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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/605588
http://purl.bioontology.org/ontology/OMIM/605588
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|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 |
| Synonyms |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B1
CMT2B1
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B1
CMT2B1
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
|
| Gene Symbol |
HGPS
EMD2
LMNA
LMN1
CMD1A
FPLD2
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| Scope Statement | Onset in second decade [MISCELLANEOUS]
Caused by mutation in the lamin A/C gene (LMNA, 150330.0020) [MOLECULAR BASIS]
Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]
Severe course [MISCELLANEOUS]
Genetic heterogeneity (see CMT2B2, 605589) [MISCELLANEOUS]
For autosomal dominant forms of axonal neuropathy, see CMT2A (118210) [MISCELLANEOUS]
Upper limb involvement may occur later [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1q21.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 605588
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1854154
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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 |