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1 / 7739
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4
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(MedDRA:10011201)
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Cortisol free urine decreased |
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1 / 7739
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5
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(OMIM)
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Decreased plasma total cortisol |
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1 / 7739
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6
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(OMIM)
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Hyperpigmentation |
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24 / 7739
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7
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(OMIM)
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No response of PTC, UFC and 17-OHCS to ACTH stimulation |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |