MCID: LYM138
MIFTS: 41

Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Categories: Immune diseases, Cancer diseases

Aliases & Classifications for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

MalaCards integrated aliases for Lymphoblastic Leukemia, Acute, with Lymphomatous Features:

Name: Lymphoblastic Leukemia, Acute, with Lymphomatous Features 57 29 6
Acute Lymphoblastic Leukemia with Lymphomatous Features 73
Leukemia, Acute Lymphoblastic 57
Lymphomatous All 57
Lall 57

Characteristics:

OMIM:

57
Inheritance:
acquired specific neoplasm by autosomal recessive mechanism through somatic cell mutation


Classifications:



External Ids:

OMIM 57 247640
MedGen 42 C1855472
UMLS 73 C1855472

Summaries for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

MalaCards based summary : Lymphoblastic Leukemia, Acute, with Lymphomatous Features, also known as acute lymphoblastic leukemia with lymphomatous features, is related to lymphoblastic leukemia and leukemia, acute lymphoblastic. An important gene associated with Lymphoblastic Leukemia, Acute, with Lymphomatous Features is CRLF2 (Cytokine Receptor Like Factor 2), and among its related pathways/superpathways are TGF-Beta Pathway and Akt Signaling. Affiliated tissues include t cells, lymph node and spleen, and related phenotypes are lymphoma and t-cell acute lymphoblastic leukemias

Description from OMIM: 247640

Related Diseases for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Graphical network of the top 20 diseases related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features:



Diseases related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Symptoms & Phenotypes for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Symptoms via clinical synopsis from OMIM:

57
Heme:
acute lymphoblastic leukemia (all)
lymphomatous all (lall)
t-cell all

Lab:
chromosome loss of bands 9p22-p21 by deletion, unbalanced translocation, or loss of entire chromosome
loss of methylthioadenosine phosphorylase in malignant cells during relapse

Misc:
bulky disease of lymph nodes, spleen, and mediastinum


Clinical features from OMIM:

247640

Human phenotypes related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features:

32
# Description HPO Frequency HPO Source Accession
1 lymphoma 32 HP:0002665
2 t-cell acute lymphoblastic leukemias 32 HP:0006727

GenomeRNAi Phenotypes related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features according to GeneCards Suite gene sharing:

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10 FGFR1 ABL1
2 Decreased viability GR00221-A-2 10 FGFR1 JAK1 JAK2 ABL1
3 Decreased viability GR00221-A-3 10 ABL1
4 Decreased viability GR00342-S-1 10 ABL1
5 Decreased viability GR00342-S-2 10 ABL1
6 Decreased viability GR00342-S-3 10 ABL1
7 Decreased viability GR00402-S-2 10 FGFR1 JAK1 JAK2 ABL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.87 ABL1 FGFR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 JAK3 ABL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 JAK3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.87 ABL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.87 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.87 FGFR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.87 IL7R
15 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.87 JAK3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.87 ABL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.87 IL7R
18 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.87 ABL1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.87 FGFR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.87 FGFR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.87 IL7R
22 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.87 JAK3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.87 IL7R
24 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.87 IL7R
25 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.87 ABL1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.87 ABL1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.87 IL7R JAK3 ABL1 FGFR1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.87 ABL1 FGFR1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.87 FGFR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.87 JAK3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 FGFR1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.87 ABL1 FGFR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 JAK3 ABL1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.87 JAK3
35 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.56 ABL1 FGFR1 JAK1 JAK3
36 Decreased viability in HMC1.1 cells GR00105-A-0 8.96 JAK1 JAK3

MGI Mouse Phenotypes related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 ABL1 CRLF2 FGFR1 IL7R INSL6 JAK2
2 endocrine/exocrine gland MP:0005379 9.76 ABL1 CRLF2 FGFR1 IL7R INSL6 JAK1
3 hematopoietic system MP:0005397 9.56 JAK2 JAK3 NT5C2 ABL1 CRLF2 FGFR1
4 immune system MP:0005387 9.17 ABL1 CRLF2 FGFR1 IL7R JAK1 JAK2

Drugs & Therapeutics for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Search Clinical Trials , NIH Clinical Center for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Genetic Tests for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Genetic tests related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features:

# Genetic test Affiliating Genes
1 Lymphoblastic Leukemia, Acute, with Lymphomatous Features 29

Anatomical Context for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

MalaCards organs/tissues related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features:

41
T Cells, Lymph Node, Spleen, Myeloid

Publications for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Articles related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features:

# Title Authors Year
1
Molecular analysis of the CALM/AF10 fusion: identical rearrangements in acute myeloid leukemia, acute lymphoblastic leukemia and malignant lymphoma patients. ( 10637482 )
2000
2
Expression of MDR1 gene in acute leukemia cells: association with CD7+ acute myeloblastic leukemia/acute lymphoblastic leukemia. ( 7694687 )
1993

Variations for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

ClinVar genetic disease variations for Lymphoblastic Leukemia, Acute, with Lymphomatous Features:

6
(show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABL1 NM_007313.2(ABL1): c.1001C> T (p.Thr334Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913459 GRCh37 Chromosome 9, 133748283: 133748283
2 ABL1 NM_007313.2(ABL1): c.1001C> T (p.Thr334Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913459 GRCh38 Chromosome 9, 130872896: 130872896
3 ABL1 NM_007313.2(ABL1): c.814T> C (p.Tyr272His) single nucleotide variant Pathogenic/Likely pathogenic rs121913461 GRCh37 Chromosome 9, 133738357: 133738357
4 ABL1 NM_007313.2(ABL1): c.814T> C (p.Tyr272His) single nucleotide variant Pathogenic/Likely pathogenic rs121913461 GRCh38 Chromosome 9, 130862970: 130862970
5 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh37 Chromosome 8, 38272308: 38272308
6 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh38 Chromosome 8, 38414790: 38414790
7 JAK1 NM_002227.3(JAK1): c.1901C> A (p.Ala634Asp) single nucleotide variant Likely pathogenic rs869312953 GRCh37 Chromosome 1, 65312418: 65312418
8 JAK1 NM_002227.3(JAK1): c.1901C> A (p.Ala634Asp) single nucleotide variant Likely pathogenic rs869312953 GRCh38 Chromosome 1, 64846735: 64846735
9 INSL6; JAK2 NM_004972.3(JAK2): c.2047A> G (p.Arg683Gly) single nucleotide variant Pathogenic/Likely pathogenic rs1057519721 GRCh37 Chromosome 9, 5078360: 5078360
10 INSL6; JAK2 NM_004972.3(JAK2): c.2047A> G (p.Arg683Gly) single nucleotide variant Pathogenic/Likely pathogenic rs1057519721 GRCh38 Chromosome 9, 5078360: 5078360
11 INSL6; JAK2 NM_004972.3(JAK2): c.2048G> C (p.Arg683Thr) single nucleotide variant Pathogenic rs1057519722 GRCh37 Chromosome 9, 5078361: 5078361
12 INSL6; JAK2 NM_004972.3(JAK2): c.2048G> C (p.Arg683Thr) single nucleotide variant Pathogenic rs1057519722 GRCh38 Chromosome 9, 5078361: 5078361
13 INSL6; JAK2 NM_004972.3(JAK2): c.2049A> C (p.Arg683Ser) single nucleotide variant Pathogenic rs1057519723 GRCh37 Chromosome 9, 5078362: 5078362
14 INSL6; JAK2 NM_004972.3(JAK2): c.2049A> C (p.Arg683Ser) single nucleotide variant Pathogenic rs1057519723 GRCh38 Chromosome 9, 5078362: 5078362
15 INSL6; JAK2 NM_004972.3(JAK2): c.2049A> T (p.Arg683Ser) single nucleotide variant Pathogenic rs1057519723 GRCh37 Chromosome 9, 5078362: 5078362
16 INSL6; JAK2 NM_004972.3(JAK2): c.2049A> T (p.Arg683Ser) single nucleotide variant Pathogenic rs1057519723 GRCh38 Chromosome 9, 5078362: 5078362
17 CRLF2 NM_022148.3(CRLF2): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic rs1057519743 GRCh37 Chromosome X, 1314966: 1314966
18 CRLF2 NM_022148.3(CRLF2): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic rs1057519743 GRCh38 Chromosome X, 1196852: 1196852
19 CRLF2 NM_022148.3(CRLF2): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic rs1057519743 GRCh38 Chromosome Y, 1196852: 1196852
20 JAK1 NM_002227.3(JAK1): c.1972G> T (p.Val658Phe) single nucleotide variant Likely pathogenic rs1057519753 GRCh37 Chromosome 1, 65312347: 65312347
21 JAK1 NM_002227.3(JAK1): c.1972G> T (p.Val658Phe) single nucleotide variant Likely pathogenic rs1057519753 GRCh38 Chromosome 1, 64846664: 64846664
22 IL7R NM_002185.4(IL7R): c.553A> T (p.Ser185Cys) single nucleotide variant Likely pathogenic rs1057519759 GRCh37 Chromosome 5, 35873597: 35873597
23 IL7R NM_002185.4(IL7R): c.553A> T (p.Ser185Cys) single nucleotide variant Likely pathogenic rs1057519759 GRCh38 Chromosome 5, 35873495: 35873495
24 JAK1 NM_002227.3(JAK1): c.1937C> T (p.Ser646Phe) single nucleotide variant Likely pathogenic rs151047872 GRCh37 Chromosome 1, 65312382: 65312382
25 JAK1 NM_002227.3(JAK1): c.1937C> T (p.Ser646Phe) single nucleotide variant Likely pathogenic rs151047872 GRCh38 Chromosome 1, 64846699: 64846699
26 NT5C2 NM_012229.4(NT5C2): c.1075A> C (p.Lys359Gln) single nucleotide variant not provided rs1057519867 GRCh37 Chromosome 10, 104852980: 104852980
27 NT5C2 NM_012229.4(NT5C2): c.1075A> C (p.Lys359Gln) single nucleotide variant not provided rs1057519867 GRCh38 Chromosome 10, 103093223: 103093223
28 FGFR1 NM_023110.2(FGFR1): c.1968G> C (p.Lys656Asn) single nucleotide variant Likely pathogenic rs1057519897 GRCh37 Chromosome 8, 38272306: 38272306
29 FGFR1 NM_023110.2(FGFR1): c.1968G> C (p.Lys656Asn) single nucleotide variant Likely pathogenic rs1057519897 GRCh38 Chromosome 8, 38414788: 38414788

Expression for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Search GEO for disease gene expression data for Lymphoblastic Leukemia, Acute, with Lymphomatous Features.

Pathways for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Pathways related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 FGFR1 IL7R JAK1 JAK2 JAK3
2
Show member pathways
13.21 FGFR1 IL7R JAK1 JAK2 JAK3
3
Show member pathways
13.15 FGFR1 IL7R JAK1 JAK2 JAK3
4
Show member pathways
12.72 FGFR1 IL7R JAK1 JAK2 JAK3
5
Show member pathways
12.71 IL7R JAK1 JAK2 JAK3
6
Show member pathways
12.67 FGFR1 JAK1 JAK2 JAK3
7
Show member pathways
12.55 FGFR1 JAK1 JAK2 JAK3
8 12.45 ABL1 FGFR1 IL7R JAK1 JAK2 JAK3
9
Show member pathways
12.32 CRLF2 IL7R JAK1 JAK2 JAK3
10
Show member pathways
12.28 JAK1 JAK2 JAK3
11
Show member pathways
12.27 JAK1 JAK2 JAK3
12
Show member pathways
12.22 JAK1 JAK2 JAK3
13
Show member pathways
12.09 JAK1 JAK2 JAK3
14
Show member pathways
12.08 JAK1 JAK2 JAK3
15
Show member pathways
12.04 JAK1 JAK2 JAK3
16
Show member pathways
12.02 JAK1 JAK2 JAK3
17 12 ABL1 JAK1 JAK2
18 11.98 FGFR1 IL7R JAK1
19
Show member pathways
11.97 JAK1 JAK2 JAK3
20
Show member pathways
11.96 JAK1 JAK2 JAK3
21 11.93 ABL1 FGFR1 JAK2
22
Show member pathways
11.87 JAK1 JAK2 JAK3
23 11.85 FGFR1 JAK1 JAK2 JAK3
24
Show member pathways
11.84 FGFR1 IL7R JAK1 JAK2
25 11.77 JAK1 JAK2 JAK3
26
Show member pathways
11.76 JAK1 JAK2 JAK3
27
Show member pathways
11.65 JAK1 JAK2 JAK3
28 11.45 JAK1 JAK2 JAK3
29 11.33 JAK1 JAK2
30
Show member pathways
11.3 JAK1 JAK2
31
Show member pathways
11.3 IL7R JAK1 JAK3
32
Show member pathways
11.29 JAK1 JAK3
33
Show member pathways
11.25 JAK1 JAK2
34 11.22 IL7R JAK3
35 11.22 JAK1 JAK2
36 11.21 JAK1 JAK2 JAK3
37 11.13 CRLF2 IL7R JAK1 JAK2
38 10.99 IL7R JAK1 JAK3
39 10.97 ABL1 IL7R JAK1 JAK2 JAK3
40 10.92 CRLF2 JAK1 JAK2 JAK3
41 10.88 JAK1 JAK2

GO Terms for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

Cellular components related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endomembrane system GO:0012505 9.13 JAK1 JAK2 JAK3
2 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 8.92 ABL1 JAK1 JAK2 JAK3

Biological processes related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.94 ABL1 JAK1 JAK2 JAK3
2 positive regulation of cell proliferation GO:0008284 9.93 CRLF2 FGFR1 IL7R JAK2
3 protein phosphorylation GO:0006468 9.91 ABL1 FGFR1 JAK1 JAK2 JAK3
4 MAPK cascade GO:0000165 9.83 FGFR1 JAK1 JAK2 JAK3
5 phosphorylation GO:0016310 9.8 ABL1 FGFR1 JAK1 JAK2 JAK3 NT5C2
6 cell migration GO:0016477 9.78 FGFR1 JAK1 JAK2 JAK3
7 protein autophosphorylation GO:0046777 9.73 ABL1 FGFR1 JAK1 JAK2
8 peptidyl-tyrosine phosphorylation GO:0018108 9.71 ABL1 FGFR1 JAK2 JAK3
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.67 ABL1 JAK1 JAK2 JAK3
10 interleukin-12-mediated signaling pathway GO:0035722 9.66 JAK1 JAK2
11 regulation of cell adhesion GO:0030155 9.66 ABL1 JAK2
12 erythrocyte differentiation GO:0030218 9.65 JAK2 JAK3
13 B cell proliferation GO:0042100 9.65 ABL1 IL7R
14 platelet-derived growth factor receptor signaling pathway GO:0048008 9.65 ABL1 JAK2
15 cytokine-mediated signaling pathway GO:0019221 9.65 CRLF2 IL7R JAK1 JAK2 JAK3
16 response to antibiotic GO:0046677 9.64 JAK1 JAK2
17 interleukin-6-mediated signaling pathway GO:0070102 9.62 JAK1 JAK2
18 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.62 JAK2 JAK3
19 negative regulation of cell-cell adhesion GO:0022408 9.61 ABL1 JAK2
20 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.61 JAK1 JAK2
21 interleukin-15-mediated signaling pathway GO:0035723 9.6 JAK1 JAK3
22 enzyme linked receptor protein signaling pathway GO:0007167 9.59 JAK2 JAK3
23 interleukin-27-mediated signaling pathway GO:0070106 9.58 JAK1 JAK2
24 interleukin-2-mediated signaling pathway GO:0038110 9.58 JAK1 JAK3
25 interleukin-35-mediated signaling pathway GO:0070757 9.57 JAK1 JAK2
26 regulation of JAK-STAT cascade GO:0046425 9.56 JAK2 JAK3
27 tyrosine phosphorylation of STAT protein GO:0007260 9.55 JAK2 JAK3
28 regulation of cell proliferation GO:0042127 9.55 ABL1 FGFR1 JAK1 JAK2 JAK3
29 interleukin-21-mediated signaling pathway GO:0038114 9.54 JAK1 JAK3
30 interleukin-9-mediated signaling pathway GO:0038113 9.49 JAK1 JAK3
31 positive regulation of STAT cascade GO:1904894 9.46 CRLF2 IL7R
32 peptidyl-tyrosine autophosphorylation GO:0038083 9.26 ABL1 JAK1 JAK2 JAK3
33 interleukin-7-mediated signaling pathway GO:0038111 8.92 CRLF2 IL7R JAK1 JAK3
34 cell differentiation GO:0030154 10.03 ABL1 FGFR1 JAK1 JAK2 JAK3

Molecular functions related to Lymphoblastic Leukemia, Acute, with Lymphomatous Features according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.89 ABL1 FGFR1 JAK1 JAK2 JAK3
2 kinase activity GO:0016301 9.8 ABL1 FGFR1 JAK1 JAK2 JAK3
3 signaling receptor binding GO:0005102 9.73 ABL1 JAK1 JAK2 JAK3
4 protein kinase activity GO:0004672 9.72 ABL1 FGFR1 JAK1 JAK2 JAK3
5 nucleotide binding GO:0000166 9.65 FGFR1 JAK1 JAK2 JAK3 NT5C2
6 cytokine receptor activity GO:0004896 9.48 CRLF2 IL7R
7 SH2 domain binding GO:0042169 9.46 ABL1 JAK2
8 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.46 FGFR1 JAK1 JAK2 JAK3
9 growth hormone receptor binding GO:0005131 9.37 JAK1 JAK2
10 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.26 ABL1 JAK1 JAK2 JAK3
11 protein tyrosine kinase activity GO:0004713 9.02 ABL1 FGFR1 JAK1 JAK2 JAK3

Sources for Lymphoblastic Leukemia, Acute, with Lymphomatous Features

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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