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JMML
MCID: JVN004
MIFTS: 68

Juvenile Myelomonocytic Leukemia (JMML)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Juvenile Myelomonocytic Leukemia

About this section

MalaCards integrated aliases for Juvenile Myelomonocytic Leukemia:

Name: Juvenile Myelomonocytic Leukemia 57 38 12 53 59 29 55 6 15 73
Leukemia, Juvenile Myelomonocytic 57 53 75 13
Jmml 57 53 59 75
Leukemia, Juvenile Myelomonocytic, Somatic 57
Juvenile Chronic Myelomonocytic Leukemia 59
Juvenile Chronic Myelogenous Leukemia 75
Leukemia, Juvenile Myelomonocytic ) 40
Leukemia, Myelomonocytic, Juvenile 44

Characteristics:

Orphanet epidemiological data:

59
juvenile myelomonocytic leukemia
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
one family has been reported with germline cbl mutation (last curated may 2016)


HPO:

32
juvenile myelomonocytic leukemia:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


External Ids:

OMIM 57 607785
Disease Ontology 12 DOID:0050458
ICD10 33 C93.3 C93.30
MeSH 44 D054429
NCIt 50 C9233
Orphanet 59 ORPHA86834
MESH via Orphanet 45 D054429
UMLS via Orphanet 74 C0349639
ICD10 via Orphanet 34 C93.3
UMLS 73 C0349639
Sources

Summaries for Juvenile Myelomonocytic Leukemia

About this section
OMIM : 57 Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). (607785)

MalaCards based summary : Juvenile Myelomonocytic Leukemia, also known as leukemia, juvenile myelomonocytic, is related to noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia and noonan syndrome 3, and has symptoms including fever, fatigue and exanthema. An important gene associated with Juvenile Myelomonocytic Leukemia is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are juvenile myelomonocytic leukemia and Decreased viability

Disease Ontology : 12 A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.

UniProtKB/Swiss-Prot : 75 Leukemia, juvenile myelomonocytic: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.

Wikipedia : 76 Juvenile myelomonocytic leukemia (JMML) is a serious chronic leukemia (cancer of the blood) that affects... more...

Sources

Related Diseases for Juvenile Myelomonocytic Leukemia

About this section

Diseases in the Chronic Myelomonocytic Leukemia family:

Juvenile Myelomonocytic Leukemia

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 34.6 CBL PTPN11
2 noonan syndrome 3 32.3 KRAS PTPN11 RAF1 SOS1
3 myelodysplastic myeloproliferative cancer 32.1 CSF2 NF1 NRAS PTPN11 SETBP1 TET2
4 noonan syndrome 1 32.1 BRAF KRAS NF1 NRAS PTPN11 RAF1
5 leukemia 31.7 CSF2 FLT3 NF1 NRAS PTPN11 RAF1
6 leukemia, chronic myeloid 31.0 CBL CSF2 FLT3 NRAS RUNX1 SETBP1
7 myeloid leukemia 30.5 CSF2 FLT3 NRAS PTPN11 RUNX1 TET2
8 chronic myelomonocytic leukemia 30.3 CSF2 FLT3 NF1 PTPN11 RUNX1 SETBP1
9 myelodysplastic syndrome 30.2 ARHGAP26 CSF2 FLT3 KRAS NF1 NRAS
10 langerhans cell histiocytosis 30.2 BRAF CSF2 NRAS
11 leukemia, acute myeloid 30.2 CSF2 FLT3 KRAS NRAS PTPN11 RUNX1
12 hypertrophic cardiomyopathy 30.1 BRAF KRAS PTPN11 RAF1 SOS1
13 noonan syndrome 4 11.3
14 noonan syndrome 5 11.3
15 noonan syndrome 6 11.3
16 noonan syndrome 7 11.3
17 noonan syndrome 8 11.3
18 noonan syndrome 9 11.3
19 noonan syndrome 10 11.3
20 hematopoietic stem cell transplantation 10.5
21 pseudo-turner syndrome 10.5
22 neurofibromatosis, type i 10.4
23 lymphocytic leukemia 10.4
24 leukemia, acute lymphoblastic 10.3
25 cytomegalovirus infection 10.3
26 urachal adenocarcinoma 10.3 BRAF KRAS NF1
27 pilocytic astrocytoma 10.2 BRAF KRAS NF1
28 mucosal melanoma 10.2 BRAF NF1 NRAS
29 lentigines 10.2 BRAF PTPN11 RAF1
30 costello syndrome 10.2 KRAS PTPN11 SOS1
31 villonodular synovitis 10.2 PTPN11 SOS1
32 noonan syndrome with multiple lentigines 10.2 BRAF PTPN11 RAF1
33 pdgfrb-associated chronic eosinophilic leukemia 10.2
34 leukemia, chronic lymphocytic 2 10.2 BRAF KRAS NRAS PTPN11
35 hyperplastic polyposis syndrome 10.2 BRAF KRAS
36 schimmelpenning-feuerstein-mims syndrome 10.2 KRAS NRAS
37 legius syndrome 10.2 NF1 PTPN11 SPRED1
38 pulmonary valve disease 10.2 PTPN11 SOS1 SPRED1
39 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.2 FLT3 RUNX1
40 leopard syndrome 10.2 BRAF NF1 PTPN11 RAF1
41 subacute myeloid leukemia 10.2 FLT3 TET2
42 pilomyxoid astrocytoma 10.2 BRAF KRAS NF1 RAF1
43 differentiated thyroid carcinoma 10.2 BRAF KRAS NRAS
44 hypertelorism 10.2 BRAF PTPN11 RAF1 RIT1
45 syringocystadenoma papilliferum 10.2 BRAF KRAS
46 hemophagocytic lymphohistiocytosis 10.2
47 respiratory failure 10.2
48 gastrointestinal stromal tumor 10.1 BRAF FLT3 KRAS NF1
49 myeloma, multiple 10.1 BRAF CSF2 KRAS NRAS PTPN11
50 core binding factor acute myeloid leukemia 10.1 CBL FLT3 KRAS NRAS RUNX1

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



Diseases related to Juvenile Myelomonocytic Leukemia
Sources

Symptoms & Phenotypes for Juvenile Myelomonocytic Leukemia

About this section

Symptoms via clinical synopsis from OMIM:

57
Hematology:
juvenile myelomonocytic leukemia


Clinical features from OMIM:

607785

Human phenotypes related to Juvenile Myelomonocytic Leukemia:

32
# Description HPO Frequency HPO Source Accession
1 juvenile myelomonocytic leukemia 32 HP:0012209

UMLS symptoms related to Juvenile Myelomonocytic Leukemia:


fever, fatigue, exanthema

GenomeRNAi Phenotypes related to Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

26 (show all 46)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.22 KRAS
2 Decreased viability GR00106-A-0 10.22 KRAS
3 Decreased viability GR00173-A 10.22 FLT3
4 Decreased viability GR00221-A-1 10.22 FLT3 KRAS NF1 NRAS RAF1
5 Decreased viability GR00221-A-2 10.22 KRAS NF1 RAF1
6 Decreased viability GR00221-A-3 10.22 NRAS
7 Decreased viability GR00221-A-4 10.22 FLT3 NF1
8 Decreased viability GR00231-A 10.22 RAF1
9 Decreased viability GR00301-A 10.22 KRAS RAF1
10 Decreased viability GR00381-A-1 10.22 KRAS
11 Decreased viability GR00402-S-2 10.22 FLT3 KRAS NF1 NRAS RAF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.94 SOS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.94 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.94 PTPN11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.94 SOS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.94 PTPN11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.94 CBL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.94 SOS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.94 CBL SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.94 PTPN11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.94 BRAF CBL NF1 PTPN11 RAF1 SOS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.94 CBL RAF1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.94 RAF1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.94 BRAF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.94 BRAF
26 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.94 PTPN11
27 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.94 CBL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.94 PTPN11
29 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.94 BRAF
30 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.94 CBL
31 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.94 CBL
32 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.94 BRAF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.94 BRAF
34 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.94 BRAF
35 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.94 PTPN11
36 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.94 CBL
37 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.94 NF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.94 BRAF PTPN11
39 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.94 RAF1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.94 PTPN11
41 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.94 NF1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.94 PTPN11
43 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.94 CBL
44 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.94 NF1
45 Decreased cell migration GR00055-A-1 9.73 ARHGAP26 BRAF CBL KRAS NF1 SOS1
46 Increased cell migration GR00055-A-3 9.35 BRAF CBL KRAS NF1 SOS1

MGI Mouse Phenotypes related to Juvenile Myelomonocytic Leukemia:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.41 BRAF CBL CSF2 FLT3 KRAS NF1
2 cellular MP:0005384 10.4 BRAF CBL CSF2 FLT3 KRAS NF1
3 immune system MP:0005387 10.39 BRAF CBL CSF2 FLT3 KRAS NF1
4 cardiovascular system MP:0005385 10.38 BRAF CBL CSF2 KRAS NF1 NRAS
5 growth/size/body region MP:0005378 10.37 BRAF CBL CSF2 FLT3 KRAS NF1
6 homeostasis/metabolism MP:0005376 10.37 BRAF CBL CSF2 FLT3 KRAS NF1
7 endocrine/exocrine gland MP:0005379 10.35 BRAF CBL CSF2 FLT3 KRAS NF1
8 craniofacial MP:0005382 10.28 BRAF CBL CSF2 KRAS NF1 NRAS
9 mortality/aging MP:0010768 10.28 BRAF CBL CSF2 FLT3 KRAS NF1
10 integument MP:0010771 10.24 BRAF CBL CSF2 KRAS NF1 NRAS
11 embryo MP:0005380 10.23 BRAF CSF2 KRAS NF1 NRAS PTPN11
12 neoplasm MP:0002006 10.15 BRAF CSF2 FLT3 KRAS NF1 NRAS
13 liver/biliary system MP:0005370 10.11 BRAF CBL KRAS NF1 NRAS PTPN11
14 hearing/vestibular/ear MP:0005377 10.02 BRAF CBL KRAS NF1 PTPN11 RAF1
15 limbs/digits/tail MP:0005371 10.02 BRAF CBL KRAS NF1 NRAS PTPN11
16 muscle MP:0005369 10.01 ARHGAP26 BRAF CBL KRAS NF1 PTPN11
17 no phenotypic analysis MP:0003012 9.92 FLT3 KRAS NRAS PTPN11 RAF1 RUNX1
18 normal MP:0002873 9.86 BRAF KRAS NF1 NRAS PTPN11 RAF1
19 pigmentation MP:0001186 9.63 BRAF CBL KRAS NF1 NRAS PTPN11
20 respiratory system MP:0005388 9.61 BRAF CBL CSF2 KRAS NF1 PTPN11
21 skeleton MP:0005390 9.36 BRAF CBL CSF2 FLT3 KRAS NF1
Sources

Drugs & Therapeutics for Juvenile Myelomonocytic Leukemia

About this section

Drugs for Juvenile Myelomonocytic Leukemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 427)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
2
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
3 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8
Decitabine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 2353-33-5 451668
9
Azacitidine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 320-67-2 9444
10
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 147-94-4 6253
11
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
12
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
13
Ofloxacin Approved Phase 3 82419-36-1 4583
14
Cefepime Approved, Investigational Phase 3,Phase 1 88040-23-7 5479537
15
Idarubicin Approved Phase 3,Phase 1,Phase 2,Not Applicable 58957-92-9 42890
16
Etoposide Approved Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
17
Tacrolimus Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 445643 439492
18
leucovorin Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-05-9 6006 143
19
Methotrexate Approved Phase 3,Phase 2,Phase 1,Not Applicable 59-05-2, 1959-05-2 126941
20
Lenalidomide Approved Phase 3,Phase 1,Phase 2 191732-72-6 216326
21
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
22
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
23
Fludarabine Approved Phase 3,Phase 2,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
24
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 50-24-8 5755
25
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 302-25-0
26
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 83-43-2 6741
27
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3,Phase 1,Not Applicable 2921-57-5
28
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
29
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
30
Hydroxyurea Approved Phase 3,Phase 2 127-07-1 3657
31
Allopurinol Approved Phase 3,Phase 2,Phase 1 315-30-0 2094
32
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
33 tannic acid Approved Phase 3,Phase 2
34
Iron Approved Phase 3,Phase 2,Phase 1,Not Applicable 7439-89-6 23925
35
Daunorubicin Approved Phase 3,Phase 1,Phase 2 20830-81-3 30323
36
Mitoxantrone Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 65271-80-9 4212
37
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
38
Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1 52-24-4 5453
39
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
40
Acyclovir Approved Phase 3 59277-89-3 2022
41
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
42
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
43
Thioguanine Approved Phase 3 154-42-7 2723601
44
Lorazepam Approved Phase 3 846-49-1 3958
45
Aldesleukin Approved Phase 3,Phase 1,Phase 2 85898-30-2, 110942-02-4
46
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 50-02-2 5743
47
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 1177-87-3
48
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
49
Estradiol Approved, Investigational, Vet_approved Phase 3,Not Applicable 50-28-2 5757
50
Moxifloxacin Approved, Investigational Phase 3,Not Applicable 354812-41-2, 151096-09-2 152946

