MCID: LKM064
MIFTS: 45

Leukemia, Juvenile Myelomonocytic malady

Genetic diseases, Rare diseases, Cancer diseases, Blood diseases categories

Aliases & Classifications for Leukemia, Juvenile Myelomonocytic

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 30LifeMap Discovery®, 9Disease Ontology, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Leukemia, Juvenile Myelomonocytic, Aliases & Descriptions:

Name: Leukemia, Juvenile Myelomonocytic 45 10 41 30
Juvenile Myelomonocytic Leukemia 45 30 9 41 11 43 47 22 60
 
Juvenile Chronic Myelomonocytic Leukemia 41 47
Jmml 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
juvenile myelomonocytic leukemia:
Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy


External Ids:

OMIM45 607785
Disease Ontology9 DOID:0050458
MeSH33 D054429
Orphanet47 86834
MESH via Orphanet34 D054429
ICD10 via Orphanet26 C93.3
UMLS via Orphanet61 C0349639
ICD1025 C93.3

Summaries for Leukemia, Juvenile Myelomonocytic

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OMIM:45 Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder... (607785) more...

MalaCards based summary: Leukemia, Juvenile Myelomonocytic, also known as juvenile myelomonocytic leukemia, is related to chronic myelomonocytic leukemia and noonan syndrome 1, and has symptoms including somatic mutationand juvenile myelomonocytic leukemia. An important gene associated with Leukemia, Juvenile Myelomonocytic is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are pilocytic astrocytoma and FGF signaling pathway. The compounds imatinib and ag 1478 have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Related Diseases for Leukemia, Juvenile Myelomonocytic

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Diseases in the Acute Myelomonocytic Leukemia family:

leukemia, juvenile myelomonocytic Chronic Myelomonocytic Leukemia

Diseases related to Leukemia, Juvenile Myelomonocytic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1chronic myelomonocytic leukemia31.0PTPN11, NF1
2noonan syndrome 131.0PTPN11
3neurofibromatosis31.0KRAS, NF1, PTPN11
4myeloid leukemia30.7NF1, CBL, PTPN11
5myelodysplastic syndrome30.5PTPN11, NRAS, NF1, KRAS
6leukemia30.1PTPN11, CBL, NRAS, NF1, KRAS
7sarcoma29.9KRAS, NF1, NRAS
8hematopoietic stem cell transplantation10.8
9noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia10.6
10neurofibromatosis, type 110.6
11lymphoblastic leukemia10.5
12cytomegalovirus infection10.5
13noonan syndrome-like disorder with juvenile myelomonocytic leukemia10.5
14hemophagocytic lymphohistiocytosis10.5
15juvenile xanthogranuloma10.5
16cherubism10.4PTPN11
17leopard syndrome10.4PTPN11
18respiratory failure10.4
19cardiofaciocutaneous syndrome10.3KRAS
20pilocytic astrocytoma10.3NF1
21neurofibromatosis-noonan syndrome10.2NF1, PTPN11
22systemic lupus erythematosus10.2
23noonan syndrome 310.2
24wiskott-aldrich syndrome10.2
25moyamoya disease10.2
26biotinidase deficiency10.2
27pulmonary hypertension10.2
28bronchiolitis obliterans10.2
29lymphoblastic lymphoma10.2
30myelodysplastic myeloproliferative cancer10.2
31osteopetrosis10.2
32severe combined immunodeficiency10.2
33thalassemia10.2
34thrombocytopenia10.2
35langerhans-cell histiocytosis10.2
36bronchiolitis10.2
37diabetes insipidus10.2
38thrombotic thrombocytopenic purpura10.2
39tonsillitis10.2
40adenoiditis10.2
41diphtheria10.2
42down syndrome10.2
43cervicitis10.2
44histiocytosis10.2
45lupus erythematosus10.2
46purpura10.2
47hydrops fetalis10.2
48lupus nephritis10.2
49nephritis10.2
50costello syndrome10.2KRAS, PTPN11

Graphical network of the top 20 diseases related to Leukemia, Juvenile Myelomonocytic:



Diseases related to leukemia, juvenile myelomonocytic

Symptoms for Leukemia, Juvenile Myelomonocytic

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Clinical features from OMIM:

607785

HPO human phenotypes related to Leukemia, Juvenile Myelomonocytic:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 juvenile myelomonocytic leukemia HP:0012209

Drugs & Therapeutics for Leukemia, Juvenile Myelomonocytic

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Drug clinical trials:

Search ClinicalTrials for Leukemia, Juvenile Myelomonocytic

Search NIH Clinical Center for Leukemia, Juvenile Myelomonocytic

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Leukemia, Juvenile Myelomonocytic cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Leukemia, Juvenile Myelomonocytic:
Hemacord
Embryonic/Adult Cultured Cells Related to Leukemia, Juvenile Myelomonocytic:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Leukemia, Juvenile Myelomonocytic

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Genetic tests related to Leukemia, Juvenile Myelomonocytic:

id Genetic test Affiliating Genes
1 Juvenile Myelomonocytic Leukemia22

Anatomical Context for Leukemia, Juvenile Myelomonocytic

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Animal Models for Leukemia, Juvenile Myelomonocytic or affiliated genes

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MGI Mouse Phenotypes related to Leukemia, Juvenile Myelomonocytic:

35 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1NF1, CBL, PTPN11
2MP:00011868.9PTPN11, CBL, NF1, KRAS
3MP:00053888.8KRAS, NF1, CBL, PTPN11
4MP:00020068.8KRAS, NF1, NRAS, PTPN11
5MP:00053698.8PTPN11, CBL, NF1, KRAS
6MP:00053918.7KRAS, NF1, NRAS, PTPN11
7MP:00053798.7PTPN11, CBL, NF1, KRAS
8MP:00053808.5KRAS, NF1, NRAS, PTPN11
9MP:00053718.3KRAS, NF1, NRAS, CBL, PTPN11
10MP:00053708.3PTPN11, CBL, NRAS, NF1, KRAS
11MP:00107718.3KRAS, NF1, NRAS, CBL, PTPN11
12MP:00053858.3PTPN11, CBL, NRAS, NF1, KRAS
13MP:00053978.2PTPN11, CBL, NRAS, NF1, KRAS
14MP:00028738.2KRAS, NF1, NRAS, PTPN11
15MP:00053878.2PTPN11, CBL, NRAS, NF1, KRAS
16MP:00053848.2PTPN11, CBL, NRAS, NF1, KRAS
17MP:00053788.1KRAS, NF1, NRAS, CBL, PTPN11
18MP:00053767.9PTPN11, CBL, NRAS, NF1, KRAS

Publications for Leukemia, Juvenile Myelomonocytic

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Variations for Leukemia, Juvenile Myelomonocytic

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UniProtKB/Swiss-Prot genetic disease variations for Leukemia, Juvenile Myelomonocytic:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1ARHGAP26p.Asn417SerVAR_013623
2PTPN11p.Asp61ValVAR_015991
3PTPN11p.Asp61TyrVAR_015992
4PTPN11p.Glu69LysVAR_015993
5PTPN11p.Ala72ThrVAR_015996
6PTPN11p.Ala72ValVAR_015997
7PTPN11p.Glu76AlaVAR_015998
8PTPN11p.Glu76GlyVAR_015999
9PTPN11p.Glu76LysVAR_016000rs28933388
10PTPN11p.Glu76ValVAR_016001
11PTPN11p.Gly507AlaVAR_016002
12SETBP1p.Asp868AsnVAR_063807

Clinvar genetic disease variations for Leukemia, Juvenile Myelomonocytic:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1PTPN11NM_002834.3(PTPN11): c.218C> T (p.Thr73Ile)single nucleotide variantPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
2PTPN11NM_002834.3(PTPN11): c.226G> A (p.Glu76Lys)single nucleotide variantPathogenicrs121918464GRCh37Chr 12, 112888210: 112888210
3PTPN11NM_002834.3(PTPN11): c.227A> T (p.Glu76Val)single nucleotide variantPathogenicrs121918465GRCh37Chr 12, 112888211: 112888211
4PTPN11NM_002834.3(PTPN11): c.227A> G (p.Glu76Gly)single nucleotide variantPathogenicrs121918465GRCh37Chr 12, 112888211: 112888211
5PTPN11NM_002834.3(PTPN11): c.227A> C (p.Glu76Ala)single nucleotide variantPathogenicrs121918465GRCh37Chr 12, 112888211: 112888211
6NF1NM_000267.3(NF1): c.4614G> A (p.Trp1538Ter)single nucleotide variantPathogenicrs137854555GRCh37Chr 17, 29588828: 29588828
7NF1NF1, IVS34, G-A, +18single nucleotide variantPathogenic
8NF1NM_000267.3(NF1): c.1642-8A> Gsingle nucleotide variantPathogenicrs267606602GRCh37Chr 17, 29548860: 29548860
9ARHGAP26NM_015071.4(ARHGAP26): c.1250A> G (p.Asn417Ser)single nucleotide variantPathogenicrs121918546GRCh37Chr 5, 142421420: 142421420
10ARHGAP26ARHGAP26, 52-BP INSinsertionPathogenic
11ARHGAP26ARHGAP26, 74-BP INSinsertionPathogenic

Expression for genes affiliated with Leukemia, Juvenile Myelomonocytic

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Search GEO for disease gene expression data for Leukemia, Juvenile Myelomonocytic.

Pathways for genes affiliated with Leukemia, Juvenile Myelomonocytic

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Pathways related to Leukemia, Juvenile Myelomonocytic according to GeneCards Suite gene sharing:

(show top 50)    (show all 66)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6NF1, PTPN11
29.6CBL, PTPN11
3
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
9.6CBL, PTPN11
4
Show member pathways
Insulin Pathway36
9.6CBL, PTPN11
59.6CBL, PTPN11
6
Show member pathways
IL-2 Signaling pathway36
9.6CBL, PTPN11
79.6PTPN11, CBL
89.6PTPN11, CBL
99.3KRAS, NRAS
10
Show member pathways
EGFR-dependent Endothelin signaling events36
9.3KRAS, NRAS
11
Show member pathways
9.3KRAS, NRAS
129.3KRAS, NRAS
13
Show member pathways
9.3KRAS, NRAS
149.3KRAS, NRAS
15
Show member pathways
9.3KRAS, NRAS
169.1KRAS, CBL, PTPN11
17
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
9.1KRAS, CBL, PTPN11
189.1KRAS, CBL, PTPN11
19
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
9.0KRAS, NRAS, PTPN11
20
Show member pathways
9.0PTPN11, NRAS, KRAS
219.0PTPN11, NRAS, KRAS
22
Show member pathways
9.0PTPN11, NRAS, KRAS
23
Show member pathways
9.0KRAS, NRAS, PTPN11
24
Show member pathways
9.0KRAS, NRAS, PTPN11
25
Show member pathways
MAPK signaling pathway36
8.9NRAS, NF1, KRAS
268.8CBL, NRAS, KRAS
27
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.8CBL, NRAS, KRAS
28
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.8CBL, NRAS, KRAS
29
Show member pathways
8.8KRAS, NRAS, CBL
30
Show member pathways
Signal transduction PTEN pathway58
8.8KRAS, NRAS, CBL
31
Show member pathways
8.5KRAS, NF1, NRAS, PTPN11
328.4KRAS, NRAS, CBL, PTPN11
33
Show member pathways
8.4KRAS, NRAS, CBL, PTPN11
34
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.4KRAS, NRAS, CBL, PTPN11
35
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
8.4KRAS, NRAS, CBL, PTPN11
36
Show member pathways
8.4KRAS, NRAS, CBL, PTPN11
37
Show member pathways
Immune response CD16 signaling in NK cells58
8.4KRAS, NRAS, CBL, PTPN11
38
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
8.4PTPN11, CBL, NRAS, KRAS
39
Show member pathways
8.4PTPN11, CBL, NRAS, KRAS
408.4PTPN11, CBL, NRAS, KRAS
41
Show member pathways
8.4PTPN11, CBL, NRAS, KRAS
42
Show member pathways
8.4PTPN11, CBL, NRAS, KRAS
43
Show member pathways
8.4PTPN11, CBL, NRAS, KRAS
44
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.4PTPN11, CBL, NRAS, KRAS
45
Show member pathways
8.4PTPN11, CBL, NRAS, KRAS
468.4PTPN11, CBL, NRAS, KRAS
47
Show member pathways
8.4PTPN11, CBL, NRAS, KRAS
48
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
8.4PTPN11, CBL, NRAS, KRAS
49
Show member pathways
Signaling Pathways in Glioblastoma36
8.4CBL, NRAS, NF1, KRAS
50
Show member pathways
8.0PTPN11, CBL, NRAS, KRAS, ARHGAP26

