eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| indolent systemic mastocytosis | ||||
| Disease ID | 615 |
|---|---|
| Disease | indolent systemic mastocytosis |
| Definition | A form of systemic mastocytosis in which patients experience no pain. It is characterized by the multifocal mast cell filtrates, mostly in skin and bone marrow (<20% MAST CELLS). It has a low cytomorphological grade. |
| Synonym | indolent systemic mastocytoses indolent systemic mastocytosis (disorder) indolent systemic mastocytosis (morphologic abnormality) ism mastocytoses, indolent systemic mastocytosis, indolent systemic systemic mastocytoses, indolent systemic mastocytosis, indolent |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0272203 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 171023 | ASXL1 | 1.728 | DISEASES 538 | ATP7A | 1.286 | DISEASES 728 | C5AR1 | 1.933 | DISEASES 914 | CD2 | 3.058 | DISEASES 923 | CD6 | 1.253 | DISEASES 1438 | CSF2RA | 2.384 | DISEASES 22943 | DKK1 | 1.307 | DISEASES 8813 | DPM1 | 1.796 | DISEASES 23644 | EDC4 | 2.849 | DISEASES 81608 | FIP1L1 | 1.782 | DISEASES 2668 | GDNF | 1.065 | DISEASES 101927624 | LINC01150 | 3.702 | DISEASES 4067 | LYN | 1.537 | DISEASES 9788 | MTSS1 | 3.954 | DISEASES 6319 | SCD | 1.511 | DISEASES 6693 | SPN | 2.267 | DISEASES 6427 | SRSF2 | 1.943 | DISEASES 54790 | TET2 | 1.672 | DISEASES 5212 | VIT | 2.895 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 615 |
|---|---|
| Disease | indolent systemic mastocytosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0010829 | Impaired temperature sensation HP:0001025 | Urticaria HP:0000708 | Behavioral abnormality HP:0001645 | Sudden cardiac death HP:0002014 | Diarrhea HP:0002027 | Abdominal pain HP:0002017 | Nausea and vomiting HP:0000989 | Pruritus HP:0001000 | Abnormality of skin pigmentation HP:0004349 | Reduced bone mineral density HP:0100495 | Mastocytosis HP:0002315 | Headache HP:0004295 | Abnormality of the gastric mucosa |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 615 |
|---|---|
| Disease | indolent systemic mastocytosis |
| Manually Symptom | (Waiting for update.) |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913507 | 23621866 | 3815 | KIT | umls:C0272203 | BeFree | Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. | 0.001628651 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23587333 | 3815 | KIT | umls:C0272203 | BeFree | KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. | 0.001628651 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 18390729 | 3815 | KIT | umls:C0272203 | BeFree | Based on all these results, it is hypothesized that KIT D816V as a single hit may be sufficient to cause indolent systemic mastocytosis, whereas additional defects may be required to induce aggressive mast cell disorders. | 0.001628651 | 2008 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22469616 | 3815 | KIT | umls:C0272203 | BeFree | Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. | 0.001628651 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25582384 | 3815 | KIT | umls:C0272203 | BeFree | The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. | 0.001628651 | 2014 | KIT | 4 | 54733155 | A | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010829 | Impaired temperature sensation | MP:0005535 | abnormal body temperature | deviation in the level of heat natural to a living being |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010829 | Impaired temperature sensation | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100495 | Mastocytosis | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 615 |
|---|---|
| Disease | indolent systemic mastocytosis |
| Case | (Waiting for update.) |