Pigmented nodular adrenocortical disease, primary, 4

Preferred Label : Pigmented nodular adrenocortical disease, primary, 4;

Symbol : PPNAD4;

CISMeF acronym : PPNAD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cushing syndrome, adrenal, due to ppnad4; Chromosome 19p13 duplication syndrome;

Included titles and symbols : Acth-independent adrenal cushing syndrome, somatic;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of 294 kb to 2.7 Mb including the PRKACA gene on chromosome 19p13;

Laboratory abnormalities : Increased serum cortisol;

Prefixed ID : #615830;

Details

Origin ID

615830;

UMLS CUI

C4014425;

Automatic exact mappings (from CISMeF team)
- PRKACA wt Allele [NCIt concept]
DO Cross reference
- primary pigmented nodular adrenocortical disease [DO Concept]
Genes related to phenotype
- Protein kinase, camp-dependent, catalytic, alpha [OMIM gene]
HPO term(s)
- Acne [HPO term]
- Adrenal hyperplasia [HPO term]
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Depression [HPO term]
- Diabetes mellitus [HPO term]
- Dorsocervical fat pad [HPO term]
- Emotional lability [HPO term]
- Fragile skin [HPO term]
- Hirsutism [HPO term]
- Hypertension [HPO term]
- Increased body weight [HPO term]
- Increased circulating cortisol level [HPO term]
- Moon facies [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Primary hypercortisolism [HPO term]
- Proximal muscle weakness [HPO term]
ORDO concept(s)
- Primary pigmented nodular adrenocortical disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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