ODCs

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Carney complex

2 OMIM references -
1 associated gene
55 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Primary pigmented nodular adrenocortical disease

3 OMIM references -
3 associated genes
15 signs/symptoms

Carney complex

Primary pigmented nodular adrenocortical disease

PRKAR1A	(UniProt - OMIM)	PDE11A	(UniProt - OMIM)
		PDE8B	(UniProt - OMIM)
		PRKAR1A	(UniProt - OMIM)


COMMON GENES	PRKAR1A

Citations in the biomedical literature:

Carney complex		Primary pigmented nodular adrenocortical disease
	Synonym(s): - Carney syndrome - Myxoma - spotty pigmentation - endocrine overactivity		Synonym(s): - PPNAD

	Classification (Orphanet): - Rare cardiac disease - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare infertility

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: D056733		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Asthenia / fatigue / weakness - Chronic arterial hypertension - Cortico-adrenal hyperplasia / hypersecretion - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Striae - Thin skin - Truncal obesity

Carney complex		Primary pigmented nodular adrenocortical disease
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal pigmentation of the oral mucosa / gingivae - Acromegaly - Adrenal neoplasm / tumor / carcinoma / cancer - Autosomal dominant inheritance - Cushingoid morphotype - Endocrine tumor - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Heart / cardiac tumor - Pigmented naevi / naevus pigmentosus / lentigo - Skin tumors / lumps / epidermal cysts - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Subcutaneous nodules / lipomas / tumefaction / swelling - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Thyroid neoplasm / tumor / carcinoma / cancer Frequent - Abnormal fat distribution / lipodystrophy - Articular / joint pain / arthralgia - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Breast neoplasm / tumor / carcinoma / cancer - Broad foot - Coarse face - Fever / chilling - Generalized obesity - Heart / cardiac failure - Hirsutism / hypertrichosis / Increased body hair - Hydrarthrosis / articular / joint effusion - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin-independent / type 2 diabetes - Kyphosis - Large hand - Osteoarthritis - Psychic / behavioural troubles - Round face - Transient cerebral ischemia / stroke Occasional - Anaemia - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Mitral valve atresia / stenosis / narrowing - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Motor deficit / trouble - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Precocious puberty - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes - Weight loss / loss of appetite / break in weight curve / general health alteration		Very frequent - Adrenal glands anomalies Frequent - Diabetes mellitus - Late puberty / hypogonadism / hypogenitalism - Muscle weakness / flaccidity - Mutiple fractures / bone fragility - Short stature / dwarfism / nanism Occasional - Myopathy