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Charcot-Marie-Tooth disease type 1F
1 OMIM reference -
1 associated gene
31 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Severe early-onset axonal neuropathy due to NEFL deficiency
Isolated focal cortical dysplasia type IIb
Lymphangioleiomyomatosis
Tuberous sclerosis
Pulverulent cataract
Charcot-Marie-Tooth disease type 4B1
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
Craniometaphyseal dysplasia
Distal hereditary motor neuropathy type 2
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hypoplastic left heart syndrome
Oculodentodigital dysplasia
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Syndactyly type 3
Young adult-onset Parkinsonism
Griscelli disease type 1
Griscelli disease type 3
Neuroectodermal melanolysosomal disease
Amyotrophic lateral sclerosis
Synonym(s):
- CMT1F
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NEFL P07196162280
No signs/symptoms info available.