MCID: BLY005
MIFTS: 30

B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

Categories: Blood diseases, Cancer diseases, Immune diseases, Rare 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 58 15
B Lymphoblastic Leukemia Lymphoma with Hyperdiploidy 6
B-All with Hyperdiploidy 12

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0080646
NCIt 50 C80335
Orphanet 58 ORPHA585936

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 Gastric cancer and Pathways in cancer. Affiliated tissues include breast, b lymphoblasts and ovary, and related phenotypes are Decreased viability with cisplatin and Synthetic lethal with cisplatin

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 67)
# Related Disease Score Top Affiliating Genes
1 anaplastic/large cell medulloblastoma 10.2 BRCA2 ALK
2 large cell medulloblastoma 10.2 BRCA2 ALK
3 fallopian tube clear cell adenocarcinoma 10.1 BRCA2 BRCA1
4 ovary transitional cell carcinoma 10.1 BRCA2 BRCA1
5 basaloid lung carcinoma 10.1 BRCA2 BRCA1
6 cancerophobia 10.1 BRCA2 BRCA1
7 nosophobia 10.1 BRCA2 BRCA1
8 tetraploidy 10.1 BRCA2 BRCA1
9 ruvalcaba syndrome 10.1 BRCA2 BRCA1
10 hereditary site-specific ovarian cancer syndrome 10.1 BRCA2 BRCA1
11 breast-ovarian cancer, familial 2 10.1 BRCA2 BRCA1
12 intracystic papillary adenoma 10.1 BRCA2 BRCA1
13 endosalpingiosis 10.1 BRCA2 BRCA1
14 cervical adenoma malignum 10.1 BRCA2 BRCA1
15 mutagen sensitivity 10.1 BRCA2 BRCA1
16 primary peritoneal carcinoma 10.1 BRCA2 BRCA1
17 synchronous bilateral breast carcinoma 10.1 BRCA2 BRCA1
18 dysplastic nevus syndrome 10.1 BRCA2 BRCA1
19 hypertrophy of breast 10.1 BRCA2 BRCA1
20 familial ovarian cancer 10.1 BRCA2 BRCA1
21 female reproductive endometrioid cancer 10.1 BRCA2 BRCA1
22 peritoneum cancer 10.1 BRCA2 BRCA1
23 breast-ovarian cancer, familial 1 10.1 BRCA2 BRCA1
24 papillary serous adenocarcinoma 10.1 BRCA2 BRCA1
25 fallopian tube disease 10.1 BRCA2 BRCA1
26 hereditary nonpolyposis colon cancer 10.1 BRCA2 BRCA1
27 lobular neoplasia 10.1 BRCA2 BRCA1
28 thoracic benign neoplasm 10.1 BRCA2 BRCA1
29 breast benign neoplasm 10.1 BRCA2 BRCA1
30 familial colorectal cancer 10.1 BRCA2 APC
31 fanconi anemia, complementation group d1 10.1 BRCA2 BRCA1
32 b-lymphoblastic leukemia/lymphoma with hypodiploidy 10.1 PBX1 APC
33 fanconi anemia, complementation group j 10.1 BRCA2 BRCA1
34 ovarian cystadenocarcinoma 10.1 BRCA2 BRCA1
35 uterine corpus cancer 10.1 BRCA2 BRCA1
36 dysgerminoma 10.1 BRCA2 BRCA1
37 ganglioneuroblastoma 10.0 BRCA1 ALK
38 myasthenic syndrome, congenital, 6, presynaptic 10.0 BRCA2 BRCA1
39 papillary adenocarcinoma 10.0 BRCA2 BRCA1
40 bilateral breast cancer 10.0 BRCA2 BRCA1
41 fallopian tube carcinoma 10.0 BRCA2 BRCA1
42 female breast cancer 10.0 BRCA2 BRCA1
43 ovary adenocarcinoma 10.0 BRCA2 BRCA1
44 gastric cancer, hereditary diffuse 10.0 BRCA2 BRCA1
45 pre-malignant neoplasm 10.0 BRCA2 BRCA1
46 small cell carcinoma 10.0 BRCA2 ALK
47 serous cystadenocarcinoma 10.0 BRCA2 BRCA1
48 sporadic breast cancer 10.0 BRCA2 BRCA1
49 in situ carcinoma 9.9 BRCA2 BRCA1
50 brain cancer 9.9 BRCA2 APC ALK

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with cisplatin GR00101-A-4 9.16 BRCA1 BRCA2
2 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2
3 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 APC BRCA1 BRCA2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 ALK APC BRCA1 BRCA2 CBL PBX1
2 integument MP:0010771 9.88 ALK APC BRCA1 BRCA2 CBL PBX1
3 limbs/digits/tail MP:0005371 9.77 APC BRCA1 BRCA2 CBL PBX1
4 normal MP:0002873 9.65 ALK APC BRCA1 BRCA2 PBX1
5 neoplasm MP:0002006 9.62 ALK APC BRCA1 BRCA2
6 pigmentation MP:0001186 9.46 ALK APC BRCA1 CBL
7 reproductive system MP:0005389 9.43 ALK APC BRCA1 BRCA2 CBL PBX1
8 skeleton MP:0005390 9.1 ALK APC BRCA1 BRCA2 CBL PBX1

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
Breast, B Lymphoblasts, Ovary, Brain, Colon, Lung, Myeloid

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 Position
1 ALK NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) SNV Uncertain significance 576618 rs768366852 GRCh37: 2:29473981-29473981
GRCh38: 2:29251115-29251115
2 APC NM_000038.6(APC):c.682A>G (p.Ile228Val) SNV Uncertain significance 470063 rs1554074757 GRCh37: 5:112128179-112128179
GRCh38: 5:112792482-112792482
3 BRCA1 NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) SNV Uncertain significance 37420 rs41286294 GRCh37: 17:41246014-41246014
GRCh38: 17:43093997-43093997
4 BRCA2 NM_000059.3(BRCA2):c.5023T>C (p.Cys1675Arg) SNV Uncertain significance 184360 rs786201420 GRCh37: 13:32913515-32913515
GRCh38: 13:32339378-32339378
5 BRCA2 NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) SNV Uncertain significance 38005 rs80358822 GRCh37: 13:32914388-32914388
GRCh38: 13:32340251-32340251
6 CBL NM_005188.4(CBL):c.1676G>T (p.Arg559Leu) SNV Uncertain significance 503532 rs143034856 GRCh37: 11:119156011-119156011
GRCh38: 11:119285301-119285301
7 BRCA2 NM_000059.3(BRCA2):c.8708A>G (p.Glu2903Gly) SNV Uncertain significance 419320 rs730881566 GRCh37: 13:32950882-32950882
GRCh38: 13:32376745-32376745

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 BRCA2 BRCA1 APC
2 11.98 CBL BRCA2 APC ALK
3
Show member pathways
11.53 CBL BRCA2 BRCA1 ALK
4 10.99 CBL APC

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 12)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.67 TFPT BRCA2 BRCA1
2 protein deubiquitination GO:0016579 9.61 TFPT BRCA1 APC
3 brain development GO:0007420 9.58 PBX1 BRCA2 ALK
4 double-strand break repair GO:0006302 9.51 BRCA2 BRCA1
5 regulation of cell proliferation GO:0042127 9.5 PBX1 BRCA1 ALK
6 neuron development GO:0048666 9.48 PBX1 ALK
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.46 BRCA2 BRCA1
8 response to gamma radiation GO:0010332 9.37 CBL BRCA2
9 DNA recombination GO:0006310 9.33 TFPT BRCA2 BRCA1
10 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.26 BRCA2 BRCA1
11 cellular response to DNA damage stimulus GO:0006974 9.02 TFPT CBL BRCA2 BRCA1 APC
12 chordate embryonic development GO:0043009 8.96 BRCA2 BRCA1

Sources for B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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