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Hereditary sensory and autonomic neuropathy type 2

3 OMIM references -
4 associated genes
68 connected diseases
15 signs/symptoms

Disease	Type of connection
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive spastic paraplegia type 30
Channelopathy-associated congenital insensitivity to pain
Dravet syndrome
Erythromelalgia
Generalized epilepsy with febrile seizures-plus context
Paroxysmal extreme pain disorder
Primary erythermalgia
Pseudohypoaldosteronism type 2C
Sodium channelopathy-related small fiber neuropathy
Pseudohypoaldosteronism type 2D
Complete androgen insensitivity syndrome
Distal myopathy with posterior leg and anterior hand involvement
Familial hypospadias
Kennedy disease
Muscle filaminopathy
Partial androgen insensitivity syndrome
17p13.3 microduplication syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acute megakaryoblastic leukemia without Down syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Cardiofaciocutaneous syndrome
Carney complex
Cree leukoencephalopathy
Cystic fibrosis
Distal 17p13.3 microdeletion syndrome
Early infantile epileptic encephalopathy
Estrogen resistance syndrome
Familial atrial myxoma
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Idiopathic central precocious puberty
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile cerebellar-retinal degeneration
Inflammatory myofibroblastic tumor
Isolated ectopia lentis
Juvenile autosomal recessive medullary cystic kidney disease
Kearns-Sayre syndrome
Miller-Dieker syndrome
Muscular dystrophy, Selcen type
Ovarioleukodystrophy
Papillary or follicular thyroid carcinoma
Primary pigmented nodular adrenocortical disease
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 1
Translocation renal cell carcinoma
X-linked non-syndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Cowden syndrome
Proteus syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive primary microcephaly
Peters anomaly
Seckel syndrome

Synonym(s): - Autosomal recessive sensory radicular neuropathy - HSAN2 - Neurogenic acroosteolysis

Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Diseases of the nervous system -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 3 OMIM references - No MeSH references

Gene symbol	UniProt reference	OMIM reference
FAM134B	Q9H6L5	613114
KIF1A	Q12756	601255
SCN9A	Q15858	603415
WNK1	Q9H4A3	605232

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