Compounds for genes affiliated with Leukemia, Juvenile Myelomonocytic

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank
See all sources

Compounds related to Leukemia, Juvenile Myelomonocytic according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1imatinib43 49 1211.3KRAS, CBL, PTPN11
2ag 1478439.3PTPN11, CBL
3wortmannin439.2PTPN11, CBL, KRAS
4phosphoinositide439.2KRAS, CBL, PTPN11
5lysine439.1PTPN11, CBL, NF1
6h2o2439.1KRAS, CBL, PTPN11
7rapamycin438.9KRAS, NF1, CBL, PTPN11
8phosphatidylinositol438.8KRAS, NF1, CBL, PTPN11
9oligonucleotide438.7PTPN11, NRAS, NF1, KRAS
10lipid438.7KRAS, NF1, CBL, PTPN11
11serine438.5KRAS, NF1, CBL, PTPN11
12tyrosine438.2PTPN11, CBL, NRAS, NF1, KRAS

GO Terms for genes affiliated with Leukemia, Juvenile Myelomonocytic

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Biological processes related to Leukemia, Juvenile Myelomonocytic according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:00350229.6NRAS, KRAS
2striated muscle cell differentiationGO:00511469.5KRAS, NRAS
3activation of MAPKK activityGO:00001869.2NRAS, KRAS
4regulation of synaptic transmission, GABAergicGO:00322289.2KRAS, NF1, NRAS
5regulation of long-term neuronal synaptic plasticityGO:00481699.2NRAS, NF1, KRAS
6leukocyte migrationGO:00509009.2KRAS, NRAS, PTPN11
7insulin receptor signaling pathwayGO:00082869.2PTPN11, NRAS, KRAS
8visual learningGO:00085429.2KRAS, NF1, NRAS
9MAPK cascadeGO:00001659.1NRAS, NF1, KRAS
10Ras protein signal transductionGO:00072659.1KRAS, NF1, NRAS
11Fc-epsilon receptor signaling pathwayGO:00380959.1KRAS, NRAS, PTPN11
12neurotrophin TRK receptor signaling pathwayGO:00480119.1PTPN11, NRAS, KRAS
13small GTPase mediated signal transductionGO:00072649.0ARHGAP26, KRAS, NRAS
14axon guidanceGO:00074119.0KRAS, NRAS, PTPN11
15innate immune responseGO:00450879.0KRAS, NRAS, PTPN11
16actin cytoskeleton organizationGO:00300368.8ARHGAP26, KRAS, NF1, NRAS
17fibroblast growth factor receptor signaling pathwayGO:00085438.7KRAS, NRAS, CBL, PTPN11
18epidermal growth factor receptor signaling pathwayGO:00071738.7PTPN11, CBL, NRAS, KRAS
19blood coagulationGO:00075968.7KRAS, NRAS, PTPN11

Products for genes affiliated with Leukemia, Juvenile Myelomonocytic

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Sources for Leukemia, Juvenile Myelomonocytic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet