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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Hepatic Encephalopathy (D006501)
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..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
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..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)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..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)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..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)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..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)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..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, CTD

Term ID:

2527

Name:

Combined Oxidative Phosphorylation Deficiency 1

Definition:

Alternative IDs:

OMIM:609060

ParentIDs:

MESH:D006501|MESH:D008661

TreeNumbers:

C06.552.308.500.356/C563797 |C10.228.140.163.360/C563797 |C16.320.565/C563797 |C18.452.132.360/C563797 |C18.452.648/C563797

Synonyms:

COXPD1 |Hepatoencephalopathy, Early Fatal Progressive

Slim Mappings:

Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C563797
MeSH: C563797
OMIM: 609060;

Genes: GFM1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0006799	Basal ganglia cysts
4	HP:0001396	Cholestasis
5	HP:0012448	Delayed myelination
6	HP:0011968	Feeding difficulties
7	HP:0004448	Fulminant hepatic failure
8	HP:0002283	Global brain atrophy
9	HP:0002240	Hepatomegaly
10	HP:0001347	Hyperreflexia
11	HP:0002375	Hypokinesia
12	HP:0002079	Hypoplasia of the corpus callosum
13	HP:0002490	Increased CSF lactate
14	HP:0002151	Increased serum lactate
15	HP:0001511	Intrauterine growth retardation
16	HP:0001942	Metabolic acidosis
17	HP:0000252	Microcephaly
18	HP:0001270	Motor delay
19	HP:0008936	Muscular hypotonia of the trunk
20	HP:0000639	Nystagmus
21	HP:0000817	Poor eye contact
22	HP:0001250	Seizure
23	HP:0001257	Spasticity

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_024996.5(GFM1):c.139C>T (p.Arg47Ter)	85476	GFM1	Pathogenic	119470019	RCV000004378;	N	MedGen:C1836797,OMIM:609060,ORPHA:137681	3	158363475	158363475	NM_024996.5:c.139C>T	NP_079272.4:p.Arg47Ter	NC_000003.11:g.158363475C>T	OMIM Allelic Variant:606639.0002	C1836797 609060 Combined oxidative phosphorylation deficiency 1
NM_024996.5(GFM1):c.521A>G (p.Asn174Ser)	85476	GFM1	Pathogenic	119470018	RCV000004377;	N	MedGen:C1836797,OMIM:609060,ORPHA:137681	3	158364685	158364685	NM_024996.5:c.521A>G	NP_079272.4:p.Asn174Ser	NC_000003.11:g.158364685A>G	OMIM Allelic Variant:606639.0001	C1836797 609060 Combined oxidative phosphorylation deficiency 1
NM_024996.5(GFM1):c.748C>T (p.Arg250Trp)	85476	GFM1	Pathogenic	139430866	RCV000023564;	N	MedGen:C1836797,OMIM:609060,ORPHA:137681	3	158369943	158369943	NM_024996.5:c.748C>T	NP_079272.4:p.Arg250Trp	NC_000003.11:g.158369943C>T	OMIM Allelic Variant:606639.0004	C1836797 609060 Combined oxidative phosphorylation deficiency 1
NM_024996.5(GFM1):c.1487T>G (p.Met496Arg)	85476	GFM1	Pathogenic	119470020	RCV000004379;	N	MedGen:C1836797,OMIM:609060,ORPHA:137681	3	158383232	158383232	NM_024996.5:c.1487T>G	NP_079272.4:p.Met496Arg	NC_000003.11:g.158383232T>G	OMIM Allelic Variant:606639.0003	C1836797 609060 Combined oxidative phosphorylation deficiency 1