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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/302800
http://purl.bioontology.org/ontology/OMIM/302800
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 |
| Synonyms |
CMTX
CMT2, FORMERLY
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1
HMSN, X-LINKED
CMTX1
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED
HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMTX
CMT2, FORMERLY
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1
HMSN, X-LINKED
CMTX1
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED
HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED
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|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
|
| Gene Symbol |
CMTX1
CX32
GJB1
|
| Scope Statement | Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]
Slow progression [MISCELLANEOUS]
Both demyelinating and axonal features [MISCELLANEOUS]
Caused by mutation in the connexin-32 gene (GJB1, 304040.0001) [MOLECULAR BASIS]
Heterozygous females more mildly affected than hemizygous males [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Upper limb involvement occurs later [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | Xq13.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 302800
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0393808
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |