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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

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Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Friedreich Ataxia (D005621) 6
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847)
..Hypotonia-Cystinuria Syndrome (C564710)
..Kearns-Sayre Syndrome (D007625) 1
..Leigh Disease (D007888) 12
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Complex III Deficiency (C565128)
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Mitochondrial Phosphate Carrier Deficiency (C563665)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353)
..Wolfram Syndrome 2 (C565733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2531

Name:

Combined Oxidative Phosphorylation Deficiency 5

Definition:

Alternative IDs:

OMIM:611719

ParentIDs:

MESH:D008661|MESH:D028361

TreeNumbers:

C16.320.565/C567126 |C18.452.648/C567126 |C18.452.660/C567126

Synonyms:

COXPD5

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C567126
MeSH: C567126
OMIM: 611719;

Genes: MRPS22;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0030674	Antenatal onset
3	HP:0003577	Congenital onset
4	HP:0000091	Abnormal renal tubule morphology
5	HP:0001560	Abnormality of the amniotic fluid
6	HP:0001541	Ascites
7	HP:0001522	Death in infancy
8	HP:0012448	Delayed myelination
9	HP:0000969	Edema
10	HP:0001290	Generalized hypotonia
11	HP:0001510	Growth delay
12	HP:0001639	Hypertrophic cardiomyopathy
13	HP:0002079	Hypoplasia of the corpus callosum
14	HP:0001252	Hypotonia
15	HP:0002151	Increased serum lactate
16	HP:0002352	Leukoencephalopathy
17	HP:0000369	Low-set ears
18	HP:0001942	Metabolic acidosis
19	HP:0000252	Microcephaly
20	HP:0008936	Muscular hypotonia of the trunk
21	HP:0000358	Posteriorly rotated ears
22	HP:0005989	Redundant neck skin
23	HP:0000278	Retrognathia
24	HP:0001250	Seizure
25	HP:0002510	Spastic tetraplegia

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	Disease_hgmd
NM_020191.2(MRPS22):c.509G>A (p.Arg170His)	56945	MRPS22	Pathogenic	119478059	RCV000005019;	N	MedGen:C2673642,OMIM:611719,ORPHA:137908	3	139069025	139069025	NM_020191.2:c.509G>A	NP_064576.1:p.Arg170His	NC_000003.11:g.139069025G>A	OMIM Allelic Variant:605810.0001	C2673642 611719 Combined oxidative phosphorylation deficiency 5
NM_020191.2(MRPS22):c.644T>C (p.Leu215Pro)	56945	MRPS22	Pathogenic	387906924	RCV000023481;	N	MedGen:C2673642,OMIM:611719,ORPHA:137908	3	139069160	139069160	NM_020191.2:c.644T>C	NP_064576.1:p.Leu215Pro	NC_000003.11:g.139069160T>C	OMIM Allelic Variant:605810.0002	C2673642 611719 Combined oxidative phosphorylation deficiency 5