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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618036
http://purl.bioontology.org/ontology/OMIM/618036
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD |
| Synonyms |
CMT2DD
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMT2DD
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
|
| Gene Symbol |
ATP1A1
CMT2DD
HOMGSMR2
|
| Scope Statement | Variable age at onset (range late childhood to fifties) [MISCELLANEOUS]
Slowly progressive [MISCELLANEOUS]
Some patients have upper limb involvement [MISCELLANEOUS]
Lower limbs more affected than upper limbs [MISCELLANEOUS]
Some patients may have a subclinical course with minimal neurologic findings [MISCELLANEOUS]
Most patients remain ambulatory [MISCELLANEOUS]
Caused by mutation in the ATPase, Na+/K+ transporting, alpha-1 polypeptide gene (ATP1A1, 182310.0001) [MOLECULAR BASIS]
Most patients have onset in teens or twenties [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 1p13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618036
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4747974
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |