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Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant limb-girdle muscular dystrophy type 1B
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Autosomal dominant limb-girdle muscular dystrophy type 1B

GFM1
(UniProt - OMIM)
 LMNA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GFM1
(0.72)
LMNA


Citations in the biomedical literature:


Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
GFM1
Autosomal dominant limb-girdle muscular dystrophy type 1B
LMNA



Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Autosomal dominant limb-girdle muscular dystrophy type 1B

Synonym(s):
- Hepatoencephalopathy due to COXPD1
Synonym(s):
- LGMD1B
- Limb-girdle muscular dystrophy due to lamin A/C deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.