MCID: BLY004
MIFTS: 21

B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Categories: Blood diseases, Cancer diseases, Immune diseases

Aliases & Classifications for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

MalaCards integrated aliases for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1:

Name: B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 12 15
B-Lymphoblastic Leukemia/lymphoma with T(12;21)(p13.2;q22.1); Etv6-Runx1 12
B Lymphoblastic Leukemia/lymphoma with T(12;21)(p13.2;q22.1); Etv6-Runx1 6
B-All with Etv6-Runx1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080645
NCIt 50 C80343

Summaries for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Disease Ontology : 12 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.

MalaCards based summary : B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1, also known as b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); etv6-runx1, is related to b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) and mental retardation, autosomal dominant 33. An important gene associated with B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Related phenotypes are hematopoietic system and immune system

Related Diseases for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Graphical network of the top 20 diseases related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1:



Diseases related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Symptoms & Phenotypes for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

MGI Mouse Phenotypes related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 ARID5B CEBPE EBF1 ETV6 LYL1 RECQL4
2 immune system MP:0005387 9.17 ARID5B CEBPE EBF1 ETV6 LYL1 RECQL4

Drugs & Therapeutics for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Search Clinical Trials , NIH Clinical Center for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Genetic Tests for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Anatomical Context for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Publications for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Articles related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1:

# Title Authors PMID Year
1
Heterogeneity of Abnormal RUNX1 Leading to Clinicopathologic Variations in Childhood B-Lymphoblastic Leukemia. 61
26185316 2015

Variations for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

ClinVar genetic disease variations for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RECQL4 NM_004260.3(RECQL4):c.1573del (p.Cys525fs) Deletion Pathogenic 6066 rs386833845 GRCh37: 8:145740367-145740367
GRCh38: 8:144514983-144514983
2 BMPR1A NM_004329.2(BMPR1A):c.1520A>G (p.Asn507Ser) SNV Uncertain significance 239857 rs750840234 GRCh37: 10:88683397-88683397
GRCh38: 10:86923640-86923640
3 APC NM_000038.6(APC):c.2476T>G (p.Leu826Val) SNV Uncertain significance 142010 rs145245264 GRCh37: 5:112173767-112173767
GRCh38: 5:112838070-112838070
4 PALB2 NM_024675.3(PALB2):c.2506G>C (p.Val836Leu) SNV Uncertain significance 231405 rs536644825 GRCh37: 16:23640969-23640969
GRCh38: 16:23629648-23629648
5 RB1 NM_000321.2(RB1):c.2558G>A (p.Cys853Tyr) SNV Uncertain significance 620619 rs1566240940 GRCh37: 13:49050874-49050874
GRCh38: 13:48476738-48476738

Expression for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Search GEO for disease gene expression data for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1.

Pathways for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Pathways related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 TLX1 LYL1 ETV6 CEBPE

GO Terms for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

Cellular components related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.1 ZNF280A TLX1 LYL1 ETV6 EBF1 CEBPE

Biological processes related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.43 ZNF280A TLX1 LYL1 ETV6 EBF1 CEBPE
2 regulation of transcription by RNA polymerase II GO:0006357 9.17 ZNF280A TLX1 LYL1 ETV6 EBF1 CEBPE

Molecular functions related to B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 ZNF280A TLX1 LYL1 ETV6 EBF1 CEBPE
2 DNA-binding transcription factor activity GO:0003700 9.56 TLX1 ETV6 EBF1 CEBPE
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 ZNF280A TLX1 LYL1 ETV6 EBF1 CEBPE
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.1 ZNF280A TLX1 LYL1 ETV6 EBF1 CEBPE

Sources for B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1

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
Content
Loading form....