Interventional clinical trials:

(show top 50) (show all 480)
# Name Status NCT ID Phase Drugs
1 Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide for Hematological Malignancies Hematocrit (HCT) Not yet recruiting NCT01339988 Phase 4 Busulfan/Cyclophosphamide
2 Low-Dose Decitabine Compared With Standard Supportive Care in Treating Older Patients With Myelodysplastic Syndrome Unknown status NCT00043134 Phase 3 decitabine
3 Donor Stem Cell Transplant With or Without Chemotherapy in Treating Children With Primary Myelodysplastic Syndrome Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
4 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
5 Levofloxacin Compared With Cefepime in Treating Cancer Patients With Fever and Neutropenia Unknown status NCT00020865 Phase 3 cefepime hydrochloride;levofloxacin
6 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Unknown status NCT00002926 Phase 3 cytarabine;etoposide;idarubicin
7 Study of Lonafarnib Versus Placebo in Subjects With Either Myelodysplastic Syndrome (MDS) or Chronic Myelomonocytic Leukemia (CMML) (Study P02978AM3)(TERMINATED) Terminated NCT00109538 Phase 3 Lonafarnib
8 Study of ASTX727 vs IV Decitabine in MDS and CMML Recruiting NCT03306264 Phase 3 ASTX727;Dacogen
9 Pevonedistat Plus Azacitidine Versus Single-Agent Azacitidine as First-Line Treatment for Participants With Higher-Risk Myelodysplastic Syndromes (HR MDS), Chronic Myelomonocytic Leukemia (CMML), or Low-Blast Acute Myelogenous Leukemia (AML) Recruiting NCT03268954 Phase 3 Azacitidine;Pevonedistat
10 Randomized Phase III Study of Decitabine +/- Hydroxyurea (HY) Versus HY in Advanced Proliferative CMML Recruiting NCT02214407 Phase 3 Decitabine;HYDROXYUREA
11 Guadecitabine (SGI-110) vs Treatment Choice in Adults With MDS or CMML Previously Treated With HMAs Recruiting NCT02907359 Phase 3 Guadecitabine
12 Efficacy of Oral Azacitidine Plus Best Supportive Care as Maintenance Therapy in Subjects With Acute Myeloid Leukemia in Complete Remission Active, not recruiting NCT01757535 Phase 3 300 mg Oral Azacitidine;Placebo
13 Efficacy and Safety of IV Rigosertib in MDS Patients With Excess Blasts Progressing After Azacitidine or Decitabine Active, not recruiting NCT01928537 Phase 3 rigosertib sodium
14 Randomized Study of ON 01910.Na in Refractory Myelodysplastic Syndrome Patients With Excess Blasts Active, not recruiting NCT01241500 Phase 3 ON 01910.Na
15 Comparison Between Cyclophosphamide and Combination of Methotrexate + Calcineurin Inhibitor for GVHD Prophylaxis Terminated NCT01749111 Phase 3 ARM A Cyclophosphamide;ARM B Calcineurin inhibitor and methotrexate
16 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
17 Lenalidomide With or Without Epoetin Alfa in Treating Patients With Myelodysplastic Syndrome and Anemia Active, not recruiting NCT00843882 Phase 3 Lenalidomide
18 Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT00152139 Phase 3 Chemotherapy and antibodies
19 Donor Bone Marrow Transplant With or Without G-CSF in Treating Young Patients With Hematologic Cancer or Other Diseases Terminated NCT00450450 Phase 3
20 Haploidentical Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT00186823 Phase 3 TBI, systemic chemotherapy and antibodies as follows:
21 A Web-Based Stem Cell Transplant Support System or Standard Care in Young Patients Undergoing Stem Cell Transplant and Their Families Completed NCT00782145 Phase 3
22 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
23 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
24 Laboratory-Treated Donor Bone Marrow in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Hematologic Cancer Completed NCT00265837 Phase 3
25 Mycophenolate Mofetil (MMF) for Treatment of Chronic Graft-versus-host Disease (GVHD) Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
26 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
27 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
28 Internet-Based Program With or Without Telephone-Based Problem-Solving Training in Helping Long-Term Survivors of Hematopoietic Stem Cell Transplant Cope With Late Complications Completed NCT00799461 Phase 3
29 Myeloablative Hematopoietic Progenitor Cell Transplantation (HPCT) for Pediatric Malignancies Recruiting NCT00619879 Phase 3 Myeloablative Chemotherapy Regimen for Lymphoid Malignancies or Cord Blood Unit Recipients;Myeloablative Chemotherapy Regimen for Non-Cord Blood Unit Recipients with Myeloid Malignancies
30 Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome Completed NCT00002798 Phase 3 asparaginase;daunorubicin hydrochloride;fludarabine phosphate;therapeutic hydrocortisone;cytarabine;idarubicin;dexamethasone;thioguanine;etoposide;methotrexate;cyclophosphamide;busulfan
31 Decitabine Versus Supportive Care in Adults With Advanced-stage MDS Completed NCT00043381 Phase 3 decitabine (5-aza-2'deoxycytidine)
32 S9920 Busulfan Compared With Cyclophosphamide in Patients Undergoing Total-Body Irradiation Plus Peripheral Stem Cell Transplantation for Advanced Myelodysplastic Syndrome or Related Acute Myeloid Leukemia Completed NCT00005866 Phase 3 busulfan;cyclophosphamide;cyclosporine;methotrexate
33 Cyclosporine Eye Drops in Preventing Graft-Versus-Host Disease of the Eye in Patients Who Have Undergone Donor Stem Cell Transplant for Hematologic Cancer or Bone Marrow Failure Disorder Completed NCT00755040 Phase 3 cyclosporine ophthalmic emulsion
34 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
35 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
36 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
37 Sibling Donor Peripheral Stem Cell Transplant or Sibling Donor Bone Marrow Transplant in Treating Patients With Hematologic Cancers or Other Diseases Completed NCT00438958 Phase 3
38 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
39 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3 Fragmin
40 Bone Marrow Transplantation in Treating Patients With Leukemia, Myelodysplasia, or Lymphoblastic Lymphoma Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
41 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
42 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
43 Intensive Compared With Nonintensive Chemotherapy in Treating Older Patients With Acute Myeloid Leukemia or Myelodysplastic Syndrome Completed NCT00005823 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;hydroxyurea;idarubicin;mitoxantrone hydrochloride;thioguanine;tretinoin;valspodar
44 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
45 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
46 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
47 Combination Chemotherapy in Treating Children With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome Completed NCT00002517 Phase 3 cytarabine;daunorubicin hydrochloride;dexamethasone;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine
48 Lenalidomide in Patients With Chronic Myelomonocytic Leukemia Unknown status NCT01368757 Phase 1, Phase 2 Revlimid
49 Use of Decitabine in Myelodysplastic Syndrome (MDS) Following Azacitidine (AZA) Failure Unknown status NCT01133886 Phase 2 Decitabine
50 A Study of the Efficacy and Safety of Lenalidomide Combined to Escalating Doses of Chemotherapy in Intermediate-2-or High Risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) With Del 5q Unknown status NCT00885508 Phase 2 Lenalidomide

