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: Metabolism, Inborn Errors (D008661)
..Starting node ..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) L: 00105;
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310) L: 00467;
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801) L: 00495;
..3-Methylglutaconic Aciduria, Type V (C565706) L: 00079;
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169 C:10
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218 C:20
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169 C:9
..CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797) L: 00092;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702) L: 00093;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922) L: 00423;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924) L: 00511;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932) L: 00512;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946) L: 00094;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947) L: 00095;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395) L: 00080;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440) L: 00513;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578) L: 00514;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595) L: 00500;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917) L: 00515;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918) L: 00501;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045) L: 00502;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198) L: 00516;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239) L: 00517;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430) L: 00503;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539) L: 00518;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 (OMIM:616672) L: 00519;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794) L: 00520;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811) L: 00504;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974) L: 00521;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228) L: 00522;
..Combined Oxidative Phosphorylation Deficiency 4 (C565690) L: 00098;
..Combined Oxidative Phosphorylation Deficiency 5 (C567126) L: 00099;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096) L: 00076;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582) L: 00100;
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311) L: 00496;
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2 C:2 L: 00012;
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835) L: 00651;
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..EFAVIRENZ, POOR METABOLISM OF (OMIM:614546)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
..LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135 C:9
..LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016) L: 00474;
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375) L: 00016;
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76 C:2
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..TRYPSINOGEN DEFICIENCY (OMIM:614044)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2769

Name:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

Definition:

Alternative IDs:

DO:DOID:0060286

ParentIDs:

MESH:D008661

TreeNumbers:

C16.320.565/614924 |C18.452.648/614924

Synonyms:

COXPD12 |LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE |LTBL

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 614924
MeSH: 614924
OMIM: 614924;
MSeqDR : 00511;
Genes: EARS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001344	Absent speech
4	HP:0002067	Bradykinesia
5	HP:0001396	Cholestasis	HP:0040283
6	HP:0000175	Cleft palate	HP:0040283
7	HP:0011923	Decreased activity of mitochondrial complex I
8	HP:0011924	Decreased activity of mitochondrial complex III
9	HP:0008347	Decreased activity of mitochondrial complex IV
10	HP:0002376	Developmental regression
11	HP:0006989	Dysplastic corpus callosum
12	HP:0001332	Dystonia NAMDC: Dystonia
13	HP:0001508	Failure to thrive
14	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
15	HP:0001263	Global developmental delay NAMDC: Mental retardation
16	HP:0002240	Hepatomegaly	HP:0040283
17	HP:0002079	Hypoplasia of the corpus callosum
18	HP:0002151	Increased serum lactate
19	HP:0003128	Lactic acidosis
20	HP:0002352	Leukoencephalopathy
21	HP:0001403	Macrovesicular hepatic steatosis	HP:0040283
22	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
23	HP:0000602	Ophthalmoplegia
24	HP:0000508	Ptosis NAMDC: Ptosis
25	HP:0003200	Ragged-red muscle fibers
26	HP:0001250	Seizures NAMDC: Seizures
27	HP:0001285	Spastic tetraparesis
28	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	OtherIDs	Disease_ClinVar
NM_001083614.1(EARS2):c.1547G>A (p.Arg516Gln)	124454	EARS2	Pathogenic/Likely pathogenic	201727231	RCV000763375; RCV000254773;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MedGen:CN517202	16	23535717	23535717	UniProtKB (protein):Q5JPH6#VAR_069247	CN517202 not provided;
NM_001083614.1(EARS2):c.949G>T (p.Gly317Cys)	124454	EARS2	Uncertain significance	746838793	RCV000286269;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23546218	23546218	UniProtKB (protein):Q5JPH6#VAR_069245	CN201731 Combined oxidative phosphorylation deficiency;
NM_001083614.1(EARS2):c.790C>G (p.Leu264Val)	124454	EARS2	Uncertain significance	1555503379	RCV000625893;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23546377	23546377	-	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.610G>A (p.Gly204Ser)	124454	EARS2	Pathogenic	397514592	RCV000033012;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23546557	23546557	OMIM Allelic Variant:612799.0004,UniProtKB (protein):Q5JPH6#VAR_069243	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.502A>G (p.Arg168Gly)	124454	EARS2	Pathogenic	397514591	RCV000033010;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23546665	23546665	OMIM Allelic Variant:612799.0002,UniProtKB (protein):Q5JPH6#VAR_069242	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.500G>A (p.Cys167Tyr)	124454	EARS2	Pathogenic	397514594	RCV000033014;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23546667	23546667	OMIM Allelic Variant:612799.0006,UniProtKB (protein):Q5JPH6#VAR_069241	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.334G>C (p.Ala112Pro)	124454	EARS2	not provided	749048646	RCV000509178;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23555986	23555986	-	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.328G>A (p.Gly110Ser)	124454	EARS2	Pathogenic/Likely pathogenic	201842633	RCV000033011; RCV000624375; RCV000485250;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MeSH:D030342,MedGen:C0950123; MedGen:CN517202	16	23555992	23555992	OMIM Allelic Variant:612799.0003,UniProtKB (protein):Q5JPH6#VAR_069240	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp)	124454	EARS2	Conflicting interpretations of pathogenicity	376103091	RCV000626746; RCV000626746; RCV000033009; RCV000626746; RCV000626746; RCV000626746; RCV000622765; RCV000626746; RCV000626746; RCV000626746; RCV000626746; RCV000255688;	N	Human Phenotype Ontology:HP:0001999,MedGen:C0424503; Human Phenotype Ontology:HP:0000377,MedGen:C0857379; MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; Human Phenotype Ontology:HP:0002069,MedGen:C0494475; Human Phenotype Ontology:HP:0001263,MedGen:C0557	16	23555998	23555998	OMIM Allelic Variant:612799.0001,UniProtKB (protein):Q5JPH6#VAR_069239	C0424503 Abnormal facial shape;
NM_001083614.1(EARS2):c.320G>A (p.Arg107His)	124454	EARS2	Pathogenic/Likely pathogenic	1021330566	RCV000578413; RCV000522647;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MedGen:CN517202	16	23556000	23556000	-	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.286G>A (p.Glu96Lys)	124454	EARS2	Pathogenic	397514593	RCV000033013;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23563479	23563479	OMIM Allelic Variant:612799.0005,UniProtKB (protein):Q5JPH6#VAR_069237	C3554079 614924 Combined oxidative phosphorylation deficiency 12;
NM_001083614.1(EARS2):c.193A>G (p.Lys65Glu)	124454	EARS2	Pathogenic	397514595	RCV000033015;	N	MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051	16	23563572	23563572	OMIM Allelic Variant:612799.0007,UniProtKB (protein):Q5JPH6#VAR_069236	C3554079 614924 Combined oxidative phosphorylation deficiency 12;