ALL3
MCID: LKM060
MIFTS: 48

Leukemia, Acute Lymphoblastic 3 (ALL3)

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

Aliases & Classifications for Leukemia, Acute Lymphoblastic 3

MalaCards integrated aliases for Leukemia, Acute Lymphoblastic 3:

Name: Leukemia, Acute Lymphoblastic 3 57
Leukemia, Acute Lymphoblastic, Susceptibility to, 3 57 29 6 40 73
B-All 59 55
Precursor B-Cell Acute Lymphoblastic Leukemia/lymphoma 59
Precursor B-Cell Acute Lymphocytic Leukemia/lymphoma 59
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 73
Precursor B-Cell Acute Lymphoblastic Leukemia 59
Precursor B-Cell Acute Lymphocytic Leukemia 59
Precursor B-Cell Lymphoblastic Leukemia 73
Burkitt Lymphoma 73
All3 57

Classifications:



External Ids:

OMIM 57 615545
Orphanet 59 ORPHA99860
ICD10 via Orphanet 34 C91.0 C83.5
UMLS via Orphanet 74 C0006413 C1292769
MedGen 42 C3809874

Summaries for Leukemia, Acute Lymphoblastic 3

MalaCards based summary : Leukemia, Acute Lymphoblastic 3, also known as leukemia, acute lymphoblastic, susceptibility to, 3, is related to leukemia, acute lymphoblastic and lymphocytic leukemia, and has symptoms including bone pain An important gene associated with Leukemia, Acute Lymphoblastic 3 is PAX5 (Paired Box 5), and among its related pathways/superpathways are Endometrial cancer and NF-kappaB Signaling. Affiliated tissues include b cells, bone and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Description from OMIM: 615545

Related Diseases for Leukemia, Acute Lymphoblastic 3

Diseases in the Leukemia, Acute Lymphoblastic family:

Leukemia, Acute Lymphoblastic 2 Leukemia, Acute Lymphoblastic 3

Diseases related to Leukemia, Acute Lymphoblastic 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 leukemia, acute lymphoblastic 32.9 ABL1 AFF1 BCR ETV6 FLT3 IGH
2 lymphocytic leukemia 31.6 BCR ETV6 KMT2A PAX5 RUNX1 TP53
3 leukemia 31.3 ABL1 BCR ETV6 FLT3 HLF PBX1
4 acute lymphocytic leukemia 31.0 BCR CDKN2A ETV6 PAX5 RUNX1 TP53
5 myeloproliferative neoplasm 30.5 ABL1 BCR PDGFRA
6 myelodysplastic syndrome 30.3 ABL1 ETV6 FLT3 KMT2A RUNX1 TP53
7 acute leukemia 30.2 AFF1 ETV6 FLT3 KMT2A PAX5 RUNX1
8 b-cell lymphomas 29.7 CDKN2A FOXP1 PAX5 TP53
9 precursor t-cell acute lymphoblastic leukemia 29.6 ABL1 BCR CDKN2A ETV6 FLT3 IGH
10 sarcoma 10.3
11 histiocytic sarcoma 10.3
12 ring chromosome 21 10.3 ETV6 KMT2A
13 philadelphia-negative chronic myeloid leukemia 10.3 ABL1 BCR
14 primary hypereosinophilic syndrome 10.3 ETV6 PDGFRA
15 lymphoid leukemia 10.3 ETV6 FLT3 KMT2A
16 b-cell adult acute lymphocytic leukemia 10.3 ABL1 PAX5 PBX1
17 myeloid sarcoma 10.3 FLT3 KMT2A PAX5
18 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.3 FLT3 RUNX1
19 loeffler endocarditis 10.3 ETV6 PDGFRA
20 b-cell childhood acute lymphoblastic leukemia 10.3 ETV6 RUNX1
21 chronic eosinophilic leukemia 10.3 ABL1 FLT3 PDGFRA
22 inverted transitional papilloma 10.3 CDKN2A GATA3
23 cellular neurofibroma 10.3 ABL1 TP53
24 hemophagocytic lymphohistiocytosis 10.3
25 lymphoblastic lymphoma 10.3
26 lymphoma 10.3
27 acute lymphoblastic leukemia, childhood 10.2 CDKN2A ETV6 RUNX1
28 8p11 myeloproliferative syndrome 10.2 BCR FLT3 RUNX1
29 atypical chronic myeloid leukemia 10.2 ABL1 PDGFRA RUNX1
30 cytogenetically normal acute myeloid leukemia 10.2 FLT3 KMT2A
31 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.2 ETV6 FLT3 KMT2A RUNX1
32 supratentorial cancer 10.2 CDKN2A PDGFRA TP53
33 cerebrum cancer 10.2 CDKN2A PDGFRA TP53
34 bartholin's duct cyst 10.2 GATA3 TP53
35 bladder squamous cell carcinoma 10.2 CDKN2A TP53
36 small cell carcinoma 10.2 CDKN2A PDGFRA TP53
37 central nervous system lymphoma 10.2 CDKN2A FOXP1 TP53
38 bartholin's gland disease 10.2 CDKN2A GATA3 TP53
39 grade iii astrocytoma 10.2 CDKN2A PDGFRA TP53
40 keratinizing squamous cell carcinoma 10.2 CDKN2A TP53
41 mantle cell lymphoma 10.2 CDKN2A IGH PAX5 TP53
42 chronic myelomonocytic leukemia 10.2 ETV6 FLT3 RUNX1
43 malignant peripheral nerve sheath tumor 10.2 CDKN2A PDGFRA TP53
44 spitz nevus 10.2 CDKN2A TP53
45 gastrointestinal system cancer 10.2 CDKN2A PDGFRA TP53
46 lymphoma, non-hodgkin, familial 10.1 BCR IGH PAX5 TP53
47 gastrointestinal stromal tumor 10.1 ABL1 CDKN2A FLT3 PDGFRA TP53
48 leukemia, acute monocytic 10.1
49 myasthenia gravis 10.1
50 myelofibrosis 10.1

Graphical network of the top 20 diseases related to Leukemia, Acute Lymphoblastic 3:



Diseases related to Leukemia, Acute Lymphoblastic 3

Symptoms & Phenotypes for Leukemia, Acute Lymphoblastic 3

Clinical features from OMIM:

615545

UMLS symptoms related to Leukemia, Acute Lymphoblastic 3:


bone pain

GenomeRNAi Phenotypes related to Leukemia, Acute Lymphoblastic 3 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.99 BCR
2 Decreased viability GR00173-A 9.99 FLT3 PDGFRA
3 Decreased viability GR00221-A-1 9.99 ABL1 CDKN2A FLT3 PDGFRA PIP4K2A
4 Decreased viability GR00221-A-2 9.99 ABL1 BCR
5 Decreased viability GR00221-A-3 9.99 ABL1 CDKN2A PDGFRA
6 Decreased viability GR00221-A-4 9.99 CDKN2A FLT3 PDGFRA PIP4K2A BCR
7 Decreased viability GR00301-A 9.99 PIP4K2A BCR
8 Decreased viability GR00342-S-1 9.99 ABL1
9 Decreased viability GR00342-S-2 9.99 ABL1
10 Decreased viability GR00342-S-3 9.99 ABL1 BCR
11 Decreased viability GR00402-S-2 9.99 ABL1 CDKN2A FLT3 PDGFRA PIP4K2A BCR

MGI Mouse Phenotypes related to Leukemia, Acute Lymphoblastic 3:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 ABL1 AFF1 AUTS2 BCR CDKN2A ETV6
2 cellular MP:0005384 10.44 ABL1 AUTS2 BCR CDKN2A ETV6 FLT3
3 behavior/neurological MP:0005386 10.38 ABL1 AFF1 AUTS2 BCR CDKN2A HLF
4 hematopoietic system MP:0005397 10.37 ABL1 AFF1 BCR CDKN2A ETV6 FLT3
5 mortality/aging MP:0010768 10.36 ABL1 AFF1 AUTS2 BCR CDKN2A ETV6
6 cardiovascular system MP:0005385 10.34 ABL1 AUTS2 CDKN2A ETV6 GATA3 HLF
7 endocrine/exocrine gland MP:0005379 10.34 ABL1 AFF1 AUTS2 CDKN2A ETV6 FLT3
8 immune system MP:0005387 10.34 ABL1 AFF1 BCR CDKN2A ETV6 FLT3
9 homeostasis/metabolism MP:0005376 10.32 ABL1 BCR CDKN2A ETV6 FLT3 GATA3
10 embryo MP:0005380 10.31 ABL1 AUTS2 CDKN2A ETV6 GATA3 KMT2A
11 digestive/alimentary MP:0005381 10.18 ABL1 BCR CDKN2A ETV6 GATA3 PBX1
12 nervous system MP:0003631 10.17 ABL1 AFF1 AUTS2 BCR CDKN2A GATA3
13 liver/biliary system MP:0005370 10.16 ABL1 AUTS2 BCR CDKN2A HLF KMT2A
14 craniofacial MP:0005382 10.13 ABL1 GATA3 KMT2A PAX5 PBX1 PDGFRA
15 neoplasm MP:0002006 10.11 AUTS2 CDKN2A ETV6 FLT3 KMT2A PAX5
16 integument MP:0010771 10.08 CDKN2A ETV6 GATA3 KMT2A PBX1 PDGFRA
17 no phenotypic analysis MP:0003012 10.03 AFF1 AUTS2 CDKN2A ETV6 FLT3 GATA3
18 hearing/vestibular/ear MP:0005377 10.01 BCR GATA3 KMT2A PAX5 PBX1 TP53
19 normal MP:0002873 9.97 ABL1 BCR ETV6 GATA3 HLF KMT2A
20 muscle MP:0005369 9.95 ABL1 CDKN2A GATA3 KMT2A PBX1 PDGFRA
21 renal/urinary system MP:0005367 9.5 BCR GATA3 KMT2A PBX1 PDGFRA TCF3
22 skeleton MP:0005390 9.32 ABL1 CDKN2A FLT3 GATA3 KMT2A PAX5

Drugs & Therapeutics for Leukemia, Acute Lymphoblastic 3

Search Clinical Trials , NIH Clinical Center for Leukemia, Acute Lymphoblastic 3

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Leukemia, Acute Lymphoblastic 3

Genetic tests related to Leukemia, Acute Lymphoblastic 3:

# Genetic test Affiliating Genes
1 Leukemia, Acute Lymphoblastic, Susceptibility to, 3 29 PAX5

Anatomical Context for Leukemia, Acute Lymphoblastic 3

MalaCards organs/tissues related to Leukemia, Acute Lymphoblastic 3:

41
B Cells, Bone, Bone Marrow, Colon, T Cells, Myeloid, Monocytes

Publications for Leukemia, Acute Lymphoblastic 3

Articles related to Leukemia, Acute Lymphoblastic 3:

# Title Authors Year
1
Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma with L3 Morphology, Philadelphia Chromosome, MYC Gene Translocation, and Coexpression of TdT and Surface Light Chains: A Case Report. ( 23533894 )
2013

Variations for Leukemia, Acute Lymphoblastic 3

ClinVar genetic disease variations for Leukemia, Acute Lymphoblastic 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX5 NM_001280547.1(PAX5): c.547G> A (p.Gly183Ser) single nucleotide variant risk factor rs398123063 GRCh37 Chromosome 9, 37002702: 37002702
2 PAX5 NM_001280547.1(PAX5): c.547G> A (p.Gly183Ser) single nucleotide variant risk factor rs398123063 GRCh38 Chromosome 9, 37002705: 37002705
3 PAX5 NM_016734.2(PAX5): c.1013-1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 36846927: 36846927
4 PAX5 NM_016734.2(PAX5): c.1013-1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 36846930: 36846930

Expression for Leukemia, Acute Lymphoblastic 3

Search GEO for disease gene expression data for Leukemia, Acute Lymphoblastic 3.

Pathways for Leukemia, Acute Lymphoblastic 3

Pathways related to Leukemia, Acute Lymphoblastic 3 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 ABL1 BCR CDKN2A FLT3 PDGFRA RUNX1
2 12.37 GATA3 PAX5 PBX1 RUNX1 TCF3
3 12.31 ABL1 CDKN2A FOXP1 PDGFRA TP53
4 12.22 ABL1 BCR CDKN2A FLT3 PDGFRA RUNX1
5 12.17 CDKN2A HLA-C PDGFRA TCF3 TP53
6 11.95 ABL1 BCR FLT3 PDGFRA
7 11.75 CDKN2A KMT2A TP53
8 11.75 CDKN2A PDGFRA TCF3 TP53
9 11.63 GATA3 PBX1 TP53
10
Show member pathways
11.59 ABL1 BCR PDGFRA
11 11.55 AFF1 ETV6 FLT3 KMT2A PAX5 PBX1
12 11.5 FLT3 PDGFRA TP53
13 11.38 CDKN2A PDGFRA TP53
14 10.84 ABL1 CDKN2A TP53
15
Show member pathways
10.78 ABL1 CDKN2A TP53

GO Terms for Leukemia, Acute Lymphoblastic 3

Cellular components related to Leukemia, Acute Lymphoblastic 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 ABL1 CDKN2A FOXP1 GATA3 KMT2A PAX5
2 nucleus GO:0005634 9.55 ABL1 AFF1 AUTS2 CDKN2A ETV6 FLT3

Biological processes related to Leukemia, Acute Lymphoblastic 3 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 ABL1 ETV6 FLT3 PAX5 PBX1 PDGFRA
2 positive regulation of transcription, DNA-templated GO:0045893 9.95 CDKN2A GATA3 KMT2A RUNX1 TCF3 TP53
3 regulation of transcription, DNA-templated GO:0006355 9.93 ABL1 AFF1 ETV6 FOXP1 GATA3 HLF
4 transcription by RNA polymerase II GO:0006366 9.86 ETV6 GATA3 HLF KMT2A PAX5 PBX1
5 peptidyl-tyrosine phosphorylation GO:0018108 9.83 ABL1 BCR FLT3 PDGFRA
6 protein autophosphorylation GO:0046777 9.8 ABL1 BCR FLT3 PDGFRA
7 animal organ morphogenesis GO:0009887 9.73 GATA3 PAX5 PBX1 PDGFRA
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.7 AUTS2 CDKN2A ETV6 GATA3 HLF KMT2A
9 positive regulation of endothelial cell migration GO:0010595 9.69 ABL1 FOXP1 GATA3
10 thymus development GO:0048538 9.63 ABL1 GATA3 PBX1
11 regulation of actin cytoskeleton reorganization GO:2000249 9.6 ABL1 PDGFRA
12 positive regulation of histone H3-K4 methylation GO:0051571 9.59 AUTS2 KMT2A
13 hematopoietic stem cell proliferation GO:0071425 9.58 ETV6 RUNX1
14 replicative senescence GO:0090399 9.58 CDKN2A TP53
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.58 ABL1 BCR PDGFRA
16 cell activation GO:0001775 9.57 GATA3 PDGFRA
17 regulation of B cell receptor signaling pathway GO:0050855 9.56 PAX5 RUNX1
18 negative regulation of ubiquitin-protein transferase activity GO:0051444 9.54 ABL1 CDKN2A
19 embryonic hemopoiesis GO:0035162 9.5 GATA3 KMT2A PBX1
20 regulation of hematopoietic stem cell differentiation GO:1902036 9.02 ABL1 GATA3 KMT2A RUNX1 TCF3
21 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 ETV6 GATA3 PAX5 RUNX1 TCF3 TP53

Molecular functions related to Leukemia, Acute Lymphoblastic 3 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.96 ETV6 FOXP1 GATA3 HLF KMT2A PAX5
2 transcription regulatory region DNA binding GO:0044212 9.8 GATA3 KMT2A RUNX1 TP53
3 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.77 ETV6 GATA3 HLF PAX5 PBX1
4 DNA binding GO:0003677 9.73 ABL1 CDKN2A ETV6 FOXP1 GATA3 HLF
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.72 ETV6 GATA3 HLF PBX1 RUNX1
6 protein tyrosine kinase activity GO:0004713 9.71 ABL1 BCR FLT3 PDGFRA
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.7 ETV6 GATA3 PAX5 PBX1 RUNX1 TCF3
8 protein self-association GO:0043621 9.61 FLT3 FOXP1 TP53
9 vascular endothelial growth factor-activated receptor activity GO:0005021 9.46 FLT3 PDGFRA
10 DNA-binding transcription factor activity GO:0003700 9.36 AFF1 ETV6 FOXP1 GATA3 HLF KMT2A
11 protein binding GO:0005515 10.41 ABL1 AFF1 AUTS2 BCR CDKN2A ETV6

Sources for Leukemia, Acute Lymphoblastic 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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