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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Charcot-Marie-Tooth disease type 4A
Atypical Gaucher disease due to saposin C deficiency

GDAP1 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 4A
GDAP1
Atypical Gaucher disease due to saposin C deficiency
PSAP



Charcot-Marie-Tooth disease type 4A
Atypical Gaucher disease due to saposin C deficiency

Synonym(s):
- CMT4A

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C535419
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.