JMML
MCID: JVN004
MIFTS: 53

Juvenile Myelomonocytic Leukemia (JMML) malady

Cancer, Blood categories

Summaries for Juvenile Myelomonocytic Leukemia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Juvenile myelomonocytic leukemia (JMML) is a serious chronic leukemia (cancer of the blood) that affects... more...

MalaCards: Juvenile Myelomonocytic Leukemia, also known as leukemia, juvenile myelomonocytic, is related to acute leukemia and noonan syndrome. An important gene associated with Juvenile Myelomonocytic Leukemia is NF1 (neurofibromin 1), and among its related pathways are IL-3 Signaling Pathway and pilocytic astrocytoma. The compounds phosphatidylinositol and rapamycin have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and lung, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:47 607785

Aliases & Classifications for Juvenile Myelomonocytic Leukemia

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
juvenile myelomonocytic leukemia:
Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

juvenile myelomonocytic leukemia 8 43 10 45 49 31 61
leukemia, juvenile myelomonocytic 9 43 22 47
juvenile chronic myelomonocytic leukemia 49
jmml 43


External Ids:

Disease Ontology8 DOID:0050458
OMIM47 607785
MeSH35 D054429
MESH via Orphanet36 D054429
ICD10 via Orphanet26 C93.3
SNOMED-CT via Orphanet58 128832006, 277587001, 445227008
UMLS via Orphanet62 C0349639
ICD1025 C93.3

Related Diseases for Juvenile Myelomonocytic Leukemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia31.0PTPN11, KRAS, NF1
2noonan syndrome30.9NRAS, NF1, KRAS, PTPN11
3neurofibromatosis30.9NF1, KRAS, PTPN11
4chronic myelomonocytic leukemia30.7PTPN11, NF1
5myelodysplastic syndromes30.5NRAS, NF1, KRAS, PTPN11
6acute lymphoblastic leukemia, childhood30.2PTPN11, KRAS
7myeloproliferative disorder30.2NF1, PTPN11
8chronic myeloid leukemia30.2PTPN11, KRAS, NF1, NRAS
9t-cell leukemia10.9
10acute myelomonocytic leukemia10.7
11hematopoietic stem cell transplantation10.7
12n syndrome10.7
13noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia10.6
14juvenile xanthogranuloma10.5
15cytomegalovirus infection10.5
16hemophagocytic lymphohistiocytosis10.4
17neonatal leukemia10.4
18acute myeloid leukemia10.3
19acute lymphocytic leukemia10.3
20chronic pain10.3
21graft versus host disease10.2
22bronchiolitis obliterans10.2
23bronchiolitis10.2
24diphtheria10.2
25neonatal respiratory failure10.2
26beta thalassemia10.2
27wiskott-aldrich syndrome10.2
28systemic lupus erythematosus10.2
29acute t cell leukemia10.2
30diabetes insipidus10.2
31biotin deficiency10.2
32central nervous system leukemia10.2
33biotinidase deficiency10.2
34thalassemia10.2
35thrombocytopenia10.2
36tooth disease10.2
37acute myeloid leukemia, childhood10.2
38acute promyelocytic leukemia10.2
39hydrops fetalis10.2
40kikuchi disease10.2
41lupus nephritis10.2
42noonan syndrome 110.2
43myelodysplastic syndrome, somatic10.2
44sepsis10.2
45leukemia, acute myeloid, somatic10.2
46nephritis10.2
47pediatric systemic lupus erythematosus10.2
48pilocytic astrocytoma10.0NF1
49cardiofaciocutaneous syndrome10.0KRAS
50astrocytoma10.0NF1

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



Diseases related to juvenile myelomonocytic leukemia

Clinical Features for Juvenile Myelomonocytic Leukemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607785

Drugs & Therapeutics for Juvenile Myelomonocytic Leukemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Juvenile Myelomonocytic Leukemia

Drug clinical trials:

Search ClinicalTrials for Juvenile Myelomonocytic Leukemia

Search NIH Clinical Center for Juvenile Myelomonocytic Leukemia

Search CenterWatch for Juvenile Myelomonocytic Leukemia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Juvenile Myelomonocytic Leukemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Juvenile Myelomonocytic Leukemia:
Hemacord
Embryonic/Adult Cultured Cells Related to Juvenile Myelomonocytic Leukemia:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Juvenile Myelomonocytic Leukemia

Sources:
22GTR
See all sources

Genetic tests related to Juvenile Myelomonocytic Leukemia:

id Genetic test Affiliating Genes
1 Juvenile Myelomonocytic Leukemia22

Anatomical Context for Juvenile Myelomonocytic Leukemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Juvenile Myelomonocytic Leukemia:

33
Skin, Lymph node, Lung, Bone marrow, Tonsil, Myeloid, Nk cells, T cells, B lymphoblasts, B cells

Animal Models for Juvenile Myelomonocytic Leukemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Juvenile Myelomonocytic Leukemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9PTPN11, KRAS, NF1
2MP:00053718.2PTPN11, KRAS, NF1, NRAS
3MP:00020068.2NRAS, NF1, KRAS, PTPN11
4MP:00053708.2NRAS, NF1, KRAS, PTPN11
5MP:00107718.1NRAS, NF1, KRAS, PTPN11
6MP:00053978.1PTPN11, KRAS, NF1, NRAS
7MP:00028738.0PTPN11, KRAS, NF1, NRAS
8MP:00053857.8NRAS, NF1, KRAS, PTPN11

Publications for Juvenile Myelomonocytic Leukemia

Sources:
51PubMed
See all sources

Articles related to Juvenile Myelomonocytic Leukemia:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
Treatment of disease recurrence after allogeneic hematopoietic stem cell transplantation in children with juvenile myelomonocytic leukemia: a great challenge still to be won. (22976832)
2013
2
Patient-derived induced pluripotent stem cells recapitulate hematopoietic abnormalities of juvenile myelomonocytic leukemia. (23620576)
2013
3
Analysis of risk factors influencing outcomes after cord blood transplantation in children with juvenile myelomonocytic leukemia: a EUROCORD, EBMT, EWOG-MDS, CIBMTR study. (23926304)
2013
4
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. (22887781)
2012
5
Current management of juvenile myelomonocytic leukemia and the impact of RAS mutations. (22480363)
2012
6
Central nervous system lesions due to juvenile myelomonocytic leukemia progressed in a boy undergoing first line chemotherapy. (22461033)
2012
7
Spontaneous remission of juvenile myelomonocytic leukemia with NRAS mutation. (22857389)
2012
8
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. (21106241)
2011
9
Abnormal promoter DNA methylation in juvenile myelomonocytic leukemia is not caused by mutation in DNMT3A. (22021454)
2011
10
Therapy-related myelodysplastic syndrome of recipient origin in a juvenile myelomonocytic leukemia patient 17 years after allogeneic BMT. (20871639)
2011
11
Juvenile myelomonocytic leukemia characterized by cutaneous lesion containing Langerhans cell histiocytosis-like cells. (21350822)
2011
12
Infant juvenile myelomonocytic leukemia (JMML) with rapid infiltration of multiple organs. (20403038)
2010
13
Mutations in the let-7 binding site - a mechanism of RAS activation in juvenile myelomonocytic leukemia? (20460640)
2010
14
Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? (20339110)
2010
15
Cutaneous xanthogranulomas, hepatosplenomegaly, anemia, and thrombocytopenia as presenting signs of juvenile myelomonocytic leukemia. (20000879)
2010
16
Molecular basis of juvenile myelomonocytic leukemia. (20139388)
2010
17
Aberrant GM-CSF signal transduction pathway in juvenile myelomonocytic leukemia assayed by flow cytometric intracellular STAT5 phosphorylation measurement. (18830265)
2009
18
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. (19571318)
2009
19
RAS pathway mutations in juvenile myelomonocytic leukemia. (18566538)
2008
20
Quantification of granulocyte-macrophage colony-stimulating factor hypersensitivity in juvenile myelomonocytic leukemia by 3H-thymidine assay. (18164384)
2008
