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Charcot-Marie-Tooth disease type 4A
1 OMIM reference -
1 associated gene
30 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
17q11 microdeletion syndrome
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant methemoglobinemia
Beta-thalassemia intermedia
Beta-thalassemia major
Delta-beta-thalassemia
Dominant beta-thalassemia
Encephalopathy due to prosaposin deficiency
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Infantile Krabbe disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Synonym(s):
- CMT4A
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535419
Gene symbol UniProt reference OMIM reference
GDAP1 Q8TB36606598
No signs/symptoms info available.