Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Muscle abnormality related to mitochondrial dysfunction (HP:0003800)

..Starting node
..Mitochondrial myopathy (HP:0003737)

Term ID:

3737

Name:

Mitochondrial myopathy

Synonym:

Definition:

A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.

Comments:

Reference:

HP:0003737

Genes and Diseases:

Child Nodes:

........

Lethal infantile mitochondrial myopathy (HP:0009069)

Sister Nodes:

Cytochrome C oxidase-negative muscle fibers (HP:0003688)

Depletion of mitochondrial DNA in muscle tissue (HP:0009141)

Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003737	HP:0003737	Mitochondrial myopathy	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0003737	HP:0003737	Mitochondrial myopathy	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.	57
HP:0003737	HP:0003737	Mitochondrial myopathy	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0003737	HP:0003737	Mitochondrial myopathy	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0003737	HP:0003737	Mitochondrial myopathy	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0003737	HP:0003737	Mitochondrial myopathy	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0003737	HP:0003737	Mitochondrial myopathy	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent	214
HP:0003737	HP:0003737	Mitochondrial myopathy	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0003737	HP:0003737	Mitochondrial myopathy	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003737	HP:0003737	Mitochondrial myopathy	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003737	HP:0003737	Mitochondrial myopathy	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0003737	HP:0003737	Mitochondrial myopathy	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0003737	HP:0003737	Mitochondrial myopathy	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003737	HP:0003737	Mitochondrial myopathy	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003737	HP:0003737	Mitochondrial myopathy	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	57
HP:0003737	HP:0003737	Mitochondrial myopathy	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003737	HP:0003737	Mitochondrial myopathy	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003737	HP:0003737	Mitochondrial myopathy	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0003737	HP:0003737	Mitochondrial myopathy	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	45
HP:0003737	HP:0009069	Lethal infantile mitochondrial myopathy	1	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile	.

Genes (65) :AGK ATP6 CAV3 COX1 COX2 COX3 CYTB DGUOK DNA2 FDX2 FOXRED1 ISCU MSTO1 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 OPA1 PNPLA8 POLG POLG2 PUS1 RRM2B SLC25A4 TIMMDC1 TK2 TMEM126B TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TWNK TYMP YARS2

Diseases (21) :OMIM:212350 ORPHA:255210 OMIM:551500 OMIM:123320 OMIM:540000 OMIM:617070 ORPHA:352470 OMIM:251900 ORPHA:2609 OMIM:255125 ORPHA:502423 ORPHA:1215 OMIM:251950 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:613662 OMIM:258450 ORPHA:2598 OMIM:617069 OMIM:551000

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen