MCID: BLY013
MIFTS: 25

B-Lymphoblastic Leukemia/lymphoma with T

Categories: Blood diseases, Cancer diseases, Immune diseases, Rare diseases

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

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

Name: B-Lymphoblastic Leukemia/lymphoma with T 58
B Lymphoblastic Leukemia/lymphoma with T ; Kmt2a Rearranged 58 6
B Lymphoblastic Leukemia Lymphoma with T ; Mll Rearranged 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Orphanet 58 ORPHA585918

Summaries for B-Lymphoblastic Leukemia/lymphoma with T

MalaCards based summary : B-Lymphoblastic Leukemia/lymphoma with T, also known as b lymphoblastic leukemia/lymphoma with t ; kmt2a rearranged, is related to b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) and b-lymphoblastic leukemia/lymphoma with bcr-abl1. An important gene associated with B-Lymphoblastic Leukemia/lymphoma with T is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Gastric cancer and Endometrial cancer. Affiliated tissues include spinal cord, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for B-Lymphoblastic Leukemia/lymphoma with T

Diseases in the B-Lymphoblastic Leukemia/lymphoma family:

B-Lymphoblastic Leukemia/lymphoma with T(9;22)(q34.1;q11.2) B-Lymphoblastic Leukemia/lymphoma with T
B-Lymphoblastic Leukemia/lymphoma with T(12;21)(p13.2;q22.1) B-Lymphoblastic Leukemia/lymphoma with T(1;19)(q23;p13.3)
B-Lymphoblastic Leukemia/lymphoma with T(5;14)(q31.1;q32.3)

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) 11.7
2 b-lymphoblastic leukemia/lymphoma with bcr-abl1 11.6
3 b-lymphoblastic leukemia/lymphoma with etv6-runx1 11.6
4 b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) 11.6
5 b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) 11.6
6 b-lymphoblastic leukemia/lymphoma kmt2a rearranged 11.5
7 b-lymphoblastic leukemia/lymphoma with il3-igh 11.5
8 b-lymphoblastic leukemia/lymphoma with tcf3-pbx1 11.5
9 b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 11.5
10 small intestine benign neoplasm 10.1 KIT APC
11 periampullary adenoma 10.1 MSH6 APC
12 colorectal cancer, hereditary nonpolyposis, type 5 10.1 MSH6 APC
13 attenuated familial adenomatous polyposis 10.1 MSH6 APC
14 esophagus sarcoma 10.1 MSH6 KIT
15 mismatch repair cancer syndrome 1 10.1 MSH6 APC
16 oropharynx cancer 10.1 KIT APC
17 jejunal cancer 10.0 MSH6 BMPR1A
18 uterine body mixed cancer 10.0 MSH6 KIT
19 colonic benign neoplasm 10.0 MSH6 APC
20 hereditary mixed polyposis syndrome 10.0 MSH6 BMPR1A
21 telangiectasis 10.0 RECQL4 BMPR1A
22 dysplastic nevus syndrome 9.9 PALB2 MSH6
23 intestinal benign neoplasm 9.9 MSH6 APC
24 breast-ovarian cancer, familial 1 9.9 PALB2 MSH6
25 colorectal adenocarcinoma 9.9 MSH6 KIT APC
26 lip and oral cavity cancer 9.9 RB1 KIT
27 juvenile polyposis syndrome 9.9 MSH6 BMPR1A APC
28 bilateral breast cancer 9.9 PALB2 MSH6
29 penile disease 9.8 RB1 BMPR1A
30 parathyroid carcinoma 9.8 RB1 APC
31 familial retinoblastoma 9.8 RECQL4 RB1
32 gastrointestinal system benign neoplasm 9.8 MSH6 APC
33 merkel cell carcinoma 9.8 RB1 KIT
34 melanoma, cutaneous malignant 1 9.7 PALB2 MSH6 KIT
35 dedifferentiated liposarcoma 9.7 RB1 KIT
36 bone osteosarcoma 9.7 RECQL4 RB1
37 desmoid tumor 9.7 RB1 KIT APC
38 gastric cancer, hereditary diffuse 9.7 PALB2 MSH6 BMPR1A
39 inflammatory myofibroblastic tumor 9.7 RB1 KIT
40 hematologic cancer 9.6 RB1 KIT APC
41 b-lymphoblastic leukemia/lymphoma 9.6 RB1 MSH6 KIT
42 ocular cancer 9.6 RB1 MSH6 APC
43 brain cancer 9.6 RB1 MSH6 APC
44 small cell cancer of the lung 9.5 RB1 KIT
45 cowden syndrome 9.5 PALB2 MSH6 BMPR1A APC
46 adenocarcinoma 9.4 RB1 MSH6 KIT APC
47 endometrial cancer 9.3 RB1 MSH6 KIT APC
48 li-fraumeni syndrome 9.2 RECQL4 RB1 PALB2 MSH6
49 medulloblastoma 9.1 RB1 PALB2 MSH6 KIT APC
50 lynch syndrome 9.1 RB1 PALB2 MSH6 BMPR1A APC

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



Diseases related to B-Lymphoblastic Leukemia/lymphoma with T

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

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.7 APC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 9.7 BMPR1A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.7 APC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.7 APC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.7 APC BMPR1A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.7 APC
7 Decreased substrate adherent cell growth GR00193-A-1 9.43 KIT
8 Decreased substrate adherent cell growth GR00193-A-2 9.43 BMPR1A KIT
9 Decreased substrate adherent cell growth GR00193-A-3 9.43 BMPR1A
10 Decreased substrate adherent cell growth GR00193-A-4 9.43 BMPR1A KIT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.4 APC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.4 BMPR1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.4 RECQL4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.4 APC BMPR1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.4 APC
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 BMPR1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.4 BMPR1A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.4 BMPR1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 BMPR1A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 BMPR1A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.4 RECQL4

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

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 APC BMPR1A KIT MSH6 PALB2 RB1
2 embryo MP:0005380 9.97 APC BMPR1A KIT PALB2 RB1 RECQL4
3 craniofacial MP:0005382 9.92 APC BMPR1A KIT RB1 RECQL4
4 digestive/alimentary MP:0005381 9.91 APC BMPR1A KIT RB1 RECQL4
5 hematopoietic system MP:0005397 9.91 APC BMPR1A KIT MSH6 RB1 RECQL4
6 integument MP:0010771 9.91 APC BMPR1A KIT MSH6 PALB2 RB1
7 endocrine/exocrine gland MP:0005379 9.88 APC BMPR1A KIT RB1 RECQL4
8 immune system MP:0005387 9.88 APC BMPR1A KIT MSH6 RB1 RECQL4
9 limbs/digits/tail MP:0005371 9.8 APC BMPR1A KIT PALB2 RB1 RECQL4
10 mortality/aging MP:0010768 9.8 APC BMPR1A KIT MSH6 PALB2 RB1
11 hearing/vestibular/ear MP:0005377 9.76 APC BMPR1A KIT RB1
12 neoplasm MP:0002006 9.7 APC BMPR1A KIT MSH6 PALB2 RB1
13 pigmentation MP:0001186 9.35 APC BMPR1A KIT RB1 RECQL4
14 vision/eye MP:0005391 9.02 APC BMPR1A KIT RB1 RECQL4

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

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

Genetic Tests for B-Lymphoblastic Leukemia/lymphoma with T

Anatomical Context for B-Lymphoblastic Leukemia/lymphoma with T

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

40
Spinal Cord

Publications for B-Lymphoblastic Leukemia/lymphoma with T

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

# Title Authors PMID Year
1
De Novo Precursor B-Lymphoblastic Leukemia/Lymphoma With Double-Hit Gene Rearrangements (MYC/BCL-2) Presented With Spinal Cord Compression and Acquired Factor XIII Deficiency. 61
32300395 2017

Variations for B-Lymphoblastic Leukemia/lymphoma with T

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIT NM_000222.2(KIT):c.1670G>A (p.Trp557Ter) SNV Pathogenic 458885 rs1057520032 GRCh37: 4:55593604-55593604
GRCh38: 4:54727438-54727438
2 APC NM_000038.6(APC):c.7513C>G (p.Arg2505Gly) SNV Uncertain significance 82635 rs79630786 GRCh37: 5:112178804-112178804
GRCh38: 5:112843107-112843107

Expression for B-Lymphoblastic Leukemia/lymphoma with T

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

Pathways for B-Lymphoblastic Leukemia/lymphoma with T

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 RB1 KIT APC
2
Show member pathways
12 RB1 MSH6 KIT APC
3 11.97 RECQL4 RB1 MSH6
4
Show member pathways
11.88 RB1 BMPR1A APC
5 11.65 RB1 MSH6 KIT APC
6 11.52 RB1 MSH6 BMPR1A
7
Show member pathways
11.35 RB1 MSH6
8 11.03 RB1 MSH6

GO Terms for B-Lymphoblastic Leukemia/lymphoma with T

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.58 RECQL4 PALB2 MSH6
2 double-strand break repair via homologous recombination GO:0000724 9.46 RECQL4 PALB2
3 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.43 RB1 APC
4 pattern specification process GO:0007389 9.37 BMPR1A APC
5 stem cell population maintenance GO:0019827 9.32 KIT BMPR1A
6 somitogenesis GO:0001756 9.26 PALB2 BMPR1A
7 embryonic organ development GO:0048568 9.16 PALB2 BMPR1A
8 digestive tract development GO:0048565 8.96 RB1 KIT
9 positive regulation of pseudopodium assembly GO:0031274 8.62 KIT APC

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

# Name GO ID Score Top Affiliating Genes
1 oxidized purine DNA binding GO:0032357 8.62 RECQL4 MSH6

Sources for B-Lymphoblastic Leukemia/lymphoma with T

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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