JMML
MCID: JVN004
MIFTS: 68

Juvenile Myelomonocytic Leukemia (JMML)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Juvenile Myelomonocytic Leukemia

MalaCards integrated aliases for Juvenile Myelomonocytic Leukemia:

Name: Juvenile Myelomonocytic Leukemia 57 11 19 58 28 53 5 14 36 16 71 75
Leukemia, Juvenile Myelomonocytic 57 19 73 12 38
Jmml 57 19 58 73
Juvenile Myelomonocytic Leukaemia Without Mention of Remission 33
Leukemia, Juvenile Myelomonocytic, Somatic 57
Juvenile Chronic Myelomonocytic Leukemia 58
Juvenile Chronic Myelogenous Leukemia 73
Leukemia, Myelomonocytic, Juvenile 43

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one family has been reported with germline cbl mutation (last curated may 2016)


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0050458
OMIM® 57 607785
MeSH 43 D054429
NCIt 49 C9233
SNOMED-CT 68 445227008
ICD10 31 C93.3
MESH via Orphanet 44 D054429
ICD10 via Orphanet 32 C93.3
UMLS via Orphanet 72 C0349639
Orphanet 58 ORPHA86834
SNOMED-CT via HPO 69 128832006 277587001
UMLS 71 C0349639

Summaries for Juvenile Myelomonocytic Leukemia

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) (Updated 08-Dec-2022)

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 fatigue, fever 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 ERK Signaling and Disease. The drugs Cytarabine and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are juvenile myelomonocytic leukemia and Decreased viability

GARD: 19 A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly.

Orphanet: 58 A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent, while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected, with a clear male preponderance. Most patients present with constitutional symptoms, signs of infection, and hepatosplenomegaly.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.

Wikipedia: 75 Juvenile myelomonocytic leukemia (JMML) is a serious chronic leukemia (cancer of the blood) that affects... more...

Related Diseases for Juvenile Myelomonocytic Leukemia

Diseases in the Acute Myelomonocytic Leukemia family:

Juvenile Myelomonocytic Leukemia Chronic Myelomonocytic Leukemia

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

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 33.6 PTPN11 CBL
2 noonan syndrome 3 32.7 SOS1 RAF1 PTPN11 KRAS
3 noonan syndrome 1 32.6 SOS1 SETBP1 RRAS RIT1 RAF1 PTPN11
4 myelodysplastic/myeloproliferative neoplasm 32.6 TET2 SOS1 SETBP1 PTPN11 NRAS NF1
5 noonan syndrome 7 32.5 SPECC1 BRAF
6 leukemia 32.1 RUNX1 RAF1 PTPN11 NRAS NF1 FLT3
7 myeloproliferative neoplasm 32.0 TET2 RUNX1 PTPN11 NF1 FLT3 CSF2
8 neurofibromatosis 31.8 SOS1 PTPN11 NRAS NF1 KRAS BRAF
9 neurofibromatosis, type i 31.7 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
10 neurofibromatosis-noonan syndrome 31.7 SOS1 RRAS PTPN11 NF1
11 myelodysplastic syndrome 31.6 TET2 SETBP1 SAMD9L RUNX1 PTPN11 NRAS
12 leukemia, acute myeloid 31.5 TET2 SETBP1 SAMD9L RUNX1 PTPN11 NRAS
13 hematologic cancer 31.5 RUNX1 PTPN11 FLT3 CSF2 CBL
14 pseudo-turner syndrome 31.4 SOS1 RIT1 RAF1 PTPN11 NRAS KRAS
15 chronic myelomonocytic leukemia 31.4 TET2 SETBP1 RUNX1 PTPN11 NRAS NF1
16 rasopathy 31.3 SOS1 SETBP1 SAMD9L RRAS RIT1 RAF1
17 leukemia, acute lymphoblastic 31.2 RUNX1 PTPN11 KRAS FLT3 CSF2
18 myeloid leukemia 31.2 TET2 SETBP1 RUNX1 PTPN11 NRAS FLT3
19 refractory anemia 31.2 TET2 ASXL1
20 refractory anemia with excess blasts 31.2 TET2 SETBP1 ASXL1
21 leukemia, chronic myeloid 31.1 TET2 SETBP1 RUNX1 RAF1 PTPN11 NRAS
22 noonan syndrome with multiple lentigines 31.1 SOS1 RRAS RIT1 RAF1 PTPN11 NRAS
23 acute leukemia 31.1 SETBP1 RUNX1 KRAS FLT3 CSF2
24 costello syndrome 31.0 SOS1 RRAS RAF1 PTPN11 NRAS NF1
25 histiocytosis 31.0 NRAS CSF2 BRAF
26 hypertrophic cardiomyopathy 30.9 SOS1 RIT1 RAF1 PTPN11 NRAS KRAS
27 langerhans cell histiocytosis 30.9 NRAS CSF2 BRAF
28 cardiofaciocutaneous syndrome 1 30.8 SOS1 RRAS RIT1 RAF1 PTPN11 NRAS
29 deficiency anemia 30.8 NRAS FLT3 CSF2 CBL ASXL1
30 pancytopenia 30.8 SAMD9L RUNX1 FLT3 CSF2
31 schimmelpenning-feuerstein-mims syndrome 30.7 SOS1 NRAS NF1 KRAS
32 myelophthisic anemia 30.7 TET2 ASXL1
33 neutropenia 30.7 PTPN11 KRAS FLT3 CSF2
34 hydrops fetalis, nonimmune 30.7 RIT1 PTPN11 KRAS
35 nevus, epidermal 30.7 NRAS NF1 KRAS
36 blood platelet disease 30.6 TET2 RUNX1 FLT3 CSF2 ASXL1
37 systemic mastocytosis 30.5 TET2 PTPN11 CBL ASXL1
38 mastocytosis 30.5 TET2 FLT3 ASXL1
39 lymphoma 30.4 TET2 SETBP1 PTPN11 CBL BRAF
40 childhood leukemia 11.3
41 noonan syndrome 6 11.3
42 noonan syndrome 8 11.3
43 noonan syndrome 2 11.2
44 noonan syndrome 4 11.2
45 noonan syndrome 5 11.2
46 noonan syndrome 9 11.2
47 noonan syndrome 10 11.2
48 noonan syndrome 11 11.2
49 noonan syndrome 12 11.2
50 noonan syndrome 13 11.2

