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	mantle cell lymphoma

Disease ID	80
Disease	mantle cell lymphoma
Definition	A form of non-Hodgkin lymphoma having a usually diffuse pattern with both small and medium lymphocytes and small cleaved cells. It accounts for about 5% of adult non-Hodgkin lymphomas in the United States and Europe. The majority of mantle-cell lymphomas are associated with a t(11;14) translocation resulting in overexpression of the CYCLIN D1 gene (GENES, BCL-1).
Synonym	[m]malignant lymphoma, lymphocytic, intermediate differentiation, diffuse [m]malignant lymphoma, lymphocytic, intermediate differentiation, diffuse (morphologic abnormality) cell lymphoma mantle centrocytic small-cell lymphoma centrocytic small-cell lymphomas diffuse lymphocytic lymphoma poorly differ diffuse lymphocytic lymphoma, poorly differentiated diffuse lymphocytic lymphoma, poorly-differentiated diffuse pdl lymphoma diffuse poorly-differentiated lymphocytic lymphoma dpdl lymphoma lymphocytic lymphoma diffuse poorly differ lymphocytic lymphoma, diffuse, poorly differentiated lymphocytic lymphoma, diffuse, poorly-differentiated lymphoma lymphocytic diffuse intermediate differ lymphoma lymphocytic diffuse poorly differ lymphoma, centrocytic small cell lymphoma, centrocytic small-cell lymphoma, lymphocytic, diffuse, intermediate differentiated lymphoma, lymphocytic, diffuse, poorly-differentiated lymphoma, mantle cell lymphoma, mantle-cell lymphoma, mantle-cell [disease/finding] lymphoma, mantle-zone lymphoma, small-cell, centrocytic lymphomas, centrocytic small-cell lymphomas, mantle-cell lymphomas, mantle-zone malignant lymphoma, centrocytic [obs] malignant lymphoma, lymphocytic, intermediate differentiation, diffuse malignant lymphoma, lymphocytic, intermediate differentiation, diffuse [obs] malignant lymphoma, lymphocytic, intermediate differentiation, nodular [obs] malignant lymphoma, lymphocytic, poorly differentiated, diffuse malignant lymphoma, lymphocytic, poorly differentiated, diffuse [obs] mantle cell lymphoma (disorder) mantle cell lymphoma (morphologic abnormality) mantle cell lymphomas mantle zone lymphoma mantle zone lymphoma [obs] mantle-cell lymphoma mantle-cell lymphomas mantle-zone lymphoma mantle-zone lymphomas mcl small-cell lymphoma, centrocytic small-cell lymphomas, centrocytic
Orphanet	ORPHANET:52416
OMIM	OMIM:609964
DOID	DOID:0050746
UMLS	C0334634
MeSH	D020522
SNOMED-CT	SNOMEDCT_US_2016_09_01:443487006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:43) C0023418 \| leukemia \| 4 C0024299 \| lymphoma \| 3 C0002878 \| haemolytic anaemia \| 2 C0024301 \| follicular lymphoma \| 2 C0002880 \| autoimmune haemolytic anaemia \| 2 C0024299 \| lymphomas \| 2 C0023448 \| lymphocytic leukemia \| 2 C0002871 \| anaemia \| 2 C0025268 \| multiple endocrine neoplasia type 2 \| 1 C0026764 \| myeloma \| 1 C0026764 \| multiple myeloma \| 1 C0022660 \| acute renal failure \| 1 C0018213 \| graves' disease \| 1 C0023492 \| t cell leukemia \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0019829 \| hodgkin lymphoma \| 1 C1261473 \| sarcoma \| 1 C0007102 \| colon cancer \| 1 C1522378 \| large granular lymphocytic leukemia \| 1 C0017662 \| membranoproliferative glomerulonephritis \| 1 C0009324 \| ulcerative colitis \| 1 C0027051 \| myocardial infarct \| 1 C0004134 \| ataxia \| 1 C0023470 \| myeloid leukemia \| 1 C0003615 \| appendicitis \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0281963 \| red cell aplasia \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0040034 \| thrombocytopenia \| 1 C0007137 \| squamous cell carcinoma \| 1 C1527336 \| sjogren's syndrome \| 1 C0006413 \| burkitt lymphoma \| 1 C0035078 \| renal failure \| 1 C0027662 \| multiple endocrine neoplasia \| 1 C0178664 \| glomerulosclerosis \| 1 C0282548 \| leukostasis \| 1 C0392548 \| cauda equina syndrome \| 1 C0017658 \| glomerulonephritis \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0004135 \| ataxia telangiectasia \| 1 C0027051 \| myocardial infarction \| 1 C0034902 \| pure red cell aplasia \| 1 C0009319 \| colitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 595 \| CCND1 \| CTD_human;ORPHANET 2932 \| GSK3B \| CTD_human 203 \| AK1 \| CTD_human 1499 \| CTNNB1 \| CTD_human 472 \| ATM \| CLINVAR;ORPHANET;UNIPROT 3492 \| IGH \| ORPHANET 338339 \| CLEC4D \| OMIM 7473 \| WNT3 \| CTD_human 2475 \| MTOR \| CTD_human 9411 \| ARHGAP29 \| CTD_human 5293 \| PIK3CD \| CTD_human 80326 \| WNT10A \| CTD_human 1977 \| EIF4E \| CTD_human 1978 \| EIF4EBP1 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:161) 238 \| ALK \| 2.024 \| DISEASES 545 \| ATR \| 1.242 \| DISEASES 9212 \| AURKB \| 1.134 \| DISEASES 567 \| B2M \| 1.797 \| DISEASES 53335 \| BCL11A \| 1.056 \| DISEASES 596 \| BCL2 \| 1.25 \| DISEASES 10018 \| BCL2L11 \| 2.792 \| DISEASES 648 \| BMI1 \| 2.173 \| DISEASES 128864 \| C20orf144 \| 1.974 \| DISEASES 79680 \| C22orf29 \| 1.202 \| DISEASES 23705 \| CADM1 \| 3.286 \| DISEASES 84433 \| CARD11 \| 1.731 \| DISEASES 841 \| CASP8 \| 1.175 \| DISEASES 842 \| CASP9 \| 2.201 \| DISEASES 152137 \| CCDC50 \| 2.729 \| DISEASES 896 \| CCND3 \| 3.662 \| DISEASES 900 \| CCNG1 \| 1.501 \| DISEASES 8812 \| CCNK \| 1.371 \| DISEASES 930 \| CD19 \| 4.675 \| DISEASES 914 \| CD2 \| 1.464 \| DISEASES 4345 \| CD200 \| 3.656 \| DISEASES 951 \| CD37 \| 2.279 \| DISEASES 958 \| CD40 \| 3.151 \| DISEASES 959 \| CD40LG \| 3.083 \| DISEASES 960 \| CD44 \| 1.19 \| DISEASES 921 \| CD5 \| 6.567 \| DISEASES 1043 \| CD52 \| 2.229 \| DISEASES 966 \| CD59 \| 1.026 \| DISEASES 974 \| CD79B \| 3.324 \| DISEASES 8556 \| CDC14A \| 1.242 \| DISEASES 8476 \| CDC42BPA \| 1.635 \| DISEASES 1025 \| CDK9 \| 1.647 \| DISEASES 1029 \| CDKN2A \| 3.288 \| DISEASES 1084 \| CEACAM3 \| 2.088 \| DISEASES 1063 \| CENPF \| 1.459 \| DISEASES 1111 \| CHEK1 \| 1.634 \| DISEASES 11200 \| CHEK2 \| 1.571 \| DISEASES 11113 \| CIT \| 2.132 \| DISEASES 574028 \| CLLU1 \| 1.442 \| DISEASES 1268 \| CNR1 \| 1.424 \| DISEASES 1378 \| CR1 \| 2.124 \| DISEASES 1380 \| CR2 \| 2.416 \| DISEASES 8738 \| CRADD \| 1.317 \| DISEASES 541466 \| CT45A1 \| 1.242 \| DISEASES 1499 \| CTNNB1 \| 1.247 \| DISEASES 1506 \| CTRL \| 2.084 \| DISEASES 6387 \| CXCL12 \| 1.442 \| DISEASES 7852 \| CXCR4 \| 1.608 \| DISEASES 10301 \| DLEU1 \| 1.967 \| DISEASES 79469 \| DLEU2L \| 2.816 \| DISEASES 1791 \| DNTT \| 1.729 \| DISEASES 1847 \| DUSP5 \| 2.946 \| DISEASES 1850 \| DUSP8 \| 2.281 \| DISEASES 1977 \| EIF4E \| 2.333 \| DISEASES 1978 \| EIF4EBP1 \| 2.38 \| DISEASES 1979 \| EIF4EBP2 \| 1.237 \| DISEASES 355 \| FAS \| 1.076 \| DISEASES 26267 \| FBXO10 \| 2.063 \| DISEASES 2213 \| FCGR2B \| 1.013 \| DISEASES 115350 \| FCRL1 \| 1.872 \| DISEASES 83416 \| FCRL5 \| 1.305 \| DISEASES 84824 \| FCRLA \| 1.223 \| DISEASES 2331 \| FMOD \| 1.849 \| DISEASES 2309 \| FOXO3 \| 1.64 \| DISEASES 2526 \| FUT4 \| 1.129 \| DISEASES 53827 \| FXYD5 \| 2.832 \| DISEASES 2262 \| GPC5 \| 1.694 \| DISEASES 2882 \| GPX7 \| 1.934 \| DISEASES 3014 \| H2AFX \| 1.741 \| DISEASES 388697 \| HRNR \| 1.319 \| DISEASES 3320 \| HSP90AA1 \| 1.871 \| DISEASES 219844 \| HYLS1 \| 1.755 \| DISEASES 100423062 \| IGLL5 \| 3.355 \| DISEASES 3586 \| IL10 \| 1.54 \| DISEASES 3621 \| ING1 \| 1.947 \| DISEASES 3662 \| IRF4 \| 2.412 \| DISEASES 3676 \| ITGA4 \| 1.301 \| DISEASES 3683 \| ITGAL \| 1.198 \| DISEASES 83700 \| JAM3 \| 2.273 \| DISEASES 55614 \| KIF16B \| 1.832 \| DISEASES 3840 \| KPNA4 \| 1.235 \| DISEASES 26524 \| LATS2 \| 1.116 \| DISEASES 4050 \| LTB \| 1.562 \| DISEASES 4067 \| LYN \| 1.912 \| DISEASES 5599 \| MAPK8 \| 1.299 \| DISEASES 4082 \| MARCKS \| 1.213 \| DISEASES 4170 \| MCL1 \| 4.058 \| DISEASES 4193 \| MDM2 \| 2.693 \| DISEASES 407975 \| MIR17HG \| 3.312 \| DISEASES 4288 \| MKI67 \| 1.324 \| DISEASES 4311 \| MME \| 4.913 \| DISEASES 4332 \| MNDA \| 2.51 \| DISEASES 126308 \| MOB3A \| 3.002 \| DISEASES 51338 \| MS4A4A \| 1.572 \| DISEASES 2475 \| MTOR \| 4.23 \| DISEASES 4609 \| MYC \| 4.176 \| DISEASES 4615 \| MYD88 \| 1.375 \| DISEASES 10529 \| NEBL \| 1.342 \| DISEASES 25983 \| NGDN \| 1.465 \| DISEASES 283869 \| NPW \| 1.227 \| DISEASES 26254 \| OPTC \| 1.231 \| DISEASES 142 \| PARP1 \| 2.392 \| DISEASES 5079 \| PAX5 \| 2.983 \| DISEASES 5101 \| PCDH9 \| 1.4 \| DISEASES 23035 \| PHLPP2 \| 1.846 \| DISEASES 5293 \| PIK3CD \| 1.715 \| DISEASES 11040 \| PIM2 \| 2.327 \| DISEASES 5336 \| PLCG2 \| 2.009 \| DISEASES 5359 \| PLSCR1 \| 1.049 \| DISEASES 5366 \| PMAIP1 \| 4.198 \| DISEASES 23532 \| PRAME \| 1.068 \| DISEASES 639 \| PRDM1 \| 2.488 \| DISEASES 5549 \| PRELP \| 1.083 \| DISEASES 5567 \| PRKACB \| 1.163 \| DISEASES 122706 \| PSMB11 \| 1.678 \| DISEASES 5728 \| PTEN \| 1.487 \| DISEASES 5788 \| PTPRC \| 2.479 \| DISEASES 5795 \| PTPRJ \| 2.806 \| DISEASES 5810 \| RAD1 \| 4.726 \| DISEASES 5905 \| RANGAP1 \| 1.232 \| DISEASES 10181 \| RBM5 \| 1.005 \| DISEASES 1104 \| RCC1 \| 1.525 \| DISEASES 5970 \| RELA \| 1.233 \| DISEASES 23180 \| RFTN1 \| 1.919 \| DISEASES 6003 \| RGS13 \| 1.967 \| DISEASES 6016 \| RIT1 \| 1.047 \| DISEASES 6091 \| ROBO1 \| 1.213 \| DISEASES 4919 \| ROR1 \| 3.47 \| DISEASES 101927034 \| ROR1-AS1 \| 3.056 \| DISEASES 6419 \| SETMAR \| 3.174 \| DISEASES 2030 \| SLC29A1 \| 1.784 \| DISEASES 3177 \| SLC29A2 \| 1.531 \| DISEASES 347734 \| SLC35B2 \| 4.774 \| DISEASES 9351 \| SLC9A3R2 \| 1.114 \| DISEASES 23583 \| SMUG1 \| 2.535 \| DISEASES 6622 \| SNCA \| 1.915 \| DISEASES 6664 \| SOX11 \| 6.298 \| DISEASES 6666 \| SOX12 \| 2.988 \| DISEASES 6665 \| SOX15 \| 2.697 \| DISEASES 6693 \| SPN \| 4.231 \| DISEASES 57213 \| SPRYD7 \| 2.219 \| DISEASES 140890 \| SREK1 \| 2.271 \| DISEASES 6736 \| SRY \| 1.654 \| DISEASES 6491 \| STIL \| 2.251 \| DISEASES 6838 \| SURF6 \| 2.464 \| DISEASES 6850 \| SYK \| 2.821 \| DISEASES 23158 \| TBC1D9 \| 2.12 \| DISEASES 8115 \| TCL1A \| 2.298 \| DISEASES 7029 \| TFDP2 \| 1.515 \| DISEASES 102659353 \| THRIL \| 2.206 \| DISEASES 8764 \| TNFRSF14 \| 1.075 \| DISEASES 10673 \| TNFSF13B \| 2.478 \| DISEASES 7153 \| TOP2A \| 1.387 \| DISEASES 7155 \| TOP2B \| 1.578 \| DISEASES 10376 \| TUBA1B \| 1.023 \| DISEASES 51366 \| UBR5 \| 1.683 \| DISEASES 400673 \| VMAC \| 1.979 \| DISEASES 644150 \| WIPF3 \| 1.563 \| DISEASES 331 \| XIAP \| 2.08 \| DISEASES 7514 \| XPO1 \| 2.494 \| DISEASES 340152 \| ZC3H12D \| 2.897 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) CCND1 \| 11q13.3 IGH \| 14q32.33 ATM \| 11q22.3

Disease ID	80
Disease	mantle cell lymphoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0002716 \| Lymphadenopathy HP:0001744 \| Splenomegaly HP:0005561 \| Abnormality of bone marrow cell morphology HP:0012378 \| Fatigue HP:0012191 \| B-cell lymphoma HP:0001824 \| Weight loss HP:0001945 \| Fever HP:0011024 \| Abnormality of the gastrointestinal tract HP:0002039 \| Anorexia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0002664 \| Neoplasia \| 4 HP:0002665 \| Lymphoma \| 4 HP:0001909 \| Leukemia \| 4 HP:0001873 \| Low platelet count \| 2 HP:0001903 \| Anemia \| 2 HP:0001890 \| Autoimmune hemolytic anemia \| 2 HP:0001878 \| Haemolytic anaemia \| 2 HP:0003003 \| Colon cancer \| 1 HP:0012223 \| Ruptured spleen \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0001541 \| Ascites \| 1 HP:0012410 \| Pure red cell aplasia \| 1 HP:0001251 \| Ataxia \| 1 HP:0002583 \| Colitis \| 1 HP:0030080 \| Burkitt lymphoma \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0030731 \| Carcinoma \| 1 HP:0001744 \| Splenomegaly \| 1 HP:0000793 \| Membranoproliferative glomerulonephritis \| 1 HP:0100568 \| Endocrine neoplasia \| 1 HP:0100242 \| Sarcoma \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0100806 \| Sepsis \| 1 HP:0000096 \| Glomerulosclerosis \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0012579 \| Minimal change glomerulonephritis \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0100827 \| Lymphocytosis \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1

Disease ID	80
Disease	mantle cell lymphoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:16) C2364133 \| infection C0334638 \| multiple lymphomatous polyposis C0334108 \| polyposis C0235618 \| proliferative glomerulonephritis C0154254 \| polyclonal hypergammaglobulinemia C0149937 \| acute tubulo-interstitial nephritis C0043117 \| idiopathic thrombocytopenic purpura (itp) C0043117 \| idiopathic thrombocytopenic purpura C0037285 \| skin manifestation C0037284 \| skin lesions C0030805 \| bullous pemphigoid C0024205 \| lymphadenitis C0022660 \| acute renal failure C0020625 \| hyponatremia C0015300 \| proptosis C0002880 \| autoimmune haemolytic anaemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0334638 \| multiple lymphomatous polyposis \| 3 C0037285 \| skin manifestation \| 2 C0002880 \| autoimmune haemolytic anaemia \| 2 C0334108 \| polyposis \| 2 C0235618 \| proliferative glomerulonephritis \| 1 C0022660 \| acute renal failure \| 1

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

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

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25511147	673	BRAF	umls:C0334634	BeFree	The performance of the BRAF V600E-specific VE1 antibody was compared with that of allele-specific polymerase chain reaction (PCR) in 22 formalin-fixed, paraffin-embedded (FFPE) specimens with HCL involvement, along with nine splenic marginal zone lymphomas (SMZLs), 10 follicular lymphomas (FLs), 10 mantle cell lymphomas (MCLs), and 10 chronic lymphocytic leukemia/small lymphocytic lymphomas (CLL/SLLs).	0.000271442	2015	BRAF	7	140753336	A	T,G,C
rs11547328	22592113	1019	CDK4	umls:C0334634	BeFree	Recently two different mice models prone to develop MCL-like lymphomas were generated: c-myc-3'RR/Cdk4(R24C) mice and c-myc-3'RR/p53+/- mice.	0.003810118	2012	CDK4;MARCH9	12	57751648	G	A
rs121434221	NA	472	ATM	umls:C0334634	CLINVAR	NA	0.246243163	NA	ATM	11	108329199	A	G
rs121434222	NA	472	ATM	umls:C0334634	CLINVAR	NA	0.246243163	NA	ATM	11	108287687	C	T
rs1800629	20087644	7124	TNF	umls:C0334634	BeFree	TNF rs1800629 was associated with risk of NHL (OR 1.53, 95% confidence interval, CI, 1.06-2.19 for minor allele homozygosity), T-cell lymphoma (OR 2.54, CI 1.27-5.09) and mantle cell lymphoma (OR 2.84, CI 1.38-5.87).	0.000271442	2010	TNF	6	31575254	G	A
rs1800890	20087644	3586	IL10	umls:C0334634	BeFree	IL10 rs1800890 was associated with risk of diffuse large B-cell lymphoma (OR 1.41, CI 1.08-1.85 for minor allele homozygosity) and mantle cell lymphoma (OR 1.77, CI 1.04-3.00).	0.000542884	2010	IL10	1	206776020	A	T
rs796051857	NA	472	ATM	umls:C0334634	CLINVAR	NA	0.246243163	NA	ATM	11	108329184	-	GAA

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0005561	Abnormality of bone marrow cell morphology	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
HP:0012191	B-cell lymphoma	MP:0009317	increased follicular lymphoma incidence	higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time

Mapped by homologous gene(Total Items:8)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001945	Fever	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001824	Weight loss	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0012191	B-cell lymphoma	MP:0014082	decreased small intestinal villus height	decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy
HP:0002716	Lymphadenopathy	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0002039	Anorexia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0012378	Fatigue	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0005561	Abnormality of bone marrow cell morphology	MP:0014071	increased cardiac muscle glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle

Disease ID	80
Disease	mantle cell lymphoma
Case	(Waiting for update.)

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