MCID: MYL013
MIFTS: 29

Myeloperoxidase Deficiency malady

Blood diseases category

Summaries for Myeloperoxidase Deficiency

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Myeloperoxidase deficiency is a common genetic disorder featuring deficiency, either in quantity or of... more...

MalaCards: Myeloperoxidase Deficiency, also known as mpo deficiency, is related to psoriasis and leukemia. An important gene associated with Myeloperoxidase Deficiency is MPO (myeloperoxidase), and among its related pathways is Selenium Pathway. The compounds methimazole and dextran sulfate have been mentioned in the context of this disorder.

Description from OMIM:46 254600

Aliases & Classifications for Myeloperoxidase Deficiency

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 44Novoseek, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

myeloperoxidase deficiency 42 22 46 48
mpo deficiency 42 44 48
myeloperoxidase deficiency syndrome 60


External Ids:

OMIM46 254600
ICD10 via Orphanet26 E80.3
SNOMED-CT via Orphanet57 129644003, 234433009
UMLS via Orphanet61 C0398595

Related Diseases for Myeloperoxidase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Myeloperoxidase Deficiency:



Diseases related to myeloperoxidase deficiency

Clinical Features for Myeloperoxidase Deficiency

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46OMIM
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Clinical features from OMIM:

254600

Clinical synopsis from OMIM:

254600

Drugs & Therapeutics for Myeloperoxidase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Myeloperoxidase Deficiency

Drug clinical trials:

Search ClinicalTrials for Myeloperoxidase Deficiency

Search NIH Clinical Center for Myeloperoxidase Deficiency

Search CenterWatch for Myeloperoxidase Deficiency

Genetic Tests for Myeloperoxidase Deficiency

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22GTR
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Genetic tests related to Myeloperoxidase Deficiency:

id Genetic test Affiliating Genes
1 Myeloperoxidase Deficiency22

Anatomical Context for Myeloperoxidase Deficiency

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Animal Models for Myeloperoxidase Deficiency or affiliated genes

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Publications for Myeloperoxidase Deficiency

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Genetic Variations for Myeloperoxidase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Myeloperoxidase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1MPOp.Tyr173CysVAR_015377rs78950939
2MPOp.Met251ThrVAR_015378rs56378716
3MPOp.Arg569TrpVAR_015379

Expression for genes affiliated with Myeloperoxidase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myeloperoxidase Deficiency

Search GEO for disease gene expression data for Myeloperoxidase Deficiency.

Pathways for genes affiliated with Myeloperoxidase Deficiency

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Sources:
37NCBI BioSystems Database
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Pathways related to Myeloperoxidase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LDLR, MPO

Compounds for genes affiliated with Myeloperoxidase Deficiency

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Sources:
44Novoseek, 2BitterDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Myeloperoxidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1methimazole44 2 1111.4LDLR, MPO
2dextran sulfate449.3LDLR, MPO
3propranolol44 28 49 11 2413.3MPO, LDLR
4chloramphenicol44 2 1111.3LDLR, MPO
5ascorbic acid44 2410.2LDLR, MPO
6indomethacin44 59 28 1112.2MPO, LDLR
7acetylcholine44 49 28 11 2413.1LDLR, MPO
8h2o2449.1LDLR, MPO
9pge2449.0LDLR, MPO
10heparin44 28 11 2411.8LDLR, MPO

GO Terms for genes affiliated with Myeloperoxidase Deficiency

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16Gene Ontology
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Cellular components related to Myeloperoxidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1LDLR, MPO

Products for genes affiliated with Myeloperoxidase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myeloperoxidase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet