eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| myeloperoxidase deficiency | ||||
| Disease ID | 955 |
|---|---|
| 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 | |
| OMIM | |
| UMLS | C0398595 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0024437 | macular degeneration | 4 C0024437 | age-related macular degeneration | 4 C0024441 | macular hole | 1 C0271084 | exudative age-related macular degeneration | 1 C0028754 | obesity | 1 C0024441 | macular holes | 1 C0011847 | diabetes | 1 C0017601 | glaucoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) MPO | 17q22 |
| Disease ID | 955 |
|---|---|
| Disease | myeloperoxidase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0001939 | Laboratory abnormality HP:0001871 | Abnormality of blood and blood-forming tissues HP:0002715 | Abnormality of the immune system |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0007868 | ARMD | 5 HP:0000608 | Macular degeneration | 4 HP:0000501 | Glaucoma | 1 HP:0001513 | Obesity | 1 HP:0011508 | Macular hole | 1 |
| Disease ID | 955 |
|---|---|
| Disease | myeloperoxidase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002715 | Abnormality of the immune system | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0001871 | Abnormality of blood and blood-forming tissues | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002715 | Abnormality of the immune system | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0001871 | Abnormality of blood and blood-forming tissues | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| Disease ID | 955 |
|---|---|
| Disease | myeloperoxidase deficiency |
| Case | (Waiting for update.) |