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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607734
http://purl.bioontology.org/ontology/OMIM/607734
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F |
| Synonyms |
CMT1F
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMT1F
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
|
| Gene Symbol |
CMT2E
NEFL
CMT1F
CMTDIG
|
| Scope Statement | Caused by mutation in the neurofilament light chain gene (NEFL, 162280.0003) [MOLECULAR BASIS]
Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]
Upper limb involvement usually occurs later [MISCELLANEOUS]
Onset in infancy or childhood (range 1 to 13 years) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Autosomal recessive inheritance has been described in 2 families [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8p21
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 607734
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1843164
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |