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1 OMIM reference -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Dejerine-Sottas syndrome
Methylmalonic acidemia with homocystinuria, type cblX

EGR2 HCFC1
MPZ
PMP22
PRX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EGR2
(0.74)
HCFC1



Citations in the biomedical literature:


Dejerine-Sottas syndrome
EGR2 MPZ PMP22 PRX
Methylmalonic acidemia with homocystinuria, type cblX
HCFC1



Dejerine-Sottas syndrome
Methylmalonic acidemia with homocystinuria, type cblX

Synonym(s):
- Charcot-Marie-Tooth disease type 3
- HMSN 3
- Hereditary motor and sensory neuropathy type 3
- Hypertrophic neuropathy of infancy

Synonym(s):
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
- Methylmalonic aciduria with homocystinuria, type cblX

Classification (Orphanet):
- 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:
Class of prevalence: -
Average age onset: neonatal/infancy
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: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: C538392
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.