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Hereditary sensory and autonomic neuropathy type 2

3 OMIM references -
4 associated genes
15 signs/symptoms

COMMON GENES: 1

Erythromelalgia

1 associated gene
11 signs/symptoms

Hereditary sensory and autonomic neuropathy type 2

Erythromelalgia

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


COMMON GENES	SCN9A

Citations in the biomedical literature:

Hereditary sensory and autonomic neuropathy type 2		Erythromelalgia
	Synonym(s): - Autosomal recessive sensory radicular neuropathy - HSAN2 - Neurogenic acroosteolysis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare skin disease

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

	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: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: No OMIM references 1 MeSH reference: D004916

Hereditary sensory and autonomic neuropathy type 2		Erythromelalgia
	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 - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Tapered fingers - Wormian bones		Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Peripheral neuropathy Frequent - Pruritus / itching Occasional - Acute ischemia of the lower limbs - Acute ischemic syndrome - Hypothermia - Myeloproliferative syndrome / chronic leukemia - Platelet disorders / thrombopathies - Repeat respiratory infections - Vascularitis / vasculitides / arteritis