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



Diseases related to Juvenile Myelomonocytic Leukemia

Symptoms & Phenotypes for Juvenile Myelomonocytic Leukemia

Human phenotypes related to Juvenile Myelomonocytic Leukemia:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 juvenile myelomonocytic leukemia 30 HP:0012209

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
juvenile myelomonocytic leukemia

Clinical features from OMIM®:

607785 (Updated 08-Dec-2022)

UMLS symptoms related to Juvenile Myelomonocytic Leukemia:


fatigue; fever; exanthema

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

25 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.2 KRAS
2 Decreased viability GR00055-A-2 10.2 KRAS
3 Decreased viability GR00055-A-3 10.2 KRAS
4 Decreased viability GR00106-A-0 10.2 KRAS
5 Decreased viability GR00173-A 10.2 FLT3
6 Decreased viability GR00221-A-1 10.2 FLT3 KRAS NF1 NRAS RAF1
7 Decreased viability GR00221-A-2 10.2 KRAS NF1 RAF1
8 Decreased viability GR00221-A-3 10.2 NRAS
9 Decreased viability GR00221-A-4 10.2 FLT3 NF1
10 Decreased viability GR00249-S 10.2 NF1
11 Decreased viability GR00301-A 10.2 KRAS RAF1
12 Decreased viability GR00381-A-1 10.2 KRAS
13 Decreased viability GR00386-A-1 10.2 NF1
14 Decreased viability GR00402-S-2 10.2 RAF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.81 NF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.81 NF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.81 RAF1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.81 SOS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.81 CBL SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.81 SOS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.81 BRAF CBL NF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.81 RAF1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.81 CBL RAF1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.81 CBL
25 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.81 SOS1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.81 PTPN11
27 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.81 CBL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.81 CBL
29 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.81 CBL NF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.81 CBL
31 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.81 NF1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.81 BRAF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.81 RAF1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.81 SOS1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.81 PTPN11
36 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.81 RAF1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.81 NF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.81 PTPN11
39 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.81 CBL
40 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.81 SOS1
41 Increased cell migration GR00055-A-1 9.26 NF1
42 Increased cell migration GR00055-A-3 9.26 NF1

MGI Mouse Phenotypes related to Juvenile Myelomonocytic Leukemia:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.46 ASXL1 BRAF CBL CSF2 FLT3 KRAS
2 neoplasm MP:0002006 10.4 ASXL1 BRAF CSF2 FLT3 KRAS NF1
3 growth/size/body region MP:0005378 10.38 ASXL1 BRAF CBL CSF2 FLT3 KRAS
4 endocrine/exocrine gland MP:0005379 10.34 ASXL1 BRAF CBL CSF2 FLT3 KRAS
5 cellular MP:0005384 10.33 ARHGAP26 ASXL1 BRAF CBL CSF2 FLT3
6 immune system MP:0005387 10.3 ARHGAP26 ASXL1 BRAF CBL CSF2 FLT3
7 liver/biliary system MP:0005370 10.27 ASXL1 BRAF CBL KRAS NF1 NRAS
8 cardiovascular system MP:0005385 10.25 BRAF CBL CSF2 KRAS NF1 NRAS
9 behavior/neurological MP:0005386 10.25 ARHGAP26 ASXL1 BRAF CBL CSF2 KRAS
10 craniofacial MP:0005382 10.22 ASXL1 BRAF CBL CSF2 KRAS NF1
11 muscle MP:0005369 10.18 ARHGAP26 BRAF CBL KRAS NF1 PTPN11
12 embryo MP:0005380 10.16 BRAF CSF2 KRAS NF1 NRAS PTPN11
13 no phenotypic analysis MP:0003012 10.13 FLT3 KRAS NRAS PTPN11 RAF1 RUNX1
14 digestive/alimentary MP:0005381 10.1 ASXL1 BRAF KRAS NF1 NRAS PTPN11
15 hematopoietic system MP:0005397 10.09 ARHGAP26 ASXL1 BRAF CBL CSF2 FLT3
16 pigmentation MP:0001186 10.08 BRAF CBL KRAS NF1 NRAS PTPN11
17 skeleton MP:0005390 10.03 ASXL1 BRAF CBL CSF2 FLT3 KRAS
18 hearing/vestibular/ear MP:0005377 10.02 BRAF CBL KRAS NF1 PTPN11 RAF1
19 respiratory system MP:0005388 9.92 BRAF CBL CSF2 KRAS NF1 PTPN11
20 mortality/aging MP:0010768 9.86 ASXL1 BRAF CBL CSF2 FLT3 KRAS
21 integument MP:0010771 9.36 BRAF CBL CSF2 KRAS NF1 NRAS

Drugs & Therapeutics for Juvenile Myelomonocytic Leukemia

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

(show top 50) (show all 303)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
2 Antiviral Agents Phase 4
3
homoharringtonine Phase 4 3628
4
Lenograstim Approved, Investigational Phase 3 135968-09-1
5
Aldesleukin Approved Phase 3 110942-02-4
6
Etoposide Approved Phase 3 33419-42-0 36462
7
Daunorubicin Approved Phase 3 20830-81-3 30323
8
Idarubicin Approved Phase 3 58957-92-9 42890
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3 3680
10
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 3003 5743
11
Asparaginase Escherichia coli Approved, Investigational Phase 3 9015-68-3
12
Tioguanine Approved Phase 3 154-42-7 2723601
13
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
14
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
15
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
16
Lenalidomide Approved Phase 3 191732-72-6 216326
17
Abatacept Approved Phase 3 332348-12-6
18
Vedolizumab Approved Phase 3 943609-66-3
19
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
20
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
21
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
22
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643
23
Lonafarnib Approved, Investigational Phase 3 193275-84-2 148195
24
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
25
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
26
Pevonedistat Investigational Phase 3 905579-51-3 49831043
27 Anti-Inflammatory Agents Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Analgesics Phase 3
30 Hormones Phase 3
31 Hormone Antagonists Phase 3
32 Antiemetics Phase 3
33 glucocorticoids Phase 3
34 Protein Kinase Inhibitors Phase 3
35 Antineoplastic Agents, Hormonal Phase 3
36 Anti-Retroviral Agents Phase 3
37 Interleukin-2 Phase 3
38 Anti-HIV Agents Phase 3
39
Etoposide phosphate Phase 3 16760419
40
Muromonab-CD3 Phase 3
41 Calcium, Dietary Phase 3
42 BB 1101 Phase 3
43 ON 01910 Phase 3
44 N-Methylaspartate Phase 3
45 Hydrocortisone-17-butyrate Phase 3
46 Hydrocortisone 17-butyrate 21-propionate Phase 3
47 Hematinics Phase 3
48
Epoetin Alfa Phase 3
49 Gastrointestinal Agents Phase 3
50 Immune Checkpoint Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 294)
# Name Status NCT ID Phase Drugs
1 Treatment Plan for Hematologic Malignancies Using Intravenous Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide to Examine Results, Success and Side Effects of Treatment With Chemotherapy Only, as a Preparative Therapy for Patients With Cord Blood Transplants Unknown status NCT01339988 Phase 4 Busulfan/Cyclophosphamide
2 The Efficacy and Safety of Azacytidine Combined With HAG Regimen Versus Azacytidine for Elderly Patients With Newly Diagnosed Myeloid Malignancy: a Prospective, Randomized Controlled Trial Recruiting NCT03873311 Phase 4 Azacytidine, HAG Regimen;Azacytidine
3 A Phase III Randomized Trial of G-CSF Stimulated Bone Marrow vs. Conventional Bone Marrow as a Stem Cell Source In Matched Sibling Donor Transplantation Completed NCT00450450 Phase 3
4 Hematopoietic Stem Cell Transplantation Using Matched Unrelated Donor Peripheral Blood or Bone Marrow for Patients With Hematologic Malignancies Completed NCT00152139 Phase 3 Chemotherapy and antibodies
5 Haploidentical Stem Cell Transplantation Utilizing Purified CD34+ Hematopoietic Cells for Patients With Hematologic Malignancies Completed NCT00186823 Phase 3 TBI, systemic chemotherapy and antibodies as follows:
6 A Randomized Double Blinded Trial of Topical Caphosol to Prevent Oral Mucositis in Children Undergoing Hematopoietic Stem Cell Transplantation Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
7 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
8 Phase IIIB, Open-label, Multi-Center Study of the Efficacy and Safety of Rigosertib Administered as 72-hour Continuous Intravenous Infusions in Patients With Myelodysplastic Syndrome With Excess Blasts Progressing On or After Azacitidine or Decitabine Completed NCT01928537 Phase 3 rigosertib sodium
9 A PHASE III STUDY IN CHILDREN WITH UNTREATED ACUTE MYELOGENOUS LEUKEMIA (AML) OR MYELODYSPLASTIC SYNDROME (MDS) Completed NCT00002798 Phase 3 asparaginase;daunorubicin hydrochloride;fludarabine phosphate;therapeutic hydrocortisone;cytarabine;idarubicin;dexamethasone;thioguanine;etoposide;methotrexate;cyclophosphamide;busulfan
10 Phase III MultiCenter Randomized Controlled Study to Assess Efficacy and Safety of ON 01910.Na 72-Hr Continuous IV Infusion in MDS Patients With Excess Blasts Relapsing After or Refractory to or Intolerant to Azacitidine or Decitabine Completed NCT01241500 Phase 3 ON 01910.Na
11 Randomized Phase III Trial Comparing the Frequency of Major Erythroid Response (MER) to Treatment With Lenalidomide (Revlimid�) Alone and in Combination With Epoetin Alfa (Procrit�) in Subjects With Low- or Intermediate-1 Risk MDS and Symptomatic Anemia Active, not recruiting NCT00843882 Phase 3 Lenalidomide
12 A Randomized, Double-blind, Placebo-controlled Phase III Multi-center Study of Azacitidine With or Without MBG453 for the Treatment of Patients With Intermediate, High or Very High Risk Myelodysplastic Syndrome (MDS) as Per IPSS-R, or Chronic Myelomonocytic Leukemia-2 (CMML-2) Active, not recruiting NCT04266301 Phase 3 MBG453;Azacitidine;Placebo
13 A Phase 3, Randomized, Open-Label, Crossover Study of ASTX727 (Cedazuridine and Decitabine Fixed-Dose Combination) Versus IV Decitabine in Subjects With Myelodysplastic Syndromes (MDS), Chronic Myelomonocytic Leukemia (CMML), and Acute Myeloid Leukemia (AML) Active, not recruiting NCT03306264 Phase 3 ASTX727;Dacogen
14 A Phase 3, Randomized, Controlled, Open-label, Clinical Study of Pevonedistat Plus Azacitidine Versus Single-Agent Azacitidine as First-Line Treatment for Patients With Higher-Risk Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, or Low-Blast Acute Myelogenous Leukemia Active, not recruiting NCT03268954 Phase 3 Azacitidine;Pevonedistat
15 A MULTI-CENTER CONTINUATION STUDY EVALUATING AZACITIDINE WITH OR WITHOUT GLASDEGIB (PF-04449913) IN PATIENTS WITH PREVIOUSLY UNTREATED ACUTE MYELOID LEUKEMIA, MYELODYSPLASTIC SYNDROME OR CHRONIC MYELOMONOCYTIC LEUKEMIA Active, not recruiting NCT04842604 Phase 3 Glasdegib;Azacitidine
16 Prospective Pilot Study of the Clinical Efficacy and Safety of the Method for Preventing a Graft-versus-host Disease Through the Agency of Using the Combination of Post-transplantation Cyclophosphamide With Abatacept, Vedolizumab and Calcineurin Inhibitor at Children and Young Adults With Hemoblastosis After Hematopoietic Stem Cell Transplantation From an Unrelated or Haploidentic Donor Not yet recruiting NCT05515029 Phase 3
17 A Pivotal Randomized Study of Lonafarnib Versus Placebo in the Treatment of Subjects With Myelodysplastic Syndrome (MDS) or Chronic Myelomonocytic Leukemia (CMML) Who Are Platelet Transfusion Dependent With or Without Anemia Terminated NCT00109538 Phase 3 Lonafarnib
18 Randomized Study to Compare Post Bone Marrow Transplant Cyclophosphamide With the Combination of Methotrexate Plus Calcineurin Inhibitor for Graft Versus Host Disease Prophylaxis Terminated NCT01749111 Phase 3 ARM A Cyclophosphamide;ARM B Calcineurin inhibitor and methotrexate
19 A Phase I/II, Open-Label, Multicenter Study of the Safety, Efficacy and Immune Response of Histamine Dihydrochloride and Low-dose Interleukin-2 in Chronic Myelomonocytic Leukemia (CMML) Unknown status NCT03040401 Phase 1, Phase 2 Cohort 1, Ceplene® and Proleukin®;Cohort 2, Ceplene® and Proleukin®;Cohort 3, Ceplene® and Proleukin®
20 A Phase II Study of the Efficacy and Safety of Lenalidomide Combined to Escalating Doses of Chemotherapy in Intermediate-2-or High Risk MDS and AML With Del 5q Unknown status NCT00885508 Phase 2 Lenalidomide
21 A Phase 1b/2 Study to Evaluate the Safety and Efficacy of APR-246 in Combination With Azacitidine for the Treatment of Mutation TP53 (TP53) Mutant Myeloid Neoplasms Unknown status NCT03588078 Phase 1, Phase 2 APR-246;Azacitidine
22 Use of Decitabine in Myelodysplastic Syndrome (MDS) Following Azacitidine (AZA) Failure Unknown status NCT01133886 Phase 2 Decitabine
23 Comparison Between 5-azacytidine Treatment and 5-azacytidine Followed by Allogeneic Stem Cell Transplantation in Elderly Patients With Advanced MDS According to Donor Availability Unknown status NCT01404741 Phase 2
24 A Phase I/II Study of Lenalidomide in Patients With Chronic Myelomonocytic Leukemia Unknown status NCT01368757 Phase 1, Phase 2 Revlimid
25 Hematopoietic Cell Transplantation in Children With Juvenile Myelomonocytic Leukemia Completed NCT00167219 Phase 1, Phase 2 Preparative Regimen
26 Phase II Window Evaluation of the Farnesyl Transferase Inhibitor (R115777) Followed by 13-CIS Retinoic Acid, Cytosine Arabinoside and Fludarabine Plus Hematopoietic Stem Cell Transplantation in Children With Juvenile Myelomonocytic Leukemia Completed NCT00025038 Phase 2 tipifarnib;isotretinoin;fludarabine phosphate;cytarabine;cyclophosphamide
27 A Phase 2, Multicenter, Open-label Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Safety and Activity of Azacitidine and to Compare Azacitidine to Historical Controls in Pediatric Subjects With Newly Diagnosed Advanced Myelodysplastic Syndrome or Juvenile Myelomonocytic Leukemia Before Hematopoietic Stem Cell Transplantation Completed NCT02447666 Phase 2 Azacitidine
28 A Randomized Phase II Study Comparing Two Different Conditioning Regimens Prior to Allogeneic Hematopoietic Cell Transplantation (HCT) for Children With Juvenile Myelomonocytic Leukemia (JMML) Completed NCT01824693 Phase 2 Busulfan;Cyclophosphamide;Fludarabine Phosphate;Melphalan;Mycophenolate Mofetil;Tacrolimus
29 A Phase II Study to Evaluate the Efficacy of Oral Beclomethasone Dipropionate for Prevention of Acute GVHD After Hematopoietic Cell Transplantation With Myeloablative Conditioning Regimens Completed NCT00489203 Phase 2 beclomethasone dipropionate;placebo;tacrolimus;methotrexate
30 Prolonged Mycophenolate Mofetil and Truncated Cyclosporine Postgrafting Immunosuppression to Reduce Life-Threatening GVHD After Unrelated Donor Peripheral Blood Cell Transplantation Using Nonmyeloablative Conditioning for Patients With Hematologic Malignancies and Renal Cell Carcinoma - A Multi-Center Trial Completed NCT00078858 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
31 Induction of Mixed Hematopoietic Chimerism in Patients Using Fludarabine, Low Dose TBI, PBSC Infusion and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00006251 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
32 A Reduced Intensity Conditioning Regimen With CD3-Depleted Hematopoietic Stem Cells to Improve Survival for Patients With Hematologic Malignancies Undergoing Haploidentical Stem Cell Transplantation Completed NCT00566696 Phase 2 Fludarabine;Thioplex®;L-phenylalanine mustard;Mycophenolate mofetil;Rituxan™;Alemtuzumab;Cyclophosphamide;Anti-thymocyte globulin (Rabbit);G-CSF;Muromonab
33 Umbilical Cord Blood (UCB) Allogeneic Stem Cell Transplant for Hematologic Malignancies Completed NCT01093586 Phase 2 busulfan;cyclophosphamide;anti-thymocyte globulin;methylprednisolone;cyclosporine;mycophenolate mofetil
34 Haploidentical Stem Cell Transplantation Utilizing T-Cell Depletion as Therapy for Patients With Refractory Hematological Malignancies Completed NCT00145613 Phase 2 Systemic chemotherapy and antibodies
35 Haploidentical Hematopoietic Stem Cell Transplantation Utilizing Partial T-Cell Depletion as Immunotherapy for Hematologic Malignancies Completed NCT00143559 Phase 2 Systematic chemotherapy and antibodies
36 A Phase II Study of Preemptive Fast Withdrawal of Immunosuppression and Donor Lymphocyte Infusions for Achieving Complete Donor Chimerism Following Allogeneic Transplant for Pediatric Hematologic Malignancies Completed NCT01036009 Phase 2
37 Soluble Tumor Necrosis Factor Receptor: Enbrel® (Etanercept) for the Treatment of Acute Non-Infectious Pulmonary Dysfunction (Idiopathic Pneumonia Syndrome) Following Allogeneic Stem Cell Transplantation Completed NCT00309907 Phase 2 methylprednisolone
38 A Phase II Study of Risk-adapted Donor Lymphocyte Infusion and Azacitidine for the Prevention of Hematologic Malignancy Relapse Following Allogeneic Stem Cell Transplantation Completed NCT02458235 Phase 2 azacitidine
39 Campath (Alemtuzumab) Dose Escalation, Low-Dose TBI and Fludarabine Followed by HLA Class II Mismatched Donor Stem Cell Transplantation for Patients With Hematologic Malignancies: A Multicenter Trial Completed NCT00118352 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
40 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
41 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
42 A Phase I/II Study of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib (BAY 43-9006, NSC# 724772) in Children With Refractory Solid Tumors or Refractory Leukemias Completed NCT01445080 Phase 1, Phase 2 Sorafenib Tosylate
43 Clinical Phase II Trial to Describe the Safety and Efficacy of Treosulfan-based Conditioning Therapy Prior to Allogeneic Haematopoietic Stem Cell Transplantation in Paediatric Patients With Haematological Malignancies Completed NCT02333058 Phase 2 Treosulfan
44 Phase II Study of Shortened-duration Tacrolimus Following Nonmyeloablative Peripheral Blood Stem Cell Transplant With High-dose Posttransplantation Cyclophosphamide in Malignancies That Are Challenging to Engraft Completed NCT02556931 Phase 2 Fludarabine;Cyclophosphamide;Tacrolimus;Mycophenolate mofetil
45 A Multi-Center Study of Conditioning With Treosulfan, Fludarabine and Escalating Doses of TBI for Allogeneic Hematopoietic Cell Transplantation in Patients With Acute Myeloid Leukemia (AML) Myelodysplastic Syndrome (MDS), and Acute Lymphoblastic Leukemia (ALL) Completed NCT00860574 Phase 2 treosulfan;fludarabine phosphate;tacrolimus;methotrexate
46 A Phase II Study of and Oral Histone Deacytylase Inhibitor, MS-275 (NSC 706995), in Combination With Sargramostim (GM-CSF, Berlex, Inc.) Treating Relapsed and Refractory Myeloid Malignancies Completed NCT00462605 Phase 2 entinostat;sargramostim
47 A Phase II Study of Sunitinib Malate (Sutent®; SU11248) in Patients With Intermediate-2 or High-Risk Myelodysplastic Syndrome or Chronic Myelomonocytic Leukemia Completed NCT00451048 Phase 2 sunitinib malate
48 A Phase 2 Study of WEE1 Inhibition With AZD1775 Alone or Combined With Cytarabine in Patients With Advanced Acute Myeloid Leukemia and Myelodysplastic Syndrome Completed NCT02666950 Phase 2 Cytarabine;WEE1 Inhibitor AZD1775
49 Prevention of DMSO-Related Nausea and Vomiting by Prophylactic Administration of Ondansetron for Patients Receiving Autologous Cryopreserved Peripheral Blood Stem Cells Completed NCT00795769 Phase 2 ondansetron
50 Low-Dose TBI Dose Escalation to Decrease Risks of Progression and Graft Rejection After Hematopoietic Cell Transplantation With Nonmyeloablative Conditioning as Treatment for Untreated Myelodysplastic Syndrome or Myeloproliferative Disorders - A Multi-Center Trial Completed NCT00397813 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil

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

Genetic Tests for Juvenile Myelomonocytic Leukemia

Genetic tests related to Juvenile Myelomonocytic Leukemia:

# Genetic test Affiliating Genes
1 Juvenile Myelomonocytic Leukemia 28 ARHGAP26 CBL NF1 PTPN11

Anatomical Context for Juvenile Myelomonocytic Leukemia

Organs/tissues related to Juvenile Myelomonocytic Leukemia:

MalaCards : Bone Marrow, Myeloid, Bone, Monocytes, Spleen, Liver, T Cells
ODiseA: Blood And Bone Marrow

Publications for Juvenile Myelomonocytic Leukemia

Articles related to Juvenile Myelomonocytic Leukemia:

(show top 50) (show all 934)
# Title Authors PMID Year
1
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 53 62 57 5
17332249 2007
2
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 53 62 57 5
12717436 2003
3
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. 62 57 5
25939664 2015
4
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 62 57 5
23832011 2013
5
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 62 57 5
19775298 2009
6
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 62 57 5
19571318 2009
7
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 62 57 5
15723289 2005
8
Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis. 53 62 5
19179468 2009
9
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 53 62 5
19047918 2009
10
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. 53 62 5
16518851 2006
11
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 53 62 5
15928039 2005
12
Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor. 53 62 5
15644411 2005
13
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 53 62 5
15834506 2005
14
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 53 62 5
15604238 2004
15
PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 53 62 5
15385933 2004
16
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. 53 62 5
14982869 2004
17
Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. 53 62 5
9639526 1998
18
Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment. 62 5
27783593 2016
19
Juvenile myelomonocytic leukaemia and Noonan syndrome. 62 5
25097206 2014
20
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 62 5
23756559 2013
21
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. 62 5
21901340 2012
22
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. 62 5
22315187 2012
23
Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells. 62 5
21930766 2011
24
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. 62 5
21063026 2011
25
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia. 62 5
20955399 2010
26
A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells. 62 5
20651068 2010
27
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 62 57
20543203 2010
28
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 62 5
20694012 2010
29
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. 62 57
20008299 2010
30
Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. 62 5
18758896 2008
31
Mutation analysis of SIPA1 in patients with juvenile myelomonocytic leukemia. 62 57
18492118 2008
32
Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations. 62 57
18182584 2008
33
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 62 5
15240615 2004
34
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 62 5
14644997 2004
35
The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q. 62 5
10908648 2000
36
Juvenile myelomonocytic leukemia and Noonan syndrome. 62 5
10598665 1999
37
Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. European Working Group on MDS in Childhood (EWOG-MDS). 62 57
10086728 1999
38
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
39
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 5
28628100 2017
40
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 5
26619011 2016
41
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 5
25808193 2015
42
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
43
Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing. 5
26509978 2015
44
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. 5
25383899 2014
45
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 5
24718990 2014
46
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 5
24628801 2014
47
Oncogenic Nras has bimodal effects on stem cells that sustainably increase competitiveness. 5
24284627 2013
48
Targeting protein tyrosine phosphatase SHP2 for the treatment of PTPN11-associated malignancies. 5
23825065 2013
49
The genetic landscape of high-risk neuroblastoma. 5
23334666 2013
50
[Clinical and molecular study of the Noonan syndrome]. 5
23513489 2012

Variations for Juvenile Myelomonocytic Leukemia

ClinVar genetic disease variations for Juvenile Myelomonocytic Leukemia:

5 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARHGAP26 NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) SNV Pathogenic
5052 rs121918546 GRCh37: 5:142421420-142421420
GRCh38: 5:143041855-143041855
2 ARHGAP26 ARHGAP26, 52-BP INS INSERT Pathogenic
5053 GRCh37:
GRCh38:
3 ARHGAP26 ARHGAP26, 74-BP INS INSERT Pathogenic
5054 GRCh37:
GRCh38:
4 PTPN11 NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) SNV Pathogenic
13338 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
5 PTPN11 NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) SNV Pathogenic
13339 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
6 CBL NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) SNV Pathogenic
29824 rs387906666 GRCh37: 11:119148892-119148892
GRCh38: 11:119278182-119278182
7 NF1 NM_001042492.3(NF1):c.6897del (p.Lys2300fs) DEL Pathogenic
1527847 GRCh37: 17:29665798-29665798
GRCh38: 17:31338780-31338780
8 NF1 NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) SNV Pathogenic
576444 rs1567847905 GRCh37: 17:29554250-29554250
GRCh38: 17:31227232-31227232
9 NF1 NM_001042492.3(NF1):c.3870+1G>T SNV Pathogenic
565498 rs1131691075 GRCh37: 17:29562791-29562791
GRCh38: 17:31235773-31235773
10 NF1 NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) SNV Pathogenic
570950 rs1567862991 GRCh37: 17:29587499-29587499
GRCh38: 17:31260481-31260481
11 NF1 NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) SNV Pathogenic
187652 rs786203896 GRCh37: 17:29657486-29657486
GRCh38: 17:31330468-31330468
12 NF1 NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) SNV Pathogenic
428948 rs1131691073 GRCh37: 17:29667571-29667571
GRCh38: 17:31340553-31340553
13 PTPN11 NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) SNV Pathogenic
40512 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
14 CBL NM_005188.4(CBL):c.1111T>C (p.Tyr371His) SNV Pathogenic
13811 rs267606706 GRCh37: 11:119148891-119148891
GRCh38: 11:119278181-119278181
15 NF1 NM_001042492.3(NF1):c.1642-8A>G SNV Pathogenic
352 rs267606602 GRCh37: 17:29548860-29548860
GRCh38: 17:31221842-31221842
16 NF1 NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) SNV Pathogenic
233869 rs876660696 GRCh37: 17:29662034-29662034
GRCh38: 17:31335016-31335016
17 NF1 NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) SNV Pathogenic
350 rs137854555 GRCh37: 17:29588828-29588828
GRCh38: 17:31261810-31261810
18 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) SNV Pathogenic
13901 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
19 NF1 NF1, IVS34, G-A, +18 SNV Pathogenic
351 GRCh37:
GRCh38:
20 PTPN11 NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) SNV Pathogenic
228392 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
21 ASXL1 NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) DEL Pathogenic
812900 rs766433101 GRCh37: 20:31022403-31022425
GRCh38: 20:32434600-32434622
22 PTPN11 NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) SNV Pathogenic
13337 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
23 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic
39648 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
24 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic
177778 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
25 NF1 NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) SNV Pathogenic
184261 rs786201367 GRCh37: 17:29684326-29684326
GRCh38: 17:31357308-31357308
26 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic
40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
27 NF1 NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic
230673 rs778405030 GRCh37: 17:29533315-29533315
GRCh38: 17:31206297-31206297
28 NF1 NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) SNV Pathogenic
185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
29 NF1 NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) SNV Pathogenic
343 rs137854552 GRCh37: 17:29661945-29661945
GRCh38: 17:31334927-31334927
30 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic
40489 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
31 PTPN11 NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) SNV Pathogenic
13336 rs121918464 GRCh37: 12:112888210-112888210
GRCh38: 12:112450406-112450406
32 PTPN11 NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) SNV Pathogenic
40556 rs121918458 GRCh37: 12:112926884-112926884
GRCh38: 12:112489080-112489080
33 PTPN11 NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) SNV Pathogenic
13332 rs121918458 GRCh37: 12:112926884-112926884
GRCh38: 12:112489080-112489080
34 KRAS NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) SNV Pathogenic
12580 rs112445441 GRCh37: 12:25398281-25398281
GRCh38: 12:25245347-25245347
35 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic
12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
36 KRAS NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic
12584 rs121913530 GRCh37: 12:25398285-25398285
GRCh38: 12:25245351-25245351
37 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val) SNV Pathogenic
12583 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
38 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic
Pathogenic
40558 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
39 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic
13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
40 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic
Pathogenic
40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
41 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic
13340 rs121918466 GRCh37: 12:112888220-112888220
GRCh38: 12:112450416-112450416
42 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic
13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
43 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic
13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
44 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic
13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
45 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic
68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
46 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic
336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
47 NF1 NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) SNV Pathogenic
208854 rs771529172 GRCh37: 17:29654737-29654737
GRCh38: 17:31327719-31327719
48 NF1 NM_001042492.3(NF1):c.6006+1G>A SNV Pathogenic
488817 rs1555534433 GRCh37: 17:29662050-29662050
GRCh38: 17:31335032-31335032
49 NF1 NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) SNV Pathogenic
185082 rs772295894 GRCh37: 17:29665757-29665757
GRCh38: 17:31338739-31338739
50 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV Pathogenic
40487 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352

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

73 (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.Gly503Ala VAR_016002 rs397507546
17 PTPN11 p.Gly503Arg VAR_016003 rs397507545
18 SETBP1 p.Asp868Asn VAR_063807 rs267607042

Expression for Juvenile Myelomonocytic Leukemia

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

Pathways for Juvenile Myelomonocytic Leukemia

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

(show top 50) (show all 135)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 SOS1 RRAS RAF1 NRAS NF1 KRAS
2
Show member pathways
13.9 BRAF CBL FLT3 KRAS NF1 NRAS
3 13.78 ARHGAP26 BRAF CBL CSF2 FLT3 KRAS
4
Show member pathways
13.71 BRAF CSF2 FLT3 KRAS NRAS RAF1
5
Show member pathways
13.63 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
6
Show member pathways
13.57 SOS1 RRAS RAF1 PTPN11 NRAS NF1
7
Show member pathways
13.48 SOS1 RRAS RAF1 NRAS KRAS BRAF
8
Show member pathways
13.48 SOS1 RRAS RAF1 NRAS KRAS FLT3
9
Show member pathways
13.44 BRAF CBL CSF2 FLT3 KRAS NF1
10
Show member pathways
13.41 SOS1 PTPN11 NRAS KRAS FLT3 CSF2
11
Show member pathways
13.38 SOS1 RRAS RAF1 NRAS KRAS FLT3
12
Show member pathways
13.16 BRAF KRAS NRAS RAF1 RRAS SOS1
13
Show member pathways
13.01 SOS1 RAF1 NRAS KRAS FLT3
14
Show member pathways
12.99 BRAF KRAS NRAS RAF1 RRAS
15
Show member pathways
12.99 SOS1 RRAS RAF1 NRAS KRAS CBL
16
Show member pathways
12.98 SOS1 RRAS RAF1 NRAS KRAS
17
Show member pathways
12.97 SOS1 RRAS RAF1 NRAS KRAS BRAF
18
Show member pathways
12.96 SOS1 RRAS RAF1 NRAS KRAS BRAF
19
Show member pathways
12.94 BRAF CBL KRAS NRAS RAF1 SOS1
20
Show member pathways
12.92 SOS1 RAF1 NRAS KRAS BRAF
21
Show member pathways
12.92 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
22 12.9 BRAF CBL FLT3 KRAS NRAS PTPN11
23
Show member pathways
12.88 SOS1 RRAS RAF1 NRAS KRAS CBL
24
Show member pathways
12.81 SOS1 RAF1 NRAS NF1 KRAS CBL
25
Show member pathways
12.8 SOS1 PTPN11 NRAS KRAS FLT3
26
Show member pathways
12.8 BRAF KRAS NRAS RAF1 RRAS SOS1
27 12.79 SOS1 RAF1 FLT3 CSF2 ASXL1
28
Show member pathways
12.78 SOS1 RRAS RAF1 NRAS KRAS BRAF
29
Show member pathways
12