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Young adult-onset distal hereditary motor neuropathy
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Congenital stationary night blindness
Retinitis pigmentosa
Retinitis punctata albescens
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Synonym(s):
- Autosomal recessive distal spinal muscular atrophy type 5
- Young adult-onset dHMN
- dSMA5
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: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DNAJB2 P25686604139
No signs/symptoms info available.