21
Mutation analysis of SIPA1 in patients with juvenile myelomonocytic leukemia. (18492118)
2008
22
Development of an allele-specific minimal residual disease assay for patients with juvenile myelomonocytic leukemia. (18000165)
2008
23
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. (17353900)
2007
24
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. (17332249)
2007
25
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. (17710663)
2007
26
Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features. (18090932)
2007
27
Non-hematopoietic stem cell transplantation treatment of juvenile myelomonocytic leukemia: a retrospective analysis and definition of response criteria. (16991133)
2007
28
Origin of macrophages involved in the development of allogeneic hematopoietic stem cell transplantation-associated hemophagocytic syndrome: observations on a patient with juvenile myelomonocytic leukemia. (17646843)
2007
29
Identification of an immunogenic CD8+ T-cell epitope derived from gamma-globin, a putative tumor-associated antigen for juvenile myelomonocytic leukemia. (16778141)
2006
30
A novel somatic K-Ras mutation in juvenile myelomonocytic leukemia. (16826224)
2006
31
Little response to zoledronic acid in a child of juvenile myelomonocytic leukemia (JMML) harboring the PTPN11 mutation. (15857842)
2005
32
Activating FLT3 mutations are rare in children with juvenile myelomonocytic leukemia. (15390271)
2005
33
Juvenile myelomonocytic leukemia. (15087069)
2004
34
The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML). (15496981)
2004
35
Chemotherapy and donor leukocyte infusions for relapsed juvenile myelomonocytic leukemia (JMML). (15064688)
2004
36
Treatment of pediatric myelodysplastic syndromes and juvenile myelomonocytic leukemia: the Brazilian experience in the past decade. (15234570)
2004
37
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. (12717436)
2003
38
Isolated CNS relapse following stem cell transplantation for juvenile myelomonocytic leukemia. (14608204)
2003
39
A case of juvenile myelomonocytic leukemia presenting with a B-lymphoblastic immunophenotype. (11524251)
2001
40
Juvenile myelomonocytic leukemia and Noonan syndrome. (10598665)
1999
41
Expression of interferon regulatory factor 1 and 2 in hematopoietic cells of children with juvenile myelomonocytic leukemia. (10609788)
1999
42
Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. (9639526)
1998
43
Diphtheria toxin fused to granulocyte-macrophage colony-stimulating factor is toxic to blasts from patients with juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia. (9834234)
1998
44
Cytogenetic clonality analysis in monosomy 7 associated with juvenile myelomonocytic leukemia: clonality in B and NK cells, but not in T cells. (9766748)
1998
45
Juvenile myelomonocytic leukemia (JMML) with the hematologic phenotype of severe beta thalassemia. (9590152)
1998
46
Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. (9149755)
1997
47
Unbalanced t(3;12) in a case of juvenile myelomonocytic leukemia (JMML) results in partial trisomy of 3q as defined by FISH. (9305599)
1997
48
Treatment of juvenile chronic myelomonocytic leukemia by allogeneic bone marrow transplantation. (7920314)
1994
49
Partial trisomy of 3q detected by chromosome painting in a case of juvenile chronic myelomonocytic leukemia. (8275454)
1993
50
Subacute and chronic myelomonocytic leukemia in children (juvenile CML). Clinical and hematologic observations, and identification of prognostic factors. (6589029)
1984

