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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
2 OMIM references -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Metachromatic leukodystrophy, late infantile form
2 associated genes
No signs/symptoms info
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Metachromatic leukodystrophy, late infantile form

GDAP1
(UniProt - OMIM)
 ARSA
(UniProt - OMIM)
PSAP
(UniProt - OMIM)

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


Citations in the biomedical literature:


Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
GDAP1
Metachromatic leukodystrophy, late infantile form
ARSA PSAP



Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Metachromatic leukodystrophy, late infantile form

Synonym(s):
- ARCMT2K
- Autosomal recessive axonal CMT4C4
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Synonym(s):
- Arylsulfatase A deficiency, late infantile form
- MLD, late infantile 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.