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1 OMIM reference -
2 associated genes
6 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Roussy-Lévy syndrome
Charcot-Marie-Tooth disease type 1E

MPZ PMP22
PMP22


COMMON
GENES
PMP22


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MPZ
(0.94)
PMP22



Citations in the biomedical literature:


Roussy-Lévy syndrome
MPZ PMP22
Charcot-Marie-Tooth disease type 1E



Roussy-Lévy syndrome
Charcot-Marie-Tooth disease type 1E

Synonym(s):
- Hereditary areflexic dystasia, Roussy-Lévy type

Synonym(s):
- CMT1E
- Charcot-Marie-Tooth disease - deafness

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537986 / C538078

Roussy-Lévy syndrome

Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Nerve conduction abnormality



Charcot-Marie-Tooth disease type 1E

(no data available)