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


	splenic marginal zone lymphoma

Disease ID	1290
Disease	splenic marginal zone lymphoma
Definition	A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)
Synonym	lymphoma splenic marginal zone marginal zone lymphoma of spleen marginal zone lymphoma of the spleen marginal zone splenic lymphoma slvl smzl splenic lymphoma with circulating villous lymphocytes splenic lymphoma with villous lymphocytes splenic lymphoma with villous lymphocytes (disorder) splenic marginal zone b-cell lymphoma splenic marginal zone b-cell lymphoma (morphologic abnormality) splenic marginal zone b-cell lymphoma with villous lymphocytes splenic marginal zone lymphoma with villous lymphocytes
Orphanet	ORPHANET:86854
DOID	DOID:0050750
UMLS	C0349632
SNOMED-CT	SNOMEDCT_US_2016_09_01:277551008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0024299 \| lymphoma \| 8 C0349632 \| splenic lymphoma with villous lymphocytes \| 6 C0019196 \| hepatitis c \| 2 C0002880 \| autoimmune hemolytic anemia \| 1 C0032463 \| polycythemia vera \| 1 C0021053 \| immune disorder \| 1 C0021053 \| immune disorders \| 1 C0002871 \| anemia \| 1 C0079731 \| b-cell lymphoma \| 1 C0019158 \| hepatitis \| 1 C0024899 \| mastocytosis \| 1 C0040053 \| thrombosis \| 1 C0002878 \| hemolytic anemia \| 1 C0032461 \| polycythemia \| 1 C0221013 \| systemic mastocytosis \| 1 C0017665 \| membranous glomerulonephritis \| 1 C0017658 \| glomerulonephritis \| 1 C0023443 \| hairy cell leukemia \| 1 C0023418 \| leukemia \| 1 C0032533 \| polymyalgia rheumatica \| 1 C0042769 \| virus infection \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:68) 154810 \| AMOTL1 \| 3.89 \| DISEASES 8125 \| ANP32A \| 1.921 \| DISEASES 716 \| C1S \| 1.062 \| DISEASES 813 \| CALU \| 2.092 \| DISEASES 84433 \| CARD11 \| 3.354 \| DISEASES 930 \| CD19 \| 3.838 \| DISEASES 4345 \| CD200 \| 1.155 \| DISEASES 958 \| CD40 \| 1.311 \| DISEASES 959 \| CD40LG \| 3.137 \| DISEASES 921 \| CD5 \| 4.24 \| DISEASES 974 \| CD79B \| 3.321 \| DISEASES 574028 \| CLLU1 \| 2.645 \| DISEASES 26958 \| COPG2 \| 3.5 \| DISEASES 1378 \| CR1 \| 1.611 \| DISEASES 1380 \| CR2 \| 2.345 \| DISEASES 8454 \| CUL1 \| 1.355 \| DISEASES 4283 \| CXCL9 \| 1.205 \| DISEASES 2833 \| CXCR3 \| 1.29 \| DISEASES 1847 \| DUSP5 \| 2.107 \| DISEASES 79633 \| FAT4 \| 2.192 \| DISEASES 80204 \| FBXO11 \| 2.403 \| DISEASES 3607 \| FOXK2 \| 2.544 \| DISEASES 2885 \| GRB2 \| 1.656 \| DISEASES 9734 \| HDAC9 \| 1.344 \| DISEASES 219844 \| HYLS1 \| 1.47 \| DISEASES 100423062 \| IGLL5 \| 1.422 \| DISEASES 3563 \| IL3RA \| 2.692 \| DISEASES 3663 \| IRF5 \| 2.066 \| DISEASES 3903 \| LAIR1 \| 2.165 \| DISEASES 9404 \| LPXN \| 1.537 \| DISEASES 5609 \| MAP2K7 \| 1.481 \| DISEASES 4311 \| MME \| 3.481 \| DISEASES 4332 \| MNDA \| 2.196 \| DISEASES 4615 \| MYD88 \| 3.587 \| DISEASES 4720 \| NDUFS2 \| 1.32 \| DISEASES 4791 \| NFKB2 \| 1.306 \| DISEASES 5079 \| PAX5 \| 2.43 \| DISEASES 5101 \| PCDH9 \| 2.603 \| DISEASES 10846 \| PDE10A \| 1.587 \| DISEASES 5422 \| POLA1 \| 2.025 \| DISEASES 5578 \| PRKCA \| 1.239 \| DISEASES 5788 \| PTPRC \| 1.325 \| DISEASES 5789 \| PTPRD \| 1.624 \| DISEASES 5889 \| RAD51C \| 1.43 \| DISEASES 64783 \| RBM15 \| 3.374 \| DISEASES 1104 \| RCC1 \| 1.771 \| DISEASES 399 \| RHOH \| 1.988 \| DISEASES 327657 \| SERPINA9 \| 2.169 \| DISEASES 6418 \| SET \| 1.72 \| DISEASES 6614 \| SIGLEC1 \| 1.731 \| DISEASES 347734 \| SLC35B2 \| 1.265 \| DISEASES 150572 \| SMYD1 \| 3.037 \| DISEASES 6622 \| SNCA \| 1.487 \| DISEASES 27044 \| SND1 \| 1.659 \| DISEASES 6664 \| SOX11 \| 2.49 \| DISEASES 23013 \| SPEN \| 2.748 \| DISEASES 6693 \| SPN \| 2.41 \| DISEASES 8115 \| TCL1A \| 3.53 \| DISEASES 7027 \| TFDP1 \| 2.007 \| DISEASES 7096 \| TLR1 \| 1.008 \| DISEASES 10333 \| TLR6 \| 1.252 \| DISEASES 54106 \| TLR9 \| 1.165 \| DISEASES 84928 \| TMEM209 \| 3.838 \| DISEASES 7187 \| TRAF3 \| 3.135 \| DISEASES 8295 \| TRRAP \| 2.232 \| DISEASES 127933 \| UHMK1 \| 1.586 \| DISEASES 340152 \| ZC3H12D \| 1.566 \| DISEASES 51530 \| ZC3HC1 \| 2.456 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1290
Disease	splenic marginal zone lymphoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0002665 \| Lymphoma \| 8 HP:0012191 \| B-cell lymphoma \| 1 HP:0001901 \| Abnormally shaped erythrocytes \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0001903 \| Anemia \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0001909 \| Leukemia \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0100495 \| Mastocytosis \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	1290
Disease	splenic marginal zone lymphoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1627365 \| littoral cell angioma C0476273 \| respiratory distress C0413236 \| acquired c1 esterase inhibitor deficiency C0079731 \| b-cell lymphoma C0024419 \| macroglobulinemia C0002880 \| autoimmune hemolytic anemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0079731 \| b-cell lymphoma \| 1 C0002880 \| autoimmune hemolytic anemia \| 1

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

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	22531170	673	BRAF	umls:C0349632	BeFree	In this study we investigated the application of a BRAF V600E mutation-specific antibody (clone VE1) to differentiate HCL from HCL mimics, such as HCL variant and splenic marginal zone lymphoma.	0.001085767	2012	BRAF	7	140753336	A	T,G,C
rs113488022	25480661	673	BRAF	umls:C0349632	BeFree	BRAF-V600E is the key driver mutation in HCL and distinguishes it from other B-cell lymphomas, including HCL-like leukemias/lymphomas (HCL-variant and splenic marginal zone lymphoma).	0.001085767	2015	BRAF	7	140753336	A	T,G,C
rs121913364	22133769	673	BRAF	umls:C0349632	BeFree	A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma.	0.001085767	2012	BRAF	7	140753334	T	G,C
rs387907272	23321251	10584	COLEC10	umls:C0349632	BeFree	Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts).	0.000271442	2013	MYD88	3	38141150	T	C
rs387907272	25723115	4615	MYD88	umls:C0349632	BeFree	After reclassification, MYD88 L265P was detected in 13/86 (15%) SMZL and in 19/24 LPL (79%) cases.	0.000814326	2015	MYD88	3	38141150	T	C
rs387907272	23355535	4615	MYD88	umls:C0349632	BeFree	MYD88 (L265P) was detected in 58/58 (100%) patients with WM, 36/77 (47%) with IgM-MGUS, 5/84 (6%) with SMZL, and 3/52 (4%) with B-CLPD.	0.000814326	2013	MYD88	3	38141150	T	C
rs387907272	23321251	160364	CLEC12A	umls:C0349632	BeFree	Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts).	0.000271442	2013	MYD88	3	38141150	T	C
rs387907272	23321251	4615	MYD88	umls:C0349632	BeFree	Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts).	0.000814326	2013	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	1290
Disease	splenic marginal zone lymphoma
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter