Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of mitochondrial metabolism (HP:0003287)help
Parent Node:
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Abnormality of the musculature (HP:0003011)help
..Starting node
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Abnormal mitochondria in muscle tissue (HP:0008316)help
Term ID: 8316
Name: Abnormal mitochondria in muscle tissue
Synonym: Abnormal mitochondria in muscle
Definition: An abnormality of the mitochondria in muscle tissue.
Comments:
Reference: HP:0008316
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal axial muscle morphology (HP:0040286) help
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal morphology of musculature of pharynx (HP:0430015) help
..expandAbnormal morphology of the abdominal musculature (HP:0010991) help
..expandAbnormal morphology of the chest musculature (HP:0410167) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal morphology of the pelvis musculature (HP:0001469) help
..expandAbnormal morphology of the shoulder musculature (HP:0410169) help
..expandAbnormal muscle physiology (HP:0011804) help
..expandAbnormal skeletal muscle morphology (HP:0011805) help
..expandAbnormality of facial musculature (HP:0000301) help
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of the back musculature (HP:0410168) help
..expandAbnormality of the diaphragm (HP:0000775) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
..expandAbnormality of the musculature of the limbs (HP:0009127) help
..expandAbnormality of the musculature of the thorax (HP:0009131) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandCalcification of muscles (HP:0100249) help
..expandGastroparesis (HP:0002578) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
..expandMuscle hemorrhage (HP:0040242) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandobsolete Abnormality of skeletal muscles (HP:0040290) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0COX1 CL E G H45127419ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0COX2 CL E G H45137421ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0COX3 CL E G H45147422ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0ND1 CL E G H45357455ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0ND4 CL E G H45387459ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0ND5 CL E G H45407461ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0ND6 CL E G H45417462ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNF CL E G H45587481ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNH CL E G H45647487ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNQ CL E G H45727495ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040281 - Very frequent
HP:0008316HP:0008316Abnormal mitochondria in muscle tissue0TRNW CL E G H45787501ORPHA:550MELASHP:0040281 - Very frequent


Genes (47) :AFG3L2 COX1 COX2 COX3 FOXRED1 MYH7 ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL SDHA TIMMDC1 TMEM126B TRNF TRNH TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW

Diseases (6) :ORPHA:313772 ORPHA:550 ORPHA:2609 ORPHA:59135 OMIM:252011 ORPHA:663
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.