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

PMP22 MPZ
PMP22


COMMON
GENES
PMP22


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

Synonym(s):
- CMT1A
- Microduplication 17p12

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

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 1A

(no data available)