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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620542
http://purl.bioontology.org/ontology/OMIM/620542
|
|---|---|
| Preferred Name | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 |
| Synonyms |
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
HMNR10
VRK1-RELATED MOTOR NEURON DISEASE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
HMNR10
VRK1-RELATED MOTOR NEURON DISEASE
|
|---|---|
| prefLabel | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
|
| Gene Symbol |
HMNR10
VRK1
PCH1A
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| Scope Statement | Slowly progressive [MISCELLANEOUS]
Proximal muscle involvement (later in disease process) [MISCELLANEOUS]
Variable age at onset (range infancy to adult) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Patients with earlier onset have a more severe disorder with faster progression [MISCELLANEOUS]
Upper limb involvement (in some patients) [MISCELLANEOUS]
Caused by mutation in the VRK1 serine-threonine kinase 1 gene (VRK1, 602168.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 14q32
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 620542
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5882703
|
| 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 |