Genetic Variations for Juvenile Myelomonocytic Leukemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Juvenile Myelomonocytic Leukemia:

63 (show all 12)
id Symbol AA change Variation 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
12p.Asp868AsnVAR_063807

Expression for genes affiliated with Juvenile Myelomonocytic Leukemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Juvenile Myelomonocytic Leukemia

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

Pathways for genes affiliated with Juvenile Myelomonocytic Leukemia

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 52QIAGEN, 56SinoBiological, 50PharmGKB, 30KEGG, 60Tocris Bioscience, 12EMD Millipore
See all sources

Pathways related to Juvenile Myelomonocytic Leukemia according to GeneCards/GeneDecks:

(show all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PTPN11
29.4PTPN11, NF1
39.3KRAS, PTPN11
49.3KRAS, PTPN11
5
Hide members
9.3PTPN11, KRAS
69.2NF1, NRAS
7
Hide members
9.1NRAS, KRAS
89.1KRAS, NRAS
99.1KRAS, NRAS
10
Hide members
9.1NRAS, KRAS
119.1KRAS, NRAS
129.1KRAS, NRAS
13
Hide members
9.1NRAS, KRAS
14
Hide members
9.1KRAS, NRAS
15
Hide members
9.1KRAS, NRAS
16
Hide members
9.1NRAS, KRAS
17
Hide members
9.1KRAS, NRAS
18
Signal transduction cAMP signaling
Hide members
9.1KRAS, NRAS
19
Hide members
9.1KRAS, NRAS
20
Hide members
9.1KRAS, NRAS
219.1KRAS, NRAS
22
Hide members
9.1NRAS, KRAS
23
Hide members
9.1KRAS, NRAS
249.1KRAS, NRAS
25
Hide members
8.9NF1, KRAS, PTPN11
26
Hide members
8.7NRAS, NF1, KRAS
27
Hide members
8.7KRAS, NF1, NRAS
288.5NRAS, KRAS, PTPN11
29
Translation Insulin regulation of translation
Hide members
8.5NRAS, KRAS, PTPN11
30
Hide members
8.5NRAS, KRAS, PTPN11
31
Hide members
8.5NRAS, KRAS, PTPN11
328.5NRAS, KRAS, PTPN11
33
Hide members
8.5NRAS, KRAS, PTPN11
348.5NRAS, KRAS, PTPN11
35
Development Prolactin receptor signaling
Hide members
8.5PTPN11, KRAS, NRAS
36
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.5PTPN11, KRAS, NRAS
37
Hide members
8.5PTPN11, KRAS, NRAS
38
Hide members
8.5PTPN11, KRAS, NRAS
39
Hide members
8.5PTPN11, KRAS, NRAS
40
Hide members
8.5PTPN11, KRAS, NRAS
41
Hide members
8.5PTPN11, KRAS, NRAS
428.5PTPN11, KRAS, NRAS
43
Hide members
8.5PTPN11, KRAS, NRAS
448.5PTPN11, KRAS, NRAS
45
Hide members
8.5PTPN11, KRAS, NRAS
46
Hide members
8.5PTPN11, KRAS, NRAS
47
Hide members
8.0PTPN11, KRAS, NRAS, ARHGAP26

Compounds for genes affiliated with Juvenile Myelomonocytic Leukemia

Sources:
45Novoseek
See all sources

Compounds related to Juvenile Myelomonocytic Leukemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol458.9PTPN11, KRAS, NF1
2rapamycin458.8PTPN11, KRAS, NF1
3oligonucleotide458.1PTPN11, KRAS, NF1, NRAS
4tyrosine457.8NRAS, NF1, KRAS, PTPN11

GO Terms for genes affiliated with Juvenile Myelomonocytic Leukemia

Sources:
16Gene Ontology
See all sources

Biological processes related to Juvenile Myelomonocytic Leukemia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:0350229.4KRAS, NRAS
2striated muscle cell differentiationGO:0511469.4KRAS, NRAS
3activation of MAPKK activityGO:0001869.1KRAS, NRAS
4negative regulation of neuron apoptotic processGO:0435249.1KRAS, NRAS
5regulation of synaptic transmission, GABAergicGO:0322289.0KRAS, NF1, NRAS
6regulation of long-term neuronal synaptic plasticityGO:0481699.0NRAS, NF1, KRAS
7visual learningGO:0085429.0KRAS, NF1, NRAS
8MAPK cascadeGO:0001659.0NRAS, NF1, KRAS
9Ras protein signal transductionGO:0072659.0KRAS, NF1, NRAS
10leukocyte migrationGO:0509008.8NRAS, KRAS, PTPN11
11insulin receptor signaling pathwayGO:0082868.7NRAS, KRAS, PTPN11
12fibroblast growth factor receptor signaling pathwayGO:0085438.7PTPN11, KRAS, NRAS
13Fc-epsilon receptor signaling pathwayGO:0380958.7PTPN11, KRAS, NRAS
14epidermal growth factor receptor signaling pathwayGO:0071738.7NRAS, KRAS, PTPN11
15small GTPase mediated signal transductionGO:0072648.7KRAS, NRAS, ARHGAP26
16neurotrophin TRK receptor signaling pathwayGO:0480118.7PTPN11, KRAS, NRAS
17axon guidanceGO:0074118.6NRAS, KRAS, PTPN11
18actin cytoskeleton organizationGO:0300368.5KRAS, NF1, NRAS, ARHGAP26
19blood coagulationGO:0075968.4NRAS, KRAS, PTPN11
20innate immune responseGO:0450878.2PTPN11, KRAS, NRAS

Products for genes affiliated with Juvenile Myelomonocytic Leukemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Myelomonocytic Leukemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet