eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| systemic mastocytosis | ||||
| Disease ID | 446 |
|---|---|
| Disease | systemic mastocytosis |
| Definition | A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis. |
| Synonym | mast cell disease, systemic mast-cell disease, systemic mast-cell diseases, systemic mastocytoses, systemic mastocytosis systemic mastocytosis, systemic mastocytosis, systemic [disease/finding] smcd - systemic mast cell disease systemic mast cell disease systemic mast cell disease (disorder) systemic mast-cell disease systemic mast-cell diseases systemic mastocytoses systemic mastocytosis (disorder) systemic mastocytosis -retired- systemic mastocytosis, nos systemic tissue mast cell disease systemic urticaria pigmentosa |
| Orphanet | |
| DOID | |
| UMLS | C0221013 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:35) C0023470 | myeloid leukemia | 5 C0023467 | acute myeloid leukemia | 5 C0023418 | leukemia | 4 C0023467 | acute myeloid leukaemia | 2 C0598894 | monocytic leukemia | 2 C0023470 | myeloid leukaemia | 2 C0029456 | osteoporosis | 2 C0011991 | diarrhea | 2 C0079731 | b-cell lymphoma | 1 C0023467 | acute myelogenous leukemia | 1 C0023448 | lymphocytic leukemia | 1 C0026764 | multiple myeloma | 1 C0025202 | malignant melanoma | 1 C1531608 | smoldering multiple myeloma | 1 C0035078 | renal failure | 1 C0023470 | myelogenous leukaemia | 1 C0029464 | osteosclerosis | 1 C0235618 | proliferative glomerulonephritis | 1 C0026764 | plasma cell myeloma | 1 C0027022 | myeloid malignancy | 1 C0017152 | gastritis | 1 C0024299 | lymphoma | 1 C0376545 | hematologic neoplasms | 1 C0023418 | leukaemia | 1 C0023470 | myelogenous leukemia | 1 C0040028 | essential thrombocythemia | 1 C0019829 | hodgkin's lymphoma | 1 C0025202 | melanoma | 1 C0023434 | chronic lymphocytic leukemia | 1 C0376545 | hematologic malignancy | 1 C1136084 | plasma cell dyscrasia | 1 C0042111 | urticaria pigmentosa | 1 C0349632 | splenic marginal zone lymphoma | 1 C0020541 | portal hypertension | 1 C0018553 | cowden syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:63) 25 | ABL1 | 2.225 | DISEASES 427 | ASAH1 | 1.426 | DISEASES 438 | ASMT | 1.673 | DISEASES 171023 | ASXL1 | 3.654 | DISEASES 538 | ATP7A | 5.041 | DISEASES 10018 | BCL2L11 | 1.206 | DISEASES 728 | C5AR1 | 2.194 | DISEASES 841 | CASP8 | 1.084 | DISEASES 914 | CD2 | 4.929 | DISEASES 960 | CD44 | 1.11 | DISEASES 921 | CD5 | 1.123 | DISEASES 1043 | CD52 | 1.192 | DISEASES 8218 | CLTCL1 | 2.043 | DISEASES 1378 | CR1 | 1.574 | DISEASES 1438 | CSF2RA | 1.068 | DISEASES 8813 | DPM1 | 3.374 | DISEASES 23644 | EDC4 | 1.533 | DISEASES 5169 | ENPP3 | 2.793 | DISEASES 2120 | ETV6 | 1.951 | DISEASES 2205 | FCER1A | 1.021 | DISEASES 2260 | FGFR1 | 3.433 | DISEASES 81608 | FIP1L1 | 5.309 | DISEASES 2526 | FUT4 | 1.275 | DISEASES 9846 | GAB2 | 1.845 | DISEASES 2520 | GAST | 1.549 | DISEASES 2885 | GRB2 | 1.22 | DISEASES 283120 | H19 | 2.166 | DISEASES 55733 | HHAT | 1.052 | DISEASES 3274 | HRH2 | 1.276 | DISEASES 3440 | IFNA2 | 3.014 | DISEASES 3563 | IL3RA | 1.255 | DISEASES 3717 | JAK2 | 3.478 | DISEASES 80333 | KCNIP4 | 1.929 | DISEASES 101927624 | LINC01150 | 2.386 | DISEASES 55646 | LYAR | 2.469 | DISEASES 4067 | LYN | 2.857 | DISEASES 4170 | MCL1 | 1.305 | DISEASES 150365 | MEI1 | 3.171 | DISEASES 9788 | MTSS1 | 3.028 | DISEASES 4629 | MYH11 | 2.263 | DISEASES 7827 | NPHS2 | 1.722 | DISEASES 5228 | PGF | 1.096 | DISEASES 5236 | PGM1 | 1.749 | DISEASES 5518 | PPP2R1A | 1.44 | DISEASES 5520 | PPP2R2A | 1.692 | DISEASES 5781 | PTPN11 | 1.719 | DISEASES 5788 | PTPRC | 2.146 | DISEASES 862 | RUNX1T1 | 1.348 | DISEASES 5272 | SERPINB9 | 1.299 | DISEASES 23451 | SF3B1 | 2.004 | DISEASES 114789 | SLC25A25 | 2.23 | DISEASES 6609 | SMPD1 | 4.075 | DISEASES 6625 | SNRNP70 | 1.236 | DISEASES 23626 | SPO11 | 2.057 | DISEASES 6714 | SRC | 1.143 | DISEASES 6427 | SRSF2 | 3.86 | DISEASES 6776 | STAT5A | 3.144 | DISEASES 54790 | TET2 | 3.826 | DISEASES 7075 | TIE1 | 1.009 | DISEASES 7204 | TRIO | 1.864 | DISEASES 7409 | VAV1 | 1.597 | DISEASES 5212 | VIT | 3.921 | DISEASES 7750 | ZMYM2 | 1.4 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 446 |
|---|---|
| Disease | systemic mastocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:38) C2678504 | osteoporosis C2240374 | eosinophilia C2096315 | headache C2003861 | flushing C1963091 | diarrhea C1660219 | analgesia C1516669 | clonal evolution C1112570 | paraneoplastic pemphigus C0850803 | anaphylaxis C0836924 | thrombocythaemia C0796232 | c-like syndrome C0748159 | pulmonary involvement C0679407 | gastrointestinal dysfunction C0451641 | urolithiasis C0426576 | gi symptoms C0406352 | tripe palms C0340865 | anaphylactoid reaction C0339317 | noninfectious anterior uveitis C0238792 | bone lesion C0233401 | psychiatric symptoms C0085129 | bronchial hyperresponsiveness C0039070 | syncope C0034065 | pulmonary emboli C0031117 | peripheral neuropathy C0029464 | osteosclerosis C0027726 | nephrotic syndrome C0023470 | myeloid leukaemia C0023467 | acute nonlymphocytic leukemia C0023418 | leukemia C0020541 | portal hypertension C0017531 | castleman's disease C0017178 | gastrointestinal disease C0016045 | fibromas C0013604 | oedema C0013295 | duodenal ulcer C0008372 | intrahepatic cholestasis C0005940 | bone disease C0005779 | coagulation disorders |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:11) C0002792 | anaphylaxis | 4 C0023418 | leukemia | 4 C0023470 | myeloid leukaemia | 2 C0029456 | osteoporosis | 2 C0011991 | diarrhea | 2 C0014457 | eosinophilia | 2 C0426576 | gi symptoms | 1 C0020541 | portal hypertension | 1 C0029464 | osteosclerosis | 1 C0039070 | syncope | 1 C0238792 | bone lesion | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:70) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 25034364 | 673 | BRAF | umls:C0221013 | BeFree | Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25034364 | 3815 | KIT | umls:C0221013 | BeFree | Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | 0.281242809 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121913507 | 22145956 | 10153 | CEBPZ | umls:C0221013 | BeFree | The presence of the KIT D816V mutation in the CBF AML subgroup can therefore not be considered indicative of associated SM. | 0.000271442 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23743299 | 3815 | KIT | umls:C0221013 | BeFree | KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells. | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22051531 | 3815 | KIT | umls:C0221013 | BeFree | An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation in systemic mastocytosis. | 0.281242809 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23388130 | 3815 | KIT | umls:C0221013 | BeFree | The KIT D816V mutation is frequently found in systemic mastocytosis, but it has not been documented in the few reported human MCS cases. | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22051531 | 5788 | PTPRC | umls:C0221013 | BeFree | Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) immature phenotype of BMMC, in the absence of coexisting normal MC in the BM, was associated with multilineage involvement by the D816V KIT mutation, regardless of the diagnostic subtype of the disease (for example, indolent vs aggressive SM), which supports the utility of the immunophenotype of BMMC as a surrogate marker to screen for multilineage KIT mutation in ISM. | 0.000271442 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24552773 | 3815 | KIT | umls:C0221013 | BeFree | Our findings warrant a clinical trial of ponatinib in patients with systemic mastocytosis harboring D816V KIT. | 0.281242809 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25582384 | 3815 | KIT | umls:C0221013 | BeFree | Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene. | 0.281242809 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 26276780 | 3559 | IL2RA | umls:C0221013 | BeFree | Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate clinical suspicion and pathologic evaluation by tryptase and CD25 IHC and KIT D816V mutation analysis. | 0.005981653 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17628645 | 81608 | FIP1L1 | umls:C0221013 | BeFree | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. | 0.005710211 | 2007 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25034364 | 3815 | KIT | umls:C0221013 | BeFree | Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | 0.281242809 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23621866 | 3815 | KIT | umls:C0221013 | BeFree | We recently introduced the D816V+ allele fraction as a disease marker in SM using a sensitive and quantitative KIT D816V mutation analysis that consistently allows mutation detection in peripheral blood (PB) and bone marrow (BM). | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 19893034 | 3815 | KIT | umls:C0221013 | BeFree | Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816V. | 0.281242809 | 2009 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24281161 | 2271 | FH | umls:C0221013 | BeFree | If positive in BM, the KIT D816V mutation was found in PB of all patients with advanced SM (SM-AHNMD, ASM, and MCL) and in 46 % (23/50) of patients with ISM. | 0.000542884 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 16189265 | 3815 | KIT | umls:C0221013 | BeFree | In most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V. | 0.281242809 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 18931652 | 3815 | KIT | umls:C0221013 | BeFree | Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mutation. | 0.281242809 | 2008 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 26276780 | 3815 | KIT | umls:C0221013 | BeFree | Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate clinical suspicion and pathologic evaluation by tryptase and CD25 IHC and KIT D816V mutation analysis. | 0.281242809 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 9827716 | 3815 | KIT | umls:C0221013 | BeFree | The Asp816Val mutation in the catalytic domain of the c-kit receptor has been identified in patients with systemic mastocytosis. | 0.281242809 | 1998 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 12007509 | 3815 | KIT | umls:C0221013 | BeFree | The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. | 0.281242809 | 2002 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24750133 | 3815 | KIT | umls:C0221013 | BeFree | To conclude, the KIT D816V burden correlates with the variant of mastocytosis, predicts survival, and is a valuable follow-up parameter in SM. | 0.281242809 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 21680801 | 3815 | KIT | umls:C0221013 | BeFree | KIT-D816V-independent oncogenic signaling in neoplastic cells in systemic mastocytosis: role of Lyn and Btk activation and disruption by dasatinib and bosutinib. | 0.281242809 | 2011 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23403045 | 3815 | KIT | umls:C0221013 | BeFree | GEP analyses were performed by using DNA-oligonucleotide microarrays in highly purified BMMCs from patients with SM carrying the D816V KIT mutation (n=26) classified according to the diagnostic subtype of SM versus normal/reactive BMMCs (n=7). | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22449623 | 5156 | PDGFRA | umls:C0221013 | BeFree | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions resulting in systemic mastocytosis (SM) and chronic eosinophilic leukemia, respectively. | 0.006524536 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22051531 | 3559 | IL2RA | umls:C0221013 | BeFree | Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) immature phenotype of BMMC, in the absence of coexisting normal MC in the BM, was associated with multilineage involvement by the D816V KIT mutation, regardless of the diagnostic subtype of the disease (for example, indolent vs aggressive SM), which supports the utility of the immunophenotype of BMMC as a surrogate marker to screen for multilineage KIT mutation in ISM. | 0.005981653 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25034364 | 673 | BRAF | umls:C0221013 | BeFree | Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis. | 0.000271442 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22449623 | 3815 | KIT | umls:C0221013 | BeFree | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions resulting in systemic mastocytosis (SM) and chronic eosinophilic leukemia, respectively. | 0.281242809 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24281161 | 338339 | CLEC4D | umls:C0221013 | BeFree | If positive in BM, the KIT D816V mutation was found in PB of all patients with advanced SM (SM-AHNMD, ASM, and MCL) and in 46 % (23/50) of patients with ISM. | 0.000542884 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22145956 | 3815 | KIT | umls:C0221013 | BeFree | Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid leukemia. | 0.281242809 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 18165278 | 4597 | MVD | umls:C0221013 | BeFree | Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V. | 0.000542884 | 2008 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 19193436 | 3815 | KIT | umls:C0221013 | BeFree | Six other patients reported symptomatic improvement, including two with D816V KIT mutation-positive SM (one reported improvement in diarrhea and the other in fatigue). | 0.281242809 | 2009 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17628645 | 3815 | KIT | umls:C0221013 | BeFree | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. | 0.281242809 | 2007 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 21134978 | 3815 | KIT | umls:C0221013 | BeFree | Cooperating genetic events are likely to contribute to the phenotypic diversity of KIT-D816V systemic mastocytosis. | 0.281242809 | 2011 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 18024392 | 3815 | KIT | umls:C0221013 | BeFree | In a majority of all patients with systemic mastocytosis (SM) including those with mast cell leukemia (MCL), neoplastic mast cells (MC) display the D816V-mutated variant of KIT. | 0.281242809 | 2007 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3559 | IL2RA | umls:C0221013 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.005981653 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24677542 | 3815 | KIT | umls:C0221013 | BeFree | ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should facilitate the development of novel drugs for treating SM patients. | 0.281242809 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 26017288 | 3815 | KIT | umls:C0221013 | BeFree | To gain better insight into clinical characteristics, we compared these cases with 31 additional and well-characterized KIT D816V+ eosinophilia-associated systemic mastocytosis (SM-eo) patients enrolled within the German Registry on Disorders of Eosinophils and Mast cells. Significant differences included younger age, male predominance, and higher eosinophil counts for FP+ cases while abdominal lymphadenopathy, ascites, and serum tryptase levels >100 μg/l were characteristic for those with KIT D816V. | 0.281242809 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 20616612 | 3815 | KIT | umls:C0221013 | BeFree | Investigation for presence of the activating KIT point mutation D816V is very helpful to establish a correct diagnosis of SM in all the difficult cases exhibiting a low degree of bone marrow infiltration or puzzling morphological findings. | 0.281242809 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17110460 | 3815 | KIT | umls:C0221013 | BeFree | Moreover, MCL-1 was detectable in both subclones of the MC line HMC-1--HMC-1.1 cells, which lack the SM-related KIT mutation D816V, and HMC-1.2 cells, which carry KIT D816V. | 0.281242809 | 2007 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 21457934 | 5008 | OSM | umls:C0221013 | BeFree | Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-positive systemic mastocytosis. | 0.000271442 | 2011 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3669 | ISG20 | umls:C0221013 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.003257302 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 21457934 | 3815 | KIT | umls:C0221013 | BeFree | Identification of oncostatin M as a STAT5-dependent mediator of bone marrow remodeling in KIT D816V-positive systemic mastocytosis. | 0.281242809 | 2011 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 18390729 | 3815 | KIT | umls:C0221013 | BeFree | We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic mastocytosis, induces cluster formation and expression of several mast cell differentiation and adhesion Ags, including microphthalmia transcription factor, IL-4 receptor, histamine, CD63, and ICAM-1 in IL-3-dependent BaF3 cells. | 0.281242809 | 2008 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 26276780 | 3669 | ISG20 | umls:C0221013 | BeFree | Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate clinical suspicion and pathologic evaluation by tryptase and CD25 IHC and KIT D816V mutation analysis. | 0.003257302 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25567135 | 3815 | KIT | umls:C0221013 | BeFree | Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event. | 0.281242809 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25088577 | 3815 | KIT | umls:C0221013 | BeFree | D816V KIT mutation, found in ∼80% of SM, is resistant to the currently available tyrosine kinase inhibitors (TKIs) (e.g. | 0.281242809 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17040960 | 3815 | KIT | umls:C0221013 | BeFree | These findings demonstrate that the ACB-PCR assay combined with ESMA is a rapid and highly sensitive approach for detection of KIT D816V in SM patients. | 0.281242809 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 20038218 | 3815 | KIT | umls:C0221013 | BeFree | KIT D816V mutation has been observed in more than 90% of patients with systemic mastocytosis (SM). | 0.281242809 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 20471335 | 3815 | KIT | umls:C0221013 | BeFree | In summary, our data show that KIT D816V in AML is highly associated with co-existing SM (SM-AML). | 0.281242809 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3815 | KIT | umls:C0221013 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 21354053 | 3815 | KIT | umls:C0221013 | BeFree | Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assay. | 0.281242809 | 2011 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 20685234 | 3815 | KIT | umls:C0221013 | BeFree | INNO-406 was found to inhibit proliferation in HMC-1.1 cells (IC(50): 30-40 nM), but not in HMC-1.2 cells or primary neoplastic cells in patients with KIT D816V-positive SM. | 0.281242809 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 20112369 | 3815 | KIT | umls:C0221013 | BeFree | The high frequency of KIT(D816V) in neoplastic mast cells and leukaemic myelomonocytic cells in SM-CMML may point to a common precursor in these patients, and may have implications for the biology of the disease and the development of KIT-targeting therapies. | 0.281242809 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25650093 | 3815 | KIT | umls:C0221013 | BeFree | Using highly sensitive assays, KIT D816V can be detected in peripheral blood leukocytes from most patients with systemic mastocytosis (SM) that is a major step forward in screening and SM diagnosis. | 0.281242809 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22051531 | 3669 | ISG20 | umls:C0221013 | BeFree | Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) immature phenotype of BMMC, in the absence of coexisting normal MC in the BM, was associated with multilineage involvement by the D816V KIT mutation, regardless of the diagnostic subtype of the disease (for example, indolent vs aggressive SM), which supports the utility of the immunophenotype of BMMC as a surrogate marker to screen for multilineage KIT mutation in ISM. | 0.003257302 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23958953 | 3815 | KIT | umls:C0221013 | BeFree | To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and to suboptimal responses to diverse therapies, we analyzed 39 KIT D816V mutated patients with indolent SM (n = 10), smoldering SM (n = 2), SM with