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Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Synonym(s):
- CMTDIE
- Charcot-Marie-Tooth disease - nephropathy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
INF2 Q27J81610982
No signs/symptoms info available.