Pigmented nodular adrenocortical disease, primary, 2

Preferred Label : Pigmented nodular adrenocortical disease, primary, 2;

Symbol : PPNAD2;

CISMeF acronym : PPNAD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cushing syndrome, adrenal, due to ppnad2; Pigmented micronodular adrenocortical disease, primary, 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphodiesterase 11A gene (PDE11A, 604961.0001);

Laboratory abnormalities : Increased serum cortisol; Paradoxical increased cortisol secretion on dexamethasone suppression test; Decreased serum ACTH;

Prefixed ID : #610475;

Détails

Origin ID

610475;

UMLS CUI

C1864851;

Broader ORDO disease(s)
- Primary pigmented nodular adrenocortical disease [ORDO Disease]
Currated CISMeF NLP mapping
- pigmented nodular adrenocortical disease, primary, 2 [MeSH concept]
- pigmented nodular adrenocortical disease, primary, 2 [MeSH Supplementary Concept]
DO Cross reference
- primary pigmented nodular adrenocortical disease [DO Concept]
Genes related to phenotype
- Phosphodiesterase 11a [OMIM gene]
HPO term(s)
- Agitation [HPO term]
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Cushing syndrome [HPO term]
- Decreased circulating ACTH level [HPO term]
- Depression [HPO term]
- Emotional lability [HPO term]
- Hypertension [HPO term]
- Increased circulating cortisol level [HPO term]
- Kyphosis [HPO term]
- Mental deterioration [HPO term]
- Mood changes [HPO term]
- Onset [HPO term]
- Onset in childhood or early adulthood [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Paradoxical increased cortisol secretion on dexamethasone suppression test [HPO term]
- Pigmented micronodular adrenocortical disease [HPO term]
- Primary hypercortisolism [HPO term]
- Psychosis [HPO term]
- Round face [HPO term]
- Striae distensae [HPO term]
- Thin skin [HPO term]
- Truncal obesity [HPO term]
ORDO concept(s)
- Primary pigmented nodular adrenocortical disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pigmented nodular adrenocortical disease, primary, 2 [MeSH Supplementary Concept]
- pigmented nodular adrenocortical disease, primary, 2 [MeSH concept]
Validated automatic mappings to NTBT
- Primary pigmented nodular adrenocortical disease [ORDO Disease]
- primary pigmented nodular adrenocortical disease [DO Concept]

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