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Autosomal dominant Emery-Dreifuss muscular dystrophy
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Methylmalonic acidemia with homocystinuria, type cblX
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant Emery-Dreifuss muscular dystrophy
Methylmalonic acidemia with homocystinuria, type cblX

LMNA
(UniProt - OMIM)
 HCFC1
(UniProt - OMIM)
SYNE1
(UniProt - OMIM)
SYNE2
(UniProt - OMIM)
TMEM43
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.49)
HCFC1


Citations in the biomedical literature:


Autosomal dominant Emery-Dreifuss muscular dystrophy
LMNA SYNE1 SYNE2 TMEM43
Methylmalonic acidemia with homocystinuria, type cblX
HCFC1



Autosomal dominant Emery-Dreifuss muscular dystrophy
Methylmalonic acidemia with homocystinuria, type cblX

Synonym(s):
(no synonyms)

Synonym(s):
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
- Methylmalonic aciduria with homocystinuria, type cblX
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.