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Autosomal dominant Charcot-Marie-Tooth disease type 2B
1 OMIM reference -
1 associated gene
23 connected diseases
No signs/symptoms info
Disease Type of connection
Choroideremia
Fibronectin glomerulopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal dominant hypohidrotic ectodermal dysplasia
Behavioral variant of frontotemporal dementia
Chuvash erythrocytosis
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial isolated dilated cardiomyopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Muscular dystrophy, Selcen type
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Von Hippel-Lindau disease
Well-differentiated liposarcoma
Kufor-Rakeb syndrome
Parkinsonim due to ATP13A2 deficiency
Synonym(s):
- CMT2B
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RAB7A P51149602298
No signs/symptoms info available.