Disease browser and phenotype portal

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Acidosis, Lactic (D000140)
Parent Node: Mitochondrial Myopathies (D017240)
Parent Node: Muscle Hypotonia (D009123)
..Starting node ..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Atonic-Astatic Syndrome of Foerster (C565926)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Carnitine Acetyltransferase Deficiency (C563249)
..Cohen syndrome (C536438)
..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..Emanuel syndrome (C535733)
..Ethanolaminosis (C562651)
..Fumaric aciduria (C538191)
..German Syndrome (C562543)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Hypotonia-Cystinuria Syndrome (C564710)
..Joubert Syndrome 10 (C567582)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Ketoadipicaciduria (C565453)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..Opitz-Kaveggia syndrome (C537923)
..Qazi Markouizos syndrome (C536259)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Scalp ear nipple syndrome (C536623)
..Three M Syndrome 2 (C567862)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2529

Name:

Combined Oxidative Phosphorylation Deficiency 3

Definition:

Alternative IDs:

OMIM:610505

ParentIDs:

MESH:D000140|MESH:D009123|MESH:D017240

TreeNumbers:

C05.651.460/C566467 |C10.597.613.575/C566467 |C10.668.491.500/C566467 |C18.452.076.176.180/C566467 |C18.452.660.560/C566467 |C23.888.592.608.575/C566467

Synonyms:

Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis |COXPD3 |Encephalomyopathy, Respiratory Failure, And Lactic Acidosis

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566467
MeSH: C566467
OMIM: 610505;

Genes: TSFM;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0100543	Cognitive impairment
4	HP:0005157	Concentric hypertrophic cardiomyopathy
5	HP:0003819	Death in childhood
6	HP:0011923	Decreased activity of mitochondrial complex I
7	HP:0011924	Decreased activity of mitochondrial complex III
8	HP:0008347	Decreased activity of mitochondrial complex IV
9	HP:0001558	Decreased fetal movement
10	HP:0001644	Dilated cardiomyopathy	HP:0040283
11	HP:0001332	Dystonia
12	HP:0003236	Elevated circulating creatine kinase concentration
13	HP:0001298	Encephalopathy
14	HP:0008872	Feeding difficulties in infancy
15	HP:0001290	Generalized hypotonia
16	HP:0001263	Global developmental delay
17	HP:0002240	Hepatomegaly
18	HP:0002151	Increased serum lactate
19	HP:0001511	Intrauterine growth retardation
20	HP:0003128	Lactic acidosis
21	HP:0001324	Muscle weakness
22	HP:0001319	Neonatal hypotonia
23	HP:0000648	Optic atrophy
24	HP:0001138	Optic neuropathy
25	HP:0001643	Patent ductus arteriosus
26	HP:0001655	Patent foramen ovale
27	HP:0003812	Phenotypic variability
28	HP:0002878	Respiratory failure
29	HP:0002093	Respiratory insufficiency
30	HP:0003201	Rhabdomyolysis
31	HP:0001250	Seizure
32	HP:0001337	Tremor
33	HP:0002119	Ventriculomegaly
34	HP:0000505	Visual impairment

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_005726.5(TSFM):c.57+4A>G	10102	TSFM	Pathogenic	587777689	RCV000143785;	N	MedGen:C1864840,OMIM:610505,ORPHA:168566	12	58176645	58176645	NM_005726.5:c.57+4A>G		12:g.58176645A>G	OMIM Allelic Variant:604723.0004	C1864840 610505 Combined oxidative phosphorylation deficiency 3
NM_001172696.1(TSFM):c.355G>C (p.Val119Leu)	10102	TSFM	Likely pathogenic	863224936	RCV000199000;	N	MedGen:C1864840,OMIM:610505,ORPHA:168566	12	58180069	58180069	NM_001172696.1:c.355G>C	NP_001166167.1:p.Val119Leu	NC_000012.11:g.58180069G>C	-	C1864840 610505 Combined oxidative phosphorylation deficiency 3
NM_005726.5(TSFM):c.856C>T (p.Gln286Ter)	10102	TSFM	Pathogenic	201754030	RCV000143783; RCV000157550;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1864840,OMIM:610505,ORPHA:168566	12	58190244	58190244	NM_005726.5:c.856C>T	NP_005717.3:p.Gln286Ter	NC_000012.11:g.58190244C>T	OMIM Allelic Variant:604723.0002	C1864840 610505 Combined oxidative phosphorylation deficiency 3; C0007193 Primary dilated cardiomyopathy
NM_001172696.1(TSFM):c.997C>T (p.Arg333Trp)	10102	TSFM	Likely pathogenic;Pathogenic	121909485	RCV000005710; RCV000199000;	N	MedGen:C1864840,OMIM:610505,ORPHA:168566	12	58190322	58190322	NM_001172696.1:c.997C>T	NP_001166167.1:p.Arg333Trp	NC_000012.11:g.58190322C>T	OMIM Allelic Variant:604723.0001	C1864840 610505 Combined oxidative phosphorylation deficiency 3
NM_001172696.1(TSFM):c.997C>T (p.Arg333Trp)	10102	TSFM	Likely pathogenic;Pathogenic	121909485	RCV000005710; RCV000199000;	N	MedGen:C1864840,OMIM:610505,ORPHA:168566	12	58190322	58190322	NM_001172696.1:c.997C>T	NP_001166167.1:p.Arg333Trp	NC_000012.11:g.58190322C>T	OMIM Allelic Variant:604723.0001	C1864840 610505 Combined oxidative phosphorylation deficiency 3
NM_005726.5(TSFM):c.944G>A (p.Cys315Tyr)	10102	TSFM	Pathogenic	587777688	RCV000143784;	N	MedGen:C1864840,OMIM:610505,ORPHA:168566	12	58190332	58190332	NM_005726.5:c.944G>A	NP_005717.3:p.Cys315Tyr	NC_000012.11:g.58190332G>A	OMIM Allelic Variant:604723.0003	C1864840 610505 Combined oxidative phosphorylation deficiency 3