| Term ID: |
10602 |
| Name: |
Type 2 muscle fiber predominance |
| Synonym: |
Type 2 muscle fibre predominance; Type II muscle fiber predominance; Type II muscle fibre predominance |
| Definition: |
An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). |
| Comments: |
|
| Reference: |
HP:0010602 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Abnormal muscle fiber protein expression (HP:0030089) 
|
..Abnormal muscle glycogen content (HP:0012269)
|
..Abnormality of skeletal muscle fiber size (HP:0012084)
|
..Autophagic vacuoles (HP:0003736)
|
..Central core regions in muscle fibers (HP:0030230)
|
..Centrally nucleated skeletal muscle fibers (HP:0003687)
|
..Deposits immunoreactive to beta-amyloid protein (HP:0003791)
|
..Hypertrophied muscle fibers (HP:0100293)
|
..Increased endomysial connective tissue (HP:0100297)
|
..Increased muscle lipid content (HP:0009058)
|
..Internally nucleated skeletal muscle fibers (HP:0031237)
|
..Motheaten muscle fibers (HP:0100298)
|
..Muscle fiber atrophy (HP:0100295)
|
..Muscle fiber inclusion bodies (HP:0100299)
|
..Muscle fiber necrosis (HP:0003713)
|
..Muscle fiber splitting (HP:0003555)
|
..Myelin-like whorls in vacuolated fibers (HP:0031542)
|
..Necklace skeletal muscle fibers (HP:0031238)
|
..Perifascicular muscle fiber atrophy (HP:0100296)
|
..Ragged-red muscle fibers (HP:0003200)
|
..Reduced muscle carnitine level (HP:0030362)
|
..Rimmed vacuoles (HP:0003805)
|
..Ring fibers (HP:0100305)
|
..Type 1 muscle fiber predominance (HP:0003803)
|
| 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:0010602 | HP:0010602 | Type 2 muscle fiber predominance | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | | | HP:0010602 | HP:0010602 | Type 2 muscle fiber predominance | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | | | HP:0010602 | HP:0010602 | Type 2 muscle fiber predominance | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | | | HP:0010602 | HP:0010602 | Type 2 muscle fiber predominance | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | | | HP:0010602 | HP:0010602 | Type 2 muscle fiber predominance | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | | | HP:0010602 | HP:0010602 | Type 2 muscle fiber predominance | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
Genes (6) :ALG14 CLCN6 COQ5 DYNC1H1 KY POLRMT
Diseases (6) :OMIM:619036 OMIM:619173 OMIM:619028 OMIM:158600 OMIM:617114 OMIM:619743 |
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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