associated clonal hematologic nonmast cell lineage disorder (SM-AHNMD, n = 5), and aggressive SM (n = 15) or mast cell leukemia (n = 7) with (n = 18) or without (n = 4) AHNMD for additional molecular aberrations. | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24281161 | 3815 | KIT | umls:C0221013 | BeFree | The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 18663058 | 3815 | KIT | umls:C0221013 | BeFree | A case of systemic mastocytosis carrying the characteristic mutation at codon 816 (D816V) in the KIT gene of mast cells, with two concurrent accompanying clonal haematopoietic non-mast cell-lineage disorders, chronic myeloproliferative disease, unclassifiable and precursor B lymphoblastic leukaemia is documented. | 0.281242809 | 2008 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23774045 | 3815 | KIT | umls:C0221013 | BeFree | KIT D816V mutation-positive cell fractions in lesional skin biopsies from adults with systemic mastocytosis. | 0.281242809 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23152053 | 3815 | KIT | umls:C0221013 | BeFree | The majority of patients with systemic mastocytosis exhibit a D816V mutation in the activating loop of the Kit receptor expressed on mast cells. | 0.281242809 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 18986703 | 3815 | KIT | umls:C0221013 | BeFree | Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V. | 0.281242809 | 2009 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 19893034 | 6776 | STAT5A | umls:C0221013 | BeFree | Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816V. | 0.001085767 | 2009 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 19893034 | 6777 | STAT5B | umls:C0221013 | BeFree | Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816V. | 0.001085767 | 2009 | KIT | 4 | 54733155 | A | T |
| rs121913682 | NA | 3815 | KIT | umls:C0221013 | CLINVAR | NA | 0.281242809 | NA | KIT | 4 | 54733167 | A | G |
| rs386626619 | 19175693 | 3815 | KIT | umls:C0221013 | BeFree | It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). | 0.281242809 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C0221013 | BeFree | Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. | 0.00408156 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18165278 | 4597 | MVD | umls:C0221013 | BeFree | Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V. | 0.000542884 | 2008 | NA | NA | NA | NA | NA |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C0221013 | BeFree | Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. | 0.00408156 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18165278 | 4597 | MVD | umls:C0221013 | BeFree | Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK2 mutation V617F and that 15 CIMF patients without SM did not carry the KIT mutation D816V. | 0.000542884 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19175693 | 3815 | KIT | umls:C0221013 | BeFree | It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). | 0.281242809 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | 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:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0010829 | Impaired temperature sensation | MP:0005535 | abnormal body temperature | deviation in the level of heat natural to a living being |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| 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:0001409 | Portal hypertension | MP:0000231 | hypertension | sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states |
| 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: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 |
| HP:0001879 | Abnormality of eosinophils | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0100326 | Immunologic hypersensitivity | MP:0005617 | increased susceptibility to type IV hypersensitivity reaction | greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact |
| HP:0005528 | Bone marrow hypocellularity | MP:0013414 | decreased myeloid cell number in bone marrow | reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| 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:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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 |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005789 | Generalized osteosclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| 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:0001409 | Portal hypertension | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0001879 | Abnormality of eosinophils | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002099 | Asthma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001882 | Leukopenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0100326 | Immunologic hypersensitivity | 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 |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0005528 | Bone marrow hypocellularity | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 446 |
|---|---|
| Disease | systemic mastocytosis |
| Case | (Waiting for update.) |