eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	hairy cell leukemia

Disease ID	528
Disease	hairy cell leukemia
Definition	A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of "hairy" or "flagellated" cells in the blood and bone marrow.
Synonym	[m]hairy cell leukaemia [m]hairy cell leukemia [m]leukaemic reticuloendotheliosis [m]leukaemic reticuloendotheliosis (disorder) [m]leukemic reticuloendotheliosis cell hairy leukemia cells hairy leukemia hairy cell leukaemia hairy cell leukaemia (clinical) hairy cell leukemia (clinical) hairy cell leukemia (disorder) hairy cell leukemia (morphologic abnormality) hairy cell leukemias hairy t cell leukemia hairy-cell leukaemia hairy-cell leukemia hcl - hairy cell leukaemia hcl - hairy cell leukemia leukaemia hairy cell leukaemic reticuloendotheliosis leukaemic reticuloendotheliosis (clinical) [obs] leukaemic reticuloendotheliosis -retired- leukaemic reticuloendotheliosis nos leukaemic reticuloendotheliosis of unspecified sites leukemia hairy cell leukemia, hairy cell leukemia, hairy cell [disease/finding] leukemias, hairy cell leukemic reticuloendothelioses leukemic reticuloendotheliosis leukemic reticuloendotheliosis (clinical) [obs] leukemic reticuloendotheliosis (morphologic abnormality) leukemic reticuloendotheliosis -retired- leukemic reticuloendotheliosis nos leukemic reticuloendotheliosis nos (disorder) leukemic reticuloendotheliosis of unspecified sites leukemic reticuloendotheliosis of unspecified sites (disorder) lre - leukaemic reticuloendotheliosis lre - leukemic reticuloendotheliosis reticuloendothelioses, leukemic reticuloendotheliosis, leukemic
Orphanet	ORPHANET:58017
DOID	DOID:285
UMLS	C0023443
MeSH	D007943
SNOMED-CT	SNOMEDCT_US_2016_09_01:118613001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:27) C1261473 \| sarcoma \| 3 C0023418 \| leukemia \| 2 C0023448 \| lymphocytic leukemia \| 2 C0376545 \| hematologic malignancies \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0349632 \| splenic marginal zone lymphoma \| 1 C0023470 \| myeloid leukemia \| 1 C0032285 \| pneumonia \| 1 C0036202 \| sarcoidosis \| 1 C0022658 \| nephropathy \| 1 C0021053 \| immune disorders \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0021053 \| immune disorder \| 1 C0015230 \| rash \| 1 C0025309 \| meningoencephalitis \| 1 C0006142 \| breast cancer \| 1 C1522378 \| large granular lymphocytic leukemia \| 1 C0004943 \| behcet's disease \| 1 C0019061 \| haemolytic uraemic syndrome \| 1 C0024299 \| lymphoma \| 1 C0042384 \| vasculitis \| 1 C0030312 \| pancytopenia \| 1 C0153687 \| skin metastasis \| 1 C0027947 \| neutropenia \| 1 C0018190 \| donovanosis \| 1 C0038034 \| sporotrichosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 673 \| BRAF \| ORPHANET 5604 \| MAP2K1 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:84) 55 \| ACPP \| 2.175 \| DISEASES 100 \| ADA \| 2.554 \| DISEASES 238 \| ALK \| 1.134 \| DISEASES 567 \| B2M \| 1.978 \| DISEASES 23066 \| CAND2 \| 1.087 \| DISEASES 8573 \| CASK \| 1.109 \| DISEASES 930 \| CD19 \| 4.727 \| DISEASES 914 \| CD2 \| 2.973 \| DISEASES 4345 \| CD200 \| 3.565 \| DISEASES 50489 \| CD207 \| 1.401 \| DISEASES 951 \| CD37 \| 2.478 \| DISEASES 958 \| CD40 \| 2.309 \| DISEASES 959 \| CD40LG \| 3.308 \| DISEASES 960 \| CD44 \| 1.502 \| DISEASES 921 \| CD5 \| 5.046 \| DISEASES 1043 \| CD52 \| 2.81 \| DISEASES 974 \| CD79B \| 2.265 \| DISEASES 978 \| CDA \| 4.747 \| DISEASES 1272 \| CNTN1 \| 1.148 \| DISEASES 1380 \| CR2 \| 2.912 \| DISEASES 1447 \| CSN2 \| 1.433 \| DISEASES 79947 \| DHDDS \| 1.179 \| DISEASES 1758 \| DMP1 \| 1.615 \| DISEASES 120526 \| DNAJC24 \| 2.477 \| DISEASES 1791 \| DNTT \| 1.495 \| DISEASES 51611 \| DPH5 \| 2.678 \| DISEASES 2045 \| EPHA7 \| 1.084 \| DISEASES 30816 \| ERVW-1 \| 1.963 \| DISEASES 2214 \| FCGR3A \| 1.557 \| DISEASES 115350 \| FCRL1 \| 2.322 \| DISEASES 83416 \| FCRL5 \| 3.626 \| DISEASES 84824 \| FCRLA \| 2.631 \| DISEASES 2335 \| FN1 \| 2.366 \| DISEASES 2526 \| FUT4 \| 2.21 \| DISEASES 53827 \| FXYD5 \| 1.323 \| DISEASES 23464 \| GCAT \| 1.603 \| DISEASES 11245 \| GPR176 \| 1.521 \| DISEASES 3161 \| HMMR \| 1.525 \| DISEASES 3384 \| ICAM2 \| 1.622 \| DISEASES 3446 \| IFNA10 \| 3.414 \| DISEASES 3451 \| IFNA17 \| 2.56 \| DISEASES 3440 \| IFNA2 \| 4.38 \| DISEASES 3456 \| IFNB1 \| 2.252 \| DISEASES 100423062 \| IGLL5 \| 1.538 \| DISEASES 112744 \| IL17F \| 1.537 \| DISEASES 3559 \| IL2RA \| 3.639 \| DISEASES 3561 \| IL2RG \| 1.641 \| DISEASES 3563 \| IL3RA \| 3.842 \| DISEASES 27152 \| INTU \| 1.963 \| DISEASES 79711 \| IPO4 \| 3.964 \| DISEASES 10379 \| IRF9 \| 1.071 \| DISEASES 3676 \| ITGA4 \| 2.021 \| DISEASES 3683 \| ITGAL \| 2.424 \| DISEASES 3684 \| ITGAM \| 1.763 \| DISEASES 83700 \| JAM3 \| 1.206 \| DISEASES 11127 \| KIF3A \| 1.145 \| DISEASES 3903 \| LAIR1 \| 2.369 \| DISEASES 3909 \| LAMA3 \| 1.528 \| DISEASES 4049 \| LTA \| 1.64 \| DISEASES 5609 \| MAP2K7 \| 2.665 \| DISEASES 4311 \| MME \| 4.082 \| DISEASES 4332 \| MNDA \| 1.444 \| DISEASES 10232 \| MSLN \| 1.495 \| DISEASES 4609 \| MYC \| 1.713 \| DISEASES 4615 \| MYD88 \| 2.075 \| DISEASES 79400 \| NOX5 \| 1.144 \| DISEASES 26471 \| NUPR1 \| 1.054 \| DISEASES 4942 \| OAT \| 1.21 \| DISEASES 64065 \| PERP \| 1.056 \| DISEASES 4860 \| PNP \| 1.723 \| DISEASES 100169750 \| PRINS \| 1.403 \| DISEASES 5788 \| PTPRC \| 3.373 \| DISEASES 399 \| RHOH \| 2.282 \| DISEASES 6016 \| RIT1 \| 2.411 \| DISEASES 26168 \| SENP3 \| 1.865 \| DISEASES 91137 \| SLC25A46 \| 1.015 \| DISEASES 347734 \| SLC35B2 \| 2.118 \| DISEASES 6664 \| SOX11 \| 2.695 \| DISEASES 6693 \| SPN \| 1.237 \| DISEASES 8871 \| SYNJ2 \| 2.275 \| DISEASES 8115 \| TCL1A \| 1.29 \| DISEASES 54790 \| TET2 \| 1.385 \| DISEASES 7037 \| TFRC \| 1.411 \| DISEASES 7124 \| TNF \| 2.458 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) BRAF \| 7q34

Disease ID	528
Disease	hairy cell leukemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:23) HP:0100242 \| Sarcoma \| 3 HP:0001909 \| Leukemia \| 2 HP:0001945 \| Fever \| 2 HP:0001744 \| Splenomegaly \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0012312 \| Low blood monocyte number \| 1 HP:0002090 \| Pneumonia \| 1 HP:0000573 \| Retinal hemorrhage \| 1 HP:0005506 \| Chronic myeloid leukemia \| 1 HP:0002665 \| Lymphoma \| 1 HP:0100806 \| Sepsis \| 1 HP:0001696 \| Situs inversus totalis \| 1 HP:0002633 \| Vasculitis \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0001974 \| Leukocytosis \| 1 HP:0001875 \| Neutropenia \| 1 HP:0000988 \| Exanthem \| 1 HP:0000112 \| Nephropathy \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0001541 \| Ascites \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	528
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:5) C0042384 \| vasculitis \| 1 C0009450 \| infection \| 1 C0032285 \| pneumonia \| 1 C0042384 \| vasculitides \| 1 C0030312 \| pancytopenia \| 1

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

Text Mining Genotype(Total 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.)

Disease ID	528
Disease	hairy cell leukemia
Case	(Waiting for update.)