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Hereditary sensory and autonomic neuropathy type 2

3 OMIM references -
4 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Carney complex

2 OMIM references -
1 associated gene
55 signs/symptoms

Hereditary sensory and autonomic neuropathy type 2

Carney complex

FAM134B	(UniProt - OMIM)	PRKAR1A	(UniProt - OMIM)
KIF1A	(UniProt - OMIM)
SCN9A	(UniProt - OMIM)
WNK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	WNK1	(0.63)	PRKAR1A

Citations in the biomedical literature:

Hereditary sensory and autonomic neuropathy type 2		Carney complex
	Synonym(s): - Autosomal recessive sensory radicular neuropathy - HSAN2 - Neurogenic acroosteolysis		Synonym(s): - Carney syndrome - Myxoma - spotty pigmentation - endocrine overactivity

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Neoplasms -

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

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


COMMON SIGNS	- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Hereditary sensory and autonomic neuropathy type 2		Carney complex
	Very frequent - Ankle anomalies - Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperhidrosis / increased sweating - Knee anomalies (excluding patella) - Lordosis - Osteolysis / osteoclasia / bone destruction / erosions - Tapered fingers - Wormian bones		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 - 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 - Osteoarthritis - 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 - 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 - Striae - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes - Weight loss / loss of appetite / break in weight curve / general health alteration