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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618052
http://purl.bioontology.org/ontology/OMIM/618052
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27 |
| Synonyms |
CMH27
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMH27
|
|---|---|
| prefLabel | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27
|
| Gene Symbol |
MIDORI
CMH27
ALPK3
KIAA1330
|
| Scope Statement | Caused by mutation in the alpha kinase-3 gene (ALPK3, 617608.0001) [MOLECULAR BASIS]
Patients are at risk for potentially fatal ventricular arrhythmias [MISCELLANEOUS]
Death in utero or shortly after birth (in some patients) [MISCELLANEOUS]
An initial phenotype of dilated cardiomyopathy may progress to a hypertrophic phenotype (in some patients) [MISCELLANEOUS]
Heterozygotes are at increased risk for developing later-onset hypertrophic cardiomyopathy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q25.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618052
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748014
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |