PedAM
Pediatric Disease Annotations & Medicines
| hairy cell leukemia | ||||
| Disease ID | 224 |
|---|---|
| Disease | hairy cell leukemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:20) HP:0100242 | Sarcoma | 3 HP:0001945 | Fever | 2 HP:0001909 | Leukemia | 2 HP:0001696 | Situs inversus totalis | 1 HP:0000573 | Retinal hemorrhage | 1 HP:0002633 | Vasculitis | 1 HP:0000988 | Exanthem | 1 HP:0002664 | Neoplasia | 1 HP:0002665 | Lymphoma | 1 HP:0001974 | Leukocytosis | 1 HP:0001876 | Low blood cell count | 1 HP:0012312 | Low blood monocyte number | 1 HP:0002090 | Pneumonia | 1 HP:0001541 | Ascites | 1 HP:0005506 | Chronic myeloid leukemia | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0002960 | Autoimmune condition | 1 HP:0005550 | Chronic lymphatic leukemia | 1 HP:0012324 | Myeloid leukemia | 1 HP:0100806 | Sepsis | 1 |
| Disease ID | 224 |
|---|---|
| Disease | hairy cell leukemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:62) C2707258 | infections C2364133 | infection C2355575 | bone marrow fibrosis C1963274 | vasculitis C1962974 | chylothorax C1704231 | leukemic meningitis C1556354 | constitutional symptoms C1555769 | pulmonary disease C1421374 | porphyria cutanea tarda C1373218 | immunosuppression C1318520 | necrotising vasculitis C1304413 | paraneoplastic vasculitis C1264047 | abdominal lymphadenopathy C1142578 | bilateral pneumonia C0854467 | myelosuppression C0796095 | c syndrome C0746883 | neutropenic fever C0694566 | disseminated atypical mycobacterial infection C0432408 | trisomy 12 C0263325 | transient acantholytic dermatosis C0238051 | cerebral vasculitis C0206695 | neuroendocrine carcinoma C0162557 | acute liver failure C0162323 | polyarthritis C0151436 | leukocytoclastic vasculitis C0149678 | epstein-barr virus infections C0149678 | epstein-barr virus infection C0085077 | sweet's syndrome C0079744 | diffuse large cell lymphoma C0079731 | b-cell lymphoma C0042384 | vasculitides C0042384 | angiitis C0041326 | pleural tuberculosis C0040034 | thrombocytopenia C0038013 | ankylosing spondylitis C0037284 | skin lesions C0037140 | b virus infection C0036920 | sezary syndrome C0036572 | seizures C0036220 | kaposi's sarcoma C0036117 | salmonella infection C0031036 | polyarteritis nodosa C0030489 | paraproteinemia C0030312 | pancytopenia C0029464 | osteosclerosis C0027947 | neutropenia C0027627 | secondary malignancies C0026919 | atypical mycobacterial infection C0026916 | mycobacterium avium-intracellulare infection C0025289 | meningitis C0025202 | malignant melanoma C0024899 | mast cell hyperplasia C0023241 | legionnaires' disease C0023241 | legionella pneumophila infection C0023240 | legionella infection C0019829 | hodgkin's disease C0019655 | histoplasmosis C0018802 | congestive cardiac failure C0009324 | ulcerative colitis C0007114 | skin cancers C0002896 | sideroblastic anemia C0002880 | autoimmune hemolytic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0042384 | vasculitides | 1 C0009450 | infection | 1 C0042384 | vasculitis | 1 C0030312 | pancytopenia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:32) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 25700421 | 673 | BRAF | umls:C0023443 | BeFree | In this issue of Blood, Pettirossi et al, including Drs Tiacci and Falini, who led the effort in 2011 defining the BRAF-V600E driving mutation in hairy cell leukemia (HCL),provide extensive laboratory studies showing that inhibitors of BRAF-V600E and/or mitogen-activated protein kinase kinase (MEK) reach their targets and cause HCL cell death | 0.131672 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26145173 | 3155 | HMGCL | umls:C0023443 | BeFree | HMGCL expression is upregulated in BRAF V600E-expressing human primary melanoma and hairy cell leukemia cells. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24652320 | 673 | BRAF | umls:C0023443 | BeFree | Advanced molecular techniques have identified distinct molecular aberrations in the Raf/MEK-ERK pathway and BRAF (V600E) mutations that drive the proliferation and survival of HCL B cells. | 0.131672 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22531170 | 673 | BRAF | umls:C0023443 | BeFree | Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25511147 | 673 | BRAF | umls:C0023443 | BeFree | Evaluation of allele-specific PCR and immunohistochemistry for the detection of BRAF V600E mutations in hairy cell leukemia. | 0.131672 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24652320 | 5594 | MAPK1 | umls:C0023443 | BeFree | Advanced molecular techniques have identified distinct molecular aberrations in the Raf/MEK-ERK pathway and BRAF (V600E) mutations that drive the proliferation and survival of HCL B cells. | 0.001085767 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22246856 | 673 | BRAF | umls:C0023443 | BeFree | Real-time PCR-based analysis of BRAF V600E mutation in low and intermediate grade lymphomas confirms frequent occurrence in hairy cell leukaemia. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22369373 | 673 | BRAF | umls:C0023443 | BeFree | The high prevalence of BRAF(V600E) activating mutation in papillary thyroid carcinoma, cutaneous malignant melanoma and hairy cell leukemia implies that the mutation is an important 'driver' or 'codriver' in the development of a subset of these cancers. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26145173 | 673 | BRAF | umls:C0023443 | BeFree | HMGCL expression is upregulated in BRAF V600E-expressing human primary melanoma and hairy cell leukemia cells. | 0.131672 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24689848 | 673 | BRAF | umls:C0023443 | BeFree | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. | 0.131672 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24652320 | 2048 | EPHB2 | umls:C0023443 | BeFree | Advanced molecular techniques have identified distinct molecular aberrations in the Raf/MEK-ERK pathway and BRAF (V600E) mutations that drive the proliferation and survival of HCL B cells. | 0.001085767 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25034364 | 5894 | RAF1 | umls:C0023443 | BeFree | RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. | 0.000814326 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25034364 | 22882 | ZHX2 | umls:C0023443 | BeFree | RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. | 0.000814326 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23211289 | 673 | BRAF | umls:C0023443 | BeFree | We conclude that the presence of pERK as detected by immunohistochemical staining is a useful surrogate marker for BRAF V600E in the diagnosis of HCL. | 0.131672 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25034364 | 673 | BRAF | umls:C0023443 | BeFree | We investigated BRAF mutations in 36 subjects with different forms of SM, but could not detect BRAF mutation in any of the cases, not even in the mast cell lineage of a patient with V600E BRAF-positive HCL. | 0.131672 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22313586 | 673 | BRAF | umls:C0023443 | BeFree | Correlation of the BRAF V600E mutation in hairy cell leukaemia with morphology, cytochemistry and immunophenotype. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26071465 | 673 | BRAF | umls:C0023443 | BeFree | Immunohistochemistry for BRAF V600E in the Differential Diagnosis of Hairy Cell Leukemia vs Other Splenic B-Cell Lymphomas. | 0.131672 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22072557 | 673 | BRAF | umls:C0023443 | BeFree | The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24789721 | 673 | BRAF | umls:C0023443 | BeFree | Discovery of the BRAF V600E mutation as a disease-defining genetic event in hairy cell leukemia can be helpful in both differential diagnosis and treatment of this disease. | 0.131672 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25511150 | 673 | BRAF | umls:C0023443 | BeFree | The utility of BRAF V600E mutation-specific antibody VE1 for the diagnosis of hairy cell leukemia. | 0.131672 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23892906 | 673 | BRAF | umls:C0023443 | BeFree | The thymidine kinase inhibitor vemurafenib, which inhibits the V600E mutant of BRAF, was reported to induce a CR in multiply relapsed and refractory HCL, with nearly complete clearing of MRD. | 0.131672 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22210875 | 28395 | IGHV4-34 | umls:C0023443 | BeFree | Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24994538 | 673 | BRAF | umls:C0023443 | BeFree | In 2011, the V600E mutation of the BRAF gene in exon 15 was identified in HCL; being present in HCL, it is absent in the variant form of HCL (HCL-v) and in splenic red pulp lymphoma (SRPL), two entities related to HCL. | 0.131672 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22212971 | 673 | BRAF | umls:C0023443 | BeFree | Recently, the BRAF V600E mutation was uniformly identified in one HCL series, which may provide insights into the pathogenic mechanisms. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24652320 | 5609 | MAP2K7 | umls:C0023443 | BeFree | Advanced molecular techniques have identified distinct molecular aberrations in the Raf/MEK-ERK pathway and BRAF (V600E) mutations that drive the proliferation and survival of HCL B cells. | 0.001085767 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23349307 | 673 | BRAF | umls:C0023443 | BeFree | Besides confirming the constant presence of BRAF-V600E in all patients with hairy cell leukemia, we observed ubiquitous phospho-ERK expression in this malignancy. | 0.131672 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22210875 | 673 | BRAF | umls:C0023443 | BeFree | Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25120816 | 673 | BRAF | umls:C0023443 | BeFree | Immunohistochemical analysis using a BRAF V600E mutation specific antibody is highly sensitive and specific for the diagnosis of hairy cell leukemia. | 0.131672 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22028477 | 673 | BRAF | umls:C0023443 | BeFree | BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. | 0.131672 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24433452 | 673 | BRAF | umls:C0023443 | BeFree | We therefore suggest screening of BRAF V600E-negative HCL for alternative exon 11 mutations in the diagnostic setting. | 0.131672 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs371896760 | 24689848 | 673 | BRAF | umls:C0023443 | BeFree | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. | 0.131672 | 2014 | ACAA1;MYD88 | 3 | 38138714 | G | T |
| rs387907272 | 24689848 | 673 | BRAF | umls:C0023443 | BeFree | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. | 0.131672 | 2014 | MYD88 | 3 | 38141150 | 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:3) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0023443 | azacitidine | D001374 | 320-67-2 | leukemia, hairy cell | MESH:D007943 | marker/mechanism | 6209028 | ||
| C0023443 | cladribine | D017338 | 4291-63-8 | leukemia, hairy cell | MESH:D007943 | therapeutic | 10792402 | ||
| C0023443 | pentostatin | D015649 | 53910-25-1 | leukemia, hairy cell | MESH:D007943 | therapeutic | 14733874 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |