| Term ID: |
31318 |
| Name: |
Myofiber disarray |
| Synonym: |
Myocardial fiber disarray; Myocardial fibre disarray |
| Definition: |
A nonparallel arrangement of cardiac myocytes. |
| Comments: |
|
| Reference: |
HP:0031318 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Abnormal morphology of myocardial trabeculae (HP:0030681) 
|
..Abnormal ventricular myocardium morphology (HP:0031316)
|
..Cardiac amyloidosis (HP:0030843)
|
..Cardiomyopathy (HP:0001638)
|
..Fatty replacement of ventricular myocardial tissue (HP:0031317)
|
..Focal necrosis of right ventricular muscle cells (HP:0003338)
|
..Myocardial fibrosis (HP:0001685)
|
..Myocardial immune cell infiltration (HP:0031321)
|
..Myocardial necrosis (HP:0001700)
|
..Myocarditis (HP:0012819)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:612158 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | | | | 307 | | | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | LMOD2 CL E G H | 442721 | 6648 | OMIM:619897 | | | | | | | | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | . | | | 235 | | | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | | | HP:0031318 | HP:0031318 | Myofiber disarray | 0 | VCL CL E G H | 7414 | 12665 | OMIM:613255 | Cardiomyopathy, familial hypertrophic, 15 | | | | 248 | | |
Genes (8) :ACTN2 LMOD2 MYBPC3 MYL2 PRKAG2 SCO2 SMPX VCL
Diseases (8) :OMIM:612158 OMIM:619897 OMIM:115197 OMIM:619424 OMIM:600858 OMIM:604377 OMIM:301075 OMIM:613255 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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