Search NIH Clinical Center for Juvenile Myelomonocytic Leukemia

Cell-based therapeutics:


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

Cochrane evidence based reviews: leukemia, myelomonocytic, juvenile

Sources

Genetic Tests for Juvenile Myelomonocytic Leukemia

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Genetic tests related to Juvenile Myelomonocytic Leukemia:

# Genetic test Affiliating Genes
1 Juvenile Myelomonocytic Leukemia 29 ARHGAP26 CBL NF1 PTPN11
Sources

Anatomical Context for Juvenile Myelomonocytic Leukemia

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MalaCards organs/tissues related to Juvenile Myelomonocytic Leukemia:

41
Bone, Bone Marrow, Myeloid, Lymph Node, Monocytes, T Cells, Lung
Sources

Publications for Juvenile Myelomonocytic Leukemia

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Articles related to Juvenile Myelomonocytic Leukemia:

(show top 50) (show all 281)
# Title Authors Year
1
The long non-coding RNA landscape in juvenile myelomonocytic leukemia. ( 29858388 )
2018
2
Juvenile myelomonocytic leukemia with t(3;5)(q25;q35), Auer rods and marked myelodysplasia. ( 29496305 )
2018
3
Somatic mutations activating Wiskott-Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients. ( 29316027 )
2018
4
Integrated molecular profiling of juvenile myelomonocytic leukemia. ( 29437595 )
2018
5
Novel approaches to diagnosis and treatment of Juvenile Myelomonocytic Leukemia. ( 29279013 )
2018
6
Disease burden and conditioning regimens in ASCT1221, a randomized phase II trial in children with juvenile myelomonocytic leukemia: A Children's Oncology Group study. ( 29528181 )
2018
7
Juvenile myelomonocytic leukemia in a patient with neurofibromatosis type 1 and xanthogranulomas. ( 29600694 )
2018
8
Mutation-specific signaling profiles and kinase inhibitor sensitivities of juvenile myelomonocytic leukemia revealed by induced pluripotent stem cells. ( 29884903 )
2018
9
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. ( 29988639 )
2018
10
Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report. ( 30012129 )
2018
11
Panobinostat inhibits the proliferation of CD34+ CD38- cells under stimulation of hematopoietic growth factors on AGM-S3 cells in juvenile myelomonocytic leukemia. ( 30014555 )
2018
12
Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL. ( 30096712 )
2018
13
KMT2A-rearranged infantile acute myeloid leukemia masquerading as juvenile myelomonocytic leukemia. ( 30143999 )
2018
14
Gene module analysis of juvenile myelomonocytic leukemia and screening of anticancer drugs. ( 30272300 )
2018
15
Juvenile myelomonocytic leukemia: a surprising cause of peri-orbital tumor and squint. ( 30315342 )
2018
16
Sphenoidal sinogenic extradural empyema associated with juvenile myelomonocytic leukemia. ( 30368391 )
2018
17
Juvenile myelomonocytic leukemia with prominent CD141 myeloid dendritic cell differentiation. ( 28414089 )
2017
18
Characteristics of the phenotypic abnormalities of bone marrow cells in childhood myelodysplastic syndromes and juvenile myelomonocytic leukemia. ( 27748021 )
2017
19
[Clinical Study on Treatment of Juvenile Myelomonocytic Leukemia with Haploidentical-Hematopoietic Stem Cell Transplantation]. ( 29070137 )
2017
20
Juvenile Myelomonocytic Leukemia: Profile and Outcome. ( 28755173 )
2017
21
DNA-hypomethylating agents as epigenetic therapy before and after allogeneic hematopoietic stem cell transplantation in myelodysplastic syndromes and juvenile myelomonocytic leukemia. ( 29129488 )
2017
