Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606071
http://purl.bioontology.org/ontology/OMIM/606071
|
|---|---|
| Preferred Name | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC |
| Synonyms |
CMT2C
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C
HMSN IIC
HMSN2C
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMT2C
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C
HMSN IIC
HMSN2C
|
|---|---|
| prefLabel | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
|
| Gene Symbol |
SSQTL1
SPSMA
HMSN2C
CMT2C
SMAL
TRPV4
BCYM3
VROAC
See more
See less
|
| Scope Statement | Variable age at onset (range birth to 60 years) [MISCELLANEOUS]
Worsening of hand weakness with cold (in some) [MISCELLANEOUS]
Earlier onset associated with increased severity [MISCELLANEOUS]
Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0008) [MOLECULAR BASIS]
Phenotypic variability [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Clinical overlap with distal hereditary motor neuropathy type VII (dHMN VII, 158580) [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 12q24.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 606071
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1853710
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |