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1 OMIM reference -
6 associated genes
No signs/symptoms info
COMMON GENES: 1
3 OMIM references -
4 associated genes
15 signs/symptoms
Dravet syndrome
Hereditary sensory and autonomic neuropathy type 2

GABRG2 FAM134B
PCDH19 KIF1A
SCN1A SCN9A
SCN1B WNK1
SCN2A
SCN9A


COMMON
GENES
SCN9A



Citations in the biomedical literature:


Dravet syndrome
GABRG2 PCDH19 SCN1A SCN1B SCN2A SCN9A

Hereditary sensory and autonomic neuropathy type 2
FAM134B KIF1A WNK1



Dravet syndrome
Hereditary sensory and autonomic neuropathy type 2

Synonym(s):
- SMEI
- Severe myoclonic epilepsy of infancy

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

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references

Hereditary sensory and autonomic neuropathy type 2

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



Dravet syndrome

(no data available)