22
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 28111791 )
2017
23
Juvenile myelomonocytic leukemia presenting as bilateral breast masses. ( 27717995 )
2017
24
Juvenile Myelomonocytic Leukemia in Turkey: A Retrospective Analysis of 65 Patients. ( 28179213 )
2017
25
Complete Resolution of Lymphoid Interstitial Pneumonia in a Patient With Juvenile Myelomonocytic Leukemia Treated With Allogeneic Bone Marrow Transplant: Killing 2 Birds With 1 Stone. ( 29023302 )
2017
26
RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia. ( 29259247 )
2017
27
Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7. ( 28084675 )
2017
28
Epigenetic dysregulation of the erythropoietic transcription factor KLF1 and the I^-like globin locus in juvenile myelomonocytic leukemia. ( 28749240 )
2017
29
Blastic transformation of juvenile myelomonocytic leukemia caused by the copy number gain of oncogenic KRAS. ( 28244637 )
2017
30
Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia. ( 29259179 )
2017
31
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. ( 28098151 )
2017
32
Use of Rapamycin in a Patient With Juvenile Myelomonocytic Leukemia: A Case Report. ( 28959694 )
2017
33
Juvenile myelomonocytic leukemia in an infant with congenital human immunodeficiency virus and cytomegalovirus infection. ( 28612348 )
2017
34
Diagnostic considerations in juvenile myelomonocytic leukemia in tropical settings. ( 28263030 )
2017
35
CREBBP is a target of epigenetic, but not genetic, modification in juvenile myelomonocytic leukemia. ( 27158276 )
2016
36
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. ( 26757980 )
2016
37
Epigenetic silencing of AKAP12 in juvenile myelomonocytic leukemia. ( 26891149 )
2016
38
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group. ( 26980750 )
2016
39
Anti-proliferative effects of T cells expressing a ligand-based chimeric antigen receptor against CD116 on CD34(+) cells of juvenile myelomonocytic leukemia. ( 26983639 )
2016
40
Early T-Cell Precursor Acute Lymphoblastic Leukemia in an Infant With an NRAS Q61R Mutation and Clinical Features of Juvenile Myelomonocytic Leukemia. ( 27145535 )
2016
41
MicroRNA fingerprints in juvenile myelomonocytic leukemia (JMML) identified miR-150-5p as a tumor suppressor and potential target for treatment. ( 27447965 )
2016
42
LIN28B overexpression defines a novel fetal-like subgroup of juvenile myelomonocytic leukemia. ( 26712910 )
2016
43
Sustained responses after clofarabine-based sequential allogeneic stem cell transplantation in children with high-risk, relapse and/or refractory acute myeloid leukemia or juvenile myelomonocytic leukemia: a study on behalf of the French society of bone marrow transplantation or cell therapy (SFGM-TC). ( 27184944 )
2016
44
Diagnosis and treatment of juvenile myelomonocytic leukemia. ( 27322988 )
2016
45
Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. ( 26911351 )
2016
46
Molluscum Mimicker: Juvenile Xanthogranulomas with Associated Juvenile Myelomonocytic Leukemia. ( 27514241 )
2016
47
Flow cytometry as a diagnostic support tool in juvenile myelomonocytic leukemia. ( 25956043 )
2016
48
Corrigendum: The genomic landscape of juvenile myelomonocytic leukemia. ( 26711114 )
2016
49
Long-term serial xenotransplantation of juvenile myelomonocytic leukemia recapitulates human disease in Rag2-/-γc-/- mice. ( 26888021 )
2016
50
Bridging to transplant with azacitidine in juvenile myelomonocytic leukemia: a retrospective analysis of the EWOG-MDS study group. ( 25838281 )
2015
Sources

