MCID: BLY005
MIFTS: 31

B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Categories: Blood diseases, Cancer diseases, Immune diseases

Aliases & Classifications for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

MalaCards integrated aliases for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy:

Name: B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy 12 15
B Lymphoblastic Leukemia Lymphoma with Hyperdiploidy 6
B-All with Hyperdiploidy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080646
NCIt 49 C80335

Summaries for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Disease Ontology : 12 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.

MalaCards based summary : B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy, also known as b lymphoblastic leukemia lymphoma with hyperdiploidy, is related to anaplastic/large cell medulloblastoma and large cell medulloblastoma. An important gene associated with B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are ERK Signaling and Glioma. Affiliated tissues include b lymphoblasts, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Diseases related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 anaplastic/large cell medulloblastoma 10.5 BRCA2 ALK
2 large cell medulloblastoma 10.5 BRCA2 ALK
3 fallopian tube clear cell adenocarcinoma 10.5 BRCA2 BRCA1
4 rare malignant breast tumor 10.5 BRCA2 BRCA1
5 synchronous bilateral breast carcinoma 10.5 BRCA2 BRCA1
6 ovary transitional cell carcinoma 10.5 BRCA2 BRCA1
7 hereditary site-specific ovarian cancer syndrome 10.5 BRCA2 BRCA1
8 familial ovarian cancer 10.4 BRCA2 BRCA1
9 tetraploidy 10.4 BRCA2 BRCA1
10 cancerophobia 10.4 BRCA2 BRCA1
11 basaloid lung carcinoma 10.4 BRCA2 BRCA1
12 nosophobia 10.4 BRCA2 BRCA1
13 breast-ovarian cancer, familial 2 10.4 BRCA2 BRCA1
14 attenuated familial adenomatous polyposis 10.4 MSH2 APC
15 familial colorectal cancer 10.4 MSH2 APC
16 myh-associated polyposis 10.4 MSH2 APC
17 endosalpingiosis 10.3 BRCA2 BRCA1
18 tafro syndrome 10.3 TCF3 MAP2K2
19 cervical adenoma malignum 10.3 MSH2 BRCA2 BRCA1
20 dysplastic nevus syndrome 10.3 MSH2 BRCA2 BRCA1
21 breast-ovarian cancer, familial 1 10.3 MSH2 BRCA2 BRCA1
22 colorectal cancer, hereditary nonpolyposis, type 5 10.3 MSH2 APC
23 ovarian carcinosarcoma 10.3 BRCA2 BRCA1
24 female reproductive endometrioid cancer 10.3 MSH2 BRCA2 BRCA1
25 primary peritoneal carcinoma 10.3 RET BRCA2 BRCA1
26 uterine corpus cancer 10.2 MSH2 BRCA2 BRCA1
27 mutagen sensitivity 10.2 BRCA2 BRCA1
28 ovary epithelial cancer 10.2 BRCA2 BRCA1 APC
29 hereditary breast ovarian cancer syndrome 10.2 MSH2 BRCA2 BRCA1
30 malignant ovarian surface epithelial-stromal neoplasm 10.2 BRCA2 BRCA1 APC
31 differentiated thyroid carcinoma 10.1 RET ETV6 ALK
32 loeffler endocarditis 10.1 IL3 ETV6
33 spitzoid melanoma 10.1 RET ALK
34 alveolar soft part sarcoma 10.1 TCF3 RET MSH2
35 melanoma, cutaneous malignant 1 10.0 MSH2 MAP2K2 BRCA2 BRCA1
36 cowden syndrome 1 10.0 RET MSH2 BRCA2 BRCA1
37 cowden syndrome 10.0 RET MSH2 BRCA2 BRCA1
38 li-fraumeni syndrome 10.0 MSH2 BRCA2 BRCA1
39 mental retardation, autosomal dominant 29 10.0 PBX1 ABL1
40 lynch syndrome 10.0 MSH2 BRCA2 BRCA1 APC
41 b-cell adult acute lymphocytic leukemia 10.0 PBX1 ABL1
42 childhood t-cell acute lymphoblastic leukemia 10.0 CBL BRCA2 ABL1
43 autosomal recessive cerebellar ataxia 10.0 FARSA BRCA2 BRCA1
44 ocular cancer 10.0 MSH2 BRCA2 APC
45 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.0 ETV6 ABL1
46 testicular leukemia 10.0 ETV6 ABL1
47 pediatric fibrosarcoma 10.0 ETV6 ALK
48 lymphoma 9.9 MSH2 CBL BRCA2 BRCA1 ALK
49 pediatric lymphoma 9.9 IGHV4-38-2 ALK
50 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9 RET MSH2 BRCA2 BRCA1 APC

Graphical network of the top 20 diseases related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy:



Diseases related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Symptoms & Phenotypes for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

GenomeRNAi Phenotypes related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy according to GeneCards Suite gene sharing:

26 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.15 ETV6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.15 MSH2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.15 CBL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.15 ETV6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.15 MSH2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.15 CBL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.15 ETV6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.15 ABL1 CBL ETV6 MSH2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.15 CBL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.15 ABL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.15 ETV6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.15 MSH2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.15 ETV6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.15 CBL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.15 CBL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.15 ETV6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.15 CBL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.15 CBL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.15 ABL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.15 MSH2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.15 ABL1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10.15 ABL1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.15 ABL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.15 ABL1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.15 ETV6
26 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10.15 MSH2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.15 CBL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.15 ABL1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.93 RET
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.93 RET
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.93 RET
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.93 ETV6
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.93 ETV6
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.93 RET
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.93 MSH2
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.93 MSH2
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.93 MSH2
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.93 MSH2
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.93 MICU1
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.93 ETV6
41 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.43 ALK MAP2K2 RET
42 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC BRCA1 BRCA2 MAP2K2 MSH2

MGI Mouse Phenotypes related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ABL1 ALK APC BRCA1 BRCA2 CBL
2 cellular MP:0005384 10.35 ABL1 APC BRCA1 BRCA2 CBL EDIL3
3 growth/size/body region MP:0005378 10.35 ABL1 ALK APC BRCA1 BRCA2 CBL
4 endocrine/exocrine gland MP:0005379 10.33 ABL1 ALK APC BRCA1 BRCA2 CBL
5 behavior/neurological MP:0005386 10.29 ABL1 ALK APC BRCA1 BRCA2 CBL
6 mortality/aging MP:0010768 10.28 ABL1 ALK APC BRCA1 BRCA2 CBL
7 digestive/alimentary MP:0005381 10.27 ABL1 APC BRCA1 BRCA2 EDIL3 ETV6
8 hematopoietic system MP:0005397 10.26 ABL1 APC BRCA1 BRCA2 CBL EDIL3
9 cardiovascular system MP:0005385 10.24 ABL1 APC BRCA1 CBL EDIL3 ETV6
10 immune system MP:0005387 10.24 ABL1 APC BRCA1 BRCA2 CBL EDIL3
11 embryo MP:0005380 10.21 ABL1 APC BRCA1 BRCA2 EDIL3 ETV6
12 integument MP:0010771 10.18 ALK APC BRCA1 BRCA2 CBL EDIL3
13 limbs/digits/tail MP:0005371 10.06 APC BRCA1 BRCA2 CBL EDIL3 PBX1
14 neoplasm MP:0002006 10.02 ALK APC BRCA1 BRCA2 ETV6 MAP2K2
15 nervous system MP:0003631 10.02 ABL1 ALK APC BRCA1 BRCA2 EDIL3
16 normal MP:0002873 9.96 ABL1 APC BRCA1 BRCA2 EDIL3 ETV6
17 muscle MP:0005369 9.95 ABL1 APC BRCA1 CBL EDIL3 PBX1
18 reproductive system MP:0005389 9.81 ALK APC BRCA1 BRCA2 CBL EDIL3
19 respiratory system MP:0005388 9.5 ABL1 ALK BRCA1 CBL EDIL3 PBX1
20 skeleton MP:0005390 9.32 ABL1 ALK APC BRCA1 BRCA2 CBL

Drugs & Therapeutics for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Search Clinical Trials , NIH Clinical Center for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Genetic Tests for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Anatomical Context for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

MalaCards organs/tissues related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy:

40
B Lymphoblasts

Publications for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Articles related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy:

# Title Authors PMID Year
1
Childhood acute lymphoblastic leukemia with equivocal chromosome markers of the t(1;19) translocation. 61
7542913 1995

Variations for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

ClinVar genetic disease variations for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr)SNV Conflicting interpretations of pathogenicity 38005 rs80358822 13:32914388-32914388 13:32340251-32340251
2 RET NM_020975.6(RET):c.1699G>A (p.Asp567Asn)SNV Conflicting interpretations of pathogenicity 136103 rs147219360 10:43608351-43608351 10:43112903-43112903
3 MSH2 NM_000251.2(MSH2):c.2120G>A (p.Cys707Tyr)SNV Conflicting interpretations of pathogenicity 182571 rs373226409 2:47703620-47703620 2:47476481-47476481
4 BRCA2 NM_000059.3(BRCA2):c.5023T>C (p.Cys1675Arg)SNV Uncertain significance 184360 rs786201420 13:32913515-32913515 13:32339378-32339378
5 BRCA2 NM_000059.3(BRCA2):c.8708A>G (p.Glu2903Gly)SNV Uncertain significance 419320 rs730881566 13:32950882-32950882 13:32376745-32376745
6 APC NM_000038.6(APC):c.682A>G (p.Ile228Val)SNV Uncertain significance 470063 rs1554074757 5:112128179-112128179 5:112792482-112792482
7 CBL NM_005188.4(CBL):c.1676G>T (p.Arg559Leu)SNV Uncertain significance 503532 rs143034856 11:119156011-119156011 11:119285301-119285301
8 ALK NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)SNV Uncertain significance 576618 rs768366852 2:29473981-29473981 2:29251115-29251115
9 MAP2K2 NM_030662.3(MAP2K2):c.523A>G (p.Ile175Val)SNV Uncertain significance 620597 rs373325880 19:4102379-4102379 19:4102381-4102381
10 BRCA1 NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)SNV Benign 37420 rs41286294 17:41246014-41246014 17:43093997-43093997

Expression for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Search GEO for disease gene expression data for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy.

Pathways for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Pathways related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 TCF3 MAP2K2 IL3 CBL BRCA1 APC
2
Show member pathways
12.36 MAP2K2 CBL BRCA2 BRCA1 ALK
3 12.33 TCF3 PBX1 IL3 CBL
4
Show member pathways
12.3 RET MSH2 MAP2K2 IL3 CBL BRCA2
5 12.27 MAP2K2 BRCA1 APC ABL1
6
Show member pathways
12.13 MAP2K2 IL3 CBL APC ALK
7 12 RET MSH2 MAP2K2 IL3 CBL BRCA2
8 11.99 TCF3 PBX1 IL3 ETV6
9 11.84 TCF3 MSH2 MAP2K2 APC
10 11.75 MSH2 BRCA2 BRCA1 ABL1
11 11.72 TCF3 MAP2K2 APC
12 11.63 RET CBL ALK ABL1
13
Show member pathways
11.55 MSH2 BRCA2 BRCA1

GO Terms for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Cellular components related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 BRCA2 BRCA1

Biological processes related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 TCF3 RET MAP2K2 BRCA2 BRCA1
2 cell cycle arrest GO:0007050 9.71 MSH2 APC ABL1
3 activation of MAPK activity GO:0000187 9.69 RET MAP2K2 ALK
4 DNA recombination GO:0006310 9.63 MSH2 BRCA2 BRCA1
5 regulation of cell proliferation GO:0042127 9.62 PBX1 BRCA1 ALK ABL1
6 double-strand break repair GO:0006302 9.54 MSH2 BRCA2 BRCA1
7 response to X-ray GO:0010165 9.52 MSH2 BRCA2
8 embryonic hemopoiesis GO:0035162 9.49 PBX1 IL3
9 peptidyl-tyrosine phosphorylation GO:0018108 9.46 RET MAP2K2 ALK ABL1
10 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.43 BRCA2 BRCA1
11 cellular response to DNA damage stimulus GO:0006974 9.43 MSH2 CBL BRCA2 BRCA1 APC ABL1
12 postreplication repair GO:0006301 9.4 MSH2 BRCA1
13 chordate embryonic development GO:0043009 9.26 BRCA2 BRCA1
14 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 8.92 MSH2 BRCA2 BRCA1 ABL1

Molecular functions related to B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 four-way junction DNA binding GO:0000400 8.96 MSH2 ABL1
2 protein tyrosine kinase activity GO:0004713 8.92 RET MAP2K2 ALK ABL1

Sources for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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