ODCs

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Carney complex

2 OMIM references -
1 associated gene
55 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

Carney complex

Anophthalmia/microphthalmia - esophageal atresia

PRKAR1A

(UniProt - OMIM)

SOX2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRKAR1A	(0.63)	SOX2

Citations in the biomedical literature:

Carney complex		Anophthalmia/microphthalmia - esophageal atresia
	Synonym(s): - Carney syndrome - Myxoma - spotty pigmentation - endocrine overactivity		Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3

	Classification (Orphanet): - Rare cardiac disease - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Undescended / ectopic testes / cryptorchidia / unfixed testes

Carney complex		Anophthalmia/microphthalmia - esophageal atresia
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal pigmentation of the oral mucosa / gingivae - Acromegaly - Adrenal neoplasm / tumor / carcinoma / cancer - Cortico-adrenal hyperplasia / hypersecretion - 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 - Asthenia / fatigue / weakness - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Breast neoplasm / tumor / carcinoma / cancer - Broad foot - Chronic arterial hypertension - 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 - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteoarthritis - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Psychic / behavioural troubles - Round face - Thin skin - Transient cerebral ischemia / stroke - Truncal obesity 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 - 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 - Striae - Tall stature / gigantism / growth acceleration - Weight loss / loss of appetite / break in weight curve / general health alteration		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Failure to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication