PedAM

Pediatric Disease Annotations & Medicines


	myeloperoxidase deficiency

Disease ID	872
Disease	myeloperoxidase deficiency
Definition	Myeloperoxidase deficiency is an autosomal recessive genetic disorder featuring deficiency, either in quantity or of function, of myeloperoxidase, an enzyme found in certain phagocytic immune cells, especially polymorphonuclear leukocytes. - Wikipedia Reference: https://en.wikipedia.org/wiki/myeloperoxidase deficiency
Synonym	mpo - myeloperoxidase deficiency mpo deficiency mpod myeloperoxidase deficiency (disorder) myeloperoxidase deficiency syndrome myeloperoxidase deficiency syndrome (disorder)
Orphanet	ORPHANET:2587
OMIM	OMIM:254600
UMLS	C0398595
SNOMED-CT	SNOMEDCT_US_2016_09_01:234433009;SNOMEDCT_US_2016_09_01:129644003
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) MPO \| 4353 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) MPO \| 17q22

Disease ID	872
Disease	myeloperoxidase deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0002715 \| Abnormality of the immune system HP:0001939 \| Laboratory abnormality HP:0001871 \| Abnormality of blood and blood-forming tissues
Text Mined Phenotype	(Waiting for update.)

Disease ID	872
Disease	myeloperoxidase deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0949091 \| candida sepsis C0221023 \| cyclic neutropenia C0152081 \| pustular psoriasis C0026946 \| fungal infection
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs119468010	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58272835	G	A
rs119469012	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58272825	A	C
rs119469013	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58273534	C	T
rs119469014	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58273540	G	A
rs28730837	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58278036	G	A
rs35897051	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58270865	T	G
rs536522394	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58273467	GGGTTGGGTTCCAT	-
rs56378716	9354683	4353	MPO	umls:C0398595	UNIPROT	Hereditary myeloperoxidase (MPO) deficiency is a neutrophil disorder characterized by the lack of peroxidase activity.	0.561357209	1997	MPO	17	58279141	A	G
rs56378716	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58279141	A	G
rs78950939	NA	4353	MPO	umls:C0398595	CLINVAR	NA	0.561357209	NA	MPO	17	58279553	T	C
rs78950939	9637725	4353	MPO	umls:C0398595	UNIPROT	We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins.	0.561357209	1998	MPO	17	58279553	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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