MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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 11 (OMIM:615084) L: 00027;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184) L: 00527;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418) L: 00028;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471) L: 00029;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896) L: 00505;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156) L: 00506;
........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)
........Mitochondrial myopathy with lactic acidosis (C537476) L: 00408;
........MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209) L: 00509;
........Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045;
........Myopathy, Mitochondrial, Lethal Infantile (C564017) L: 00172;
........Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168;
........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;
..Chanarin-Dorfman Syndrome (C536560)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..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)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
..Muscle Cramp (D009120) 3
..MUSCLE HYPERTROPHY (OMIM:614160)
..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 DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..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, 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)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6 C:2
..Rippling muscle disease, 1 (C535686)
..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)
..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:

8111

Name:

Mitochondrial Myopathies

Definition:

A group of muscle diseases associated with abnormal mitochondria function.

Alternative IDs:

DO:DOID:699|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:0001290	Generalized hypotonia
3	HP:0002240	Hepatomegaly
4	HP:0001265	Hyporeflexia
5	HP:0000158	Macroglossia
6	HP:0003737	Mitochondrial myopathy
7	HP:0001270	Motor delay
8	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
9	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
NM_001397406.1(FDX2):c.159T>G (p.Ala53=)	112812	FDX2	Benign	rs378395	RCV000423979\|RCV001523339\|RCV001702465;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0020714,MedGen:CN294290,OMIM:251900	19	10426422	10426422			19:g.10426422A>C	ClinGen:CA9191309	CN169374 not specified;
NM_001397406.1(FDX2):c.45A>G (p.Leu15=)	112812	FDX2	Benign	rs395782	RCV000440346\|RCV001523340\|RCV001702444;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0020714,MedGen:CN294290,OMIM:251900	19	10426628	10426628			19:g.10426628T>C	ClinGen:CA9191365	CN169374 not specified;

MSeqDR Portal

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

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