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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
15 signs/symptoms
Semantic dementia
Hereditary sensory and autonomic neuropathy type 2

C9ORF72 FAM134B
CHMP2B KIF1A
GRN SCN9A
MAPT WNK1
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
WNK1



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Hereditary sensory and autonomic neuropathy type 2
FAM134B KIF1A SCN9A WNK1



Semantic dementia
Hereditary sensory and autonomic neuropathy type 2

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

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: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
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:
No OMIM references
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



Semantic dementia

(no data available)