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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618511
http://purl.bioontology.org/ontology/OMIM/618511
|
|---|---|
| Preferred Name | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY |
| Synonyms |
HMSN VIC
CMT6C
HMSN6C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6C
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HMSN VIC
CMT6C
HMSN6C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6C
|
|---|---|
| prefLabel | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY
|
| Gene Symbol |
PNK
PKH
HMSN6C
PDXK
|
| Scope Statement | Treatment with pyridoxal 5-prime phosphate supplementation may result in amelioration of symptoms [MISCELLANEOUS]
Two unrelated families have been reported (last curated July 2019) [MISCELLANEOUS]
Onset of optic atrophy in adulthood [MISCELLANEOUS]
Caused by mutation in the pyridoxal kinase gene (PDXK, 179020.0001) [MOLECULAR BASIS]
Onset of peripheral neuropathy in the first decade [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 21q22.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618511
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193137
|
| 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 |