Variations for Juvenile Myelomonocytic Leukemia

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

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 ARHGAP26 p.Asn417Ser VAR_013623 rs121918546
2 KRAS p.Gly12Asp VAR_016026 rs121913529
3 KRAS p.Gly12Ser VAR_016028 rs121913530
4 KRAS p.Gly13Asp VAR_016029 rs112445441
5 NRAS p.Gly13Asp VAR_063084 rs121434596
6 NRAS p.Gly12Asp VAR_071129 rs121913237
7 PTPN11 p.Asp61Val VAR_015991 rs121918461
8 PTPN11 p.Asp61Tyr VAR_015992 rs397507510
9 PTPN11 p.Glu69Lys VAR_015993 rs397507511
10 PTPN11 p.Ala72Thr VAR_015996 rs121918453
11 PTPN11 p.Ala72Val VAR_015997 rs121918454
12 PTPN11 p.Glu76Ala VAR_015998 rs121918465
13 PTPN11 p.Glu76Gly VAR_015999 rs121918465
14 PTPN11 p.Glu76Lys VAR_016000 rs121918464
15 PTPN11 p.Glu76Val VAR_016001 rs121918465
16 PTPN11 p.Gly507Ala VAR_016002 rs397507546
17 PTPN11 p.Gly507Arg VAR_016003 rs397507545
18 SETBP1 p.Asp868Asn VAR_063807 rs267607042

ClinVar genetic disease variations for Juvenile Myelomonocytic Leukemia:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4614G> A (p.Trp1538Ter) single nucleotide variant Pathogenic rs137854555 GRCh37 Chromosome 17, 29588828: 29588828
2 NF1 NM_000267.3(NF1): c.4614G> A (p.Trp1538Ter) single nucleotide variant Pathogenic rs137854555 GRCh38 Chromosome 17, 31261810: 31261810
3 NF1 NF1, IVS34, G-A, +18 single nucleotide variant Pathogenic
4 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
5 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh38 Chromosome 17, 31221842: 31221842
6 ARHGAP26 NM_015071.5(ARHGAP26): c.1250A> G (p.Asn417Ser) single nucleotide variant Pathogenic rs121918546 GRCh37 Chromosome 5, 142421420: 142421420
7 ARHGAP26 NM_015071.5(ARHGAP26): c.1250A> G (p.Asn417Ser) single nucleotide variant Pathogenic rs121918546 GRCh38 Chromosome 5, 143041855: 143041855
8 ARHGAP26 ARHGAP26, 52-BP INS insertion Pathogenic
9 ARHGAP26 ARHGAP26, 74-BP INS insertion Pathogenic
10 KRAS NM_033360.3(KRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs112445441 GRCh37 Chromosome 12, 25398281: 25398281
11 KRAS NM_033360.3(KRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs112445441 GRCh38 Chromosome 12, 25245347: 25245347
12 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
13 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
14 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
15 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
16 KRAS NM_033360.3(KRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913530 GRCh37 Chromosome 12, 25398285: 25398285
17 KRAS NM_033360.3(KRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913530 GRCh38 Chromosome 12, 25245351: 25245351
18 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
19 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
20 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
21 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh38 Chromosome 12, 112477719: 112477719
22 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
23 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
24 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
25 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
26 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
27 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
28 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
29 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh38 Chromosome 12, 112450398: 112450398
30 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh37 Chromosome 12, 112888210: 112888210
31 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh38 Chromosome 12, 112450406: 112450406
32 PTPN11 NM_002834.4(PTPN11): c.227A> T (p.Glu76Val) single nucleotide variant Pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
33 PTPN11 NM_002834.4(PTPN11): c.227A> T (p.Glu76Val) single nucleotide variant Pathogenic rs121918465 GRCh38 Chromosome 12, 112450407: 112450407
34 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
35 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 GRCh38 Chromosome 12, 112450407: 112450407
36 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
37 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 GRCh38 Chromosome 12, 112450407: 112450407
38 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
39 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh38 Chromosome 12, 112450416: 112450416
40 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
41 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh38 Chromosome 1, 114716123: 114716123
42 CBL NM_005188.3(CBL): c.1112A> G (p.Tyr371Cys) single nucleotide variant Pathogenic rs387906666 GRCh37 Chromosome 11, 119148892: 119148892
43 CBL NM_005188.3(CBL): c.1112A> G (p.Tyr371Cys) single nucleotide variant Pathogenic rs387906666 GRCh38 Chromosome 11, 119278182: 119278182
44 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
45 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh38 Chromosome 1, 114716126: 114716126
46 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
47 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh38 Chromosome 12, 112450354: 112450354
48 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh37 Chromosome 12, 112891083: 112891083
49 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh38 Chromosome 12, 112453279: 112453279
50 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh37 Chromosome 12, 112926887: 112926887
Sources

Expression for Juvenile Myelomonocytic Leukemia

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

Pathways for Juvenile Myelomonocytic Leukemia

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

(show top 50) (show all 144)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 66
Show member pathways
 14.28 ARHGAP26 BRAF CBL CSF2 KRAS NF1
2
Innate Immune System 66
Show member pathways
 14.14 BRAF CBL CSF2 FLT3 KRAS NF1
3
ERK Signaling 64
Show member pathways
 13.96 BRAF CBL CSF2 FLT3 KRAS NF1
4
TGF-Beta Pathway 64
Show member pathways
 13.66 BRAF CBL FLT3 KRAS NRAS PTPN11
5
Developmental Biology 66
Show member pathways
 13.61 BRAF CSF2 KRAS NF1 NRAS PTPN11
6
Akt Signaling 64
Show member pathways
 13.5 CSF2 FLT3 KRAS NRAS RAF1 RRAS
7
Integrin Pathway 64
Show member pathways
 13.49 ARHGAP26 BRAF KRAS NRAS RAF1 RRAS
8
Cytokine Signaling in Immune system 66
Show member pathways
 13.41 BRAF CBL CSF2 FLT3 KRAS NF1
9
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.4 BRAF CBL FLT3 KRAS NRAS RAF1
10
IL-2 Pathway 64
Show member pathways