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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

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

Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Myeloperoxidase Deficiency (C562864)
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:

7622

Name:

Myeloperoxidase Deficiency

Definition:

Alternative IDs:

OMIM:254600

ParentIDs:

MESH:D008661

TreeNumbers:

C16.320.565/C562864 |C18.452.648/C562864

Synonyms:

MPOD |MPO Deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C562864
MeSH: C562864
OMIM: 254600;

Genes: MPO;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0002715	Abnormality of the immune system

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_000250.1(MPO):c.2031-2A>C	4353	MPO	Pathogenic	35897051	RCV000003816;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56348226	56348226	NM_000250.1:c.2031-2A>C		NC_000017.10:g.56348226T>G	OMIM Allelic Variant:606989.0007	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.1715T>G (p.Leu572Trp)	4353	MPO	Pathogenic	119469012	RCV000003815;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56350186	56350186	NM_000250.1:c.1715T>G	NP_000241.1:p.Leu572Trp	NC_000017.10:g.56350186A>C	OMIM Allelic Variant:606989.0006	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.1705C>T (p.Arg569Trp)	4353	MPO	Pathogenic	119468010	RCV000003810;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56350196	56350196	NM_000250.1:c.1705C>T	NP_000241.1:p.Arg569Trp	NC_000017.10:g.56350196G>A	OMIM Allelic Variant:606989.0001	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.1555_1568delATGGAACCCAACCC (p.Met519Profs)	4353	MPO	Pathogenic	536522394	RCV000003813;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56350828	56350841	NM_000250.1:c.1555_1568delATGGAACCCAACCC	NP_000241.1:p.Met519Profs	NC_000017.10:g.56350828_56350841delGGGTTGGGTTCCAT	OMIM Allelic Variant:606989.0004	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.1501G>A (p.Gly501Ser)	4353	MPO	Pathogenic	119469013	RCV000003819;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56350895	56350895	NM_000250.1:c.1501G>A	NP_000241.1:p.Gly501Ser	NC_000017.10:g.56350895C>T	OMIM Allelic Variant:606989.0009	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.1495C>T (p.Arg499Cys)	4353	MPO	Pathogenic	119469014	RCV000003820;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56350901	56350901	NM_000250.1:c.1495C>T	NP_000241.1:p.Arg499Cys	NC_000017.10:g.56350901G>A	OMIM Allelic Variant:606989.0010	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.995C>T (p.Ala332Val)	4353	MPO	Pathogenic	28730837	RCV000003814;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56355397	56355397	NM_000250.1:c.995C>T	NP_000241.1:p.Ala332Val	NC_000017.10:g.56355397G>A	OMIM Allelic Variant:606989.0005	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.752T>C (p.Met251Thr)	4353	MPO	Pathogenic	56378716	RCV000003812;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56356502	56356502	NM_000250.1:c.752T>C	NP_000241.1:p.Met251Thr	NC_000017.10:g.56356502A>G	OMIM Allelic Variant:606989.0003	C0398595 254600 Myeloperoxidase deficiency
NM_000250.1(MPO):c.518A>G (p.Tyr173Cys)	4353	MPO	Pathogenic	78950939	RCV000003811;	N	MedGen:C0398595,OMIM:254600,ORPHA:2587,SNOMED CT:129644003,SNOMED CT:234433009	17	56356914	56356914	NM_000250.1:c.518A>G	NP_000241.1:p.Tyr173Cys	NC_000017.10:g.56356914T>C	OMIM Allelic Variant:606989.0002	C0398595 254600 Myeloperoxidase deficiency