MSeqDR Mitochondrial disease browser phenotype pathogenic gene and muatation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Mitochondrial Myopathies (D017240)
Child Nodes:
........Combined Oxidative Phosphorylation Deficiency 3 (C566467) L: 00097;
........Mitochondrial cytopathy (C540770)
........MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560) L: 00030;
........Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
........Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
........Mitochondrial Encephalomyopathies (D017237) 13 C:10
........Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
........Mitochondrial Myopathy with Diabetes (C564026) L: 00146;
........Mitochondrial myopathy with lactic acidosis (C537476) L: 00408;
........Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045;
........Myopathy, Mitochondrial, Lethal Infantile (C564017) L: 00172;
........Neuropathy ataxia and retinis pigmentosa (C537396)
........Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
........Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945) L: 00417;
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5 C:2
..Muscular Disorders, Atrophic (D020966) 120 C:1
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971) L: 00409;
..Myopathy with Lactic Acidosis, Hereditary (C564972) L: 00476;
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925) L: 00410;
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453) L: 00412;
..Rhabdomyolysis (D012206) 6 C:2
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778) L: 00473;
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353) L: 00436;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7327

Name:

Mitochondrial Myopathies

Definition:

A group of muscle diseases associated with abnormal mitochondria function.

Alternative IDs:

OMIM:251900

ParentIDs:

MESH:D009135|MESH:D028361

TreeNumbers:

C05.651.460 |C10.668.491.500 |C18.452.660.560

Synonyms:

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: D017240
MeSH: D017240
OMIM: 251900;
MSeqDR : 00400;
MSeqDR has 22 matches in descendants: 00023; 00026; 00030; 00033; 00034; 00037; 00039; 00045; 00047; 00048; 00049; 00074; 00097; 00143; 00146; 00163; 00172; 00408; 00411; 00417; 00472; 00482;
Genes:

Phenotypes

1	HP:0001939	Abnormality of metabolism/homeostasis
2	HP:0002240	Hepatomegaly
3	HP:0001265	Hyporeflexia
4	HP:0000158	Macroglossia
5	HP:0003737	Mitochondrial myopathy
6	HP:0001270	Motor delay
7	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
8	HP:0001252	Muscular hypotonia NAMDC: Hypotonia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
m.5591G>A	4553	MT-TA	Pathogenic	121434458	RCV000010251;	N	MedGen:C0162670,OMIM:251900	M	5591	5591	-	-	NC_012920.1:m.5591G>A	OMIM Allelic Variant:590000.0002	C0162670 251900 Mitochondrial myopathy
NC_012920.1:m.5610G>A	4553	MT-TA	Pathogenic	786200951	RCV000169781;	N	MedGen:C0162670,OMIM:251900	M	5610	5610	-	-	NC_012920.1:m.5610G>A	-	C0162670 251900 Mitochondrial myopathy
NC_012920.1:m.5631G>A	4553	MT-TA	Pathogenic	786200950	RCV000169780;	N	MedGen:C0162670,OMIM:251900	M	5631	5631	-	-	NC_012920.1:m.5631G>A	-	C0162670 251900 Mitochondrial myopathy
m.12320A>G	4568	MT-TL2	Pathogenic	121434463	RCV000010204;	N	MedGen:C0162670,OMIM:251900	M	12320	12320	-	-	NC_012920.1:m.12320A>G	OMIM Allelic Variant:590055.0002	C0162670 251900 Mitochondrial myopathy
m.4409T>C	4569	MT-TM	Pathogenic	118203884	RCV000010191;	N	MedGen:C0162670,OMIM:251900	M	4409	4409	-	-	NC_012920.1:m.4409T>C	OMIM Allelic Variant:590065.0001	C0162670 251900 Mitochondrial myopathy
m.5521G>A	4578	MT-TW	Pathogenic	199474673	RCV000010166;	N	MedGen:C0162670,OMIM:251900	M	5521	5521	-	-	NC_012920.1:m.5521G>A	OMIM Allelic Variant:590095.0003	C0162670 251900 Mitochondrial myopathy

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000210127	MT-TA	1	1	3	mitochondrially encoded tRNA alanine [Source:HGNC Symbol;Acc:7475]	00400
ENSG00000210191	MT-TL2	1	1	1	mitochondrially encoded tRNA leucine 2 (CUN) [Source:HGNC Symbol;Acc:7491]	00400
ENSG00000210112	MT-TM	1	1	1	mitochondrially encoded tRNA methionine [Source:HGNC Symbol;Acc:7492]	00400
ENSG00000210117	MT-TW	1	1	1	mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501]	00400

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