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Distal hereditary motor neuropathy type 5
2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
Distal hereditary motor neuropathy type 5
Distal 17p13.3 microdeletion syndrome

BSCL2
(UniProt - OMIM)
 YWHAE
(UniProt - OMIM)
GARS
(UniProt - OMIM)
REEP1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
REEP1
(0.63)
YWHAE


Citations in the biomedical literature:


Distal hereditary motor neuropathy type 5
BSCL2 GARS REEP1
Distal 17p13.3 microdeletion syndrome
YWHAE



Distal hereditary motor neuropathy type 5
Distal 17p13.3 microdeletion syndrome

Synonym(s):
- Distal spinal muscular atrophy type 5
- dHMN5
Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.