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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Combined oxidative phosphorylation defect type 13
Distal hereditary motor neuropathy type 2

PNPT1 HSPB1
HSPB3
HSPB8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PNPT1
(0.49)
HSPB1



Citations in the biomedical literature:


Combined oxidative phosphorylation defect type 13
PNPT1
Distal hereditary motor neuropathy type 2
HSPB1 HSPB3 HSPB8



Combined oxidative phosphorylation defect type 13
Distal hereditary motor neuropathy type 2

Synonym(s):
- COXPD13

Synonym(s):
- Distal spinal muscular atrophy type 2
- dHMN2
- dSMA2

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic 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:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references

No signs/symptoms info available.