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Distal hereditary motor neuropathy type 5
2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal hereditary motor neuropathy type 5
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GARS
(0.49)
ASNS


Citations in the biomedical literature:


Distal hereditary motor neuropathy type 5
BSCL2 GARS REEP1
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
ASNS



Distal hereditary motor neuropathy type 5
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Synonym(s):
- Distal spinal muscular atrophy type 5
- dHMN5
Synonym(s):
- Asparagine synthetase deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
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:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.