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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Charcot-Marie-Tooth disease type 2H
Metachromatic leukodystrophy, juvenile form

GDAP1 ARSA
PSAP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GDAP1
(0.49)
PSAP



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 2H
GDAP1
Metachromatic leukodystrophy, juvenile form
ARSA PSAP



Charcot-Marie-Tooth disease type 2H
Metachromatic leukodystrophy, juvenile form

Synonym(s):
- AR-CMT2C
- Autosomal recessive axonal CMT4C2
- Axonal Charcot-Marie-Tooth disease with pyramidal involvement

Synonym(s):
- Arylsulfatase A deficiency, juvenile form
- MLD, juvenile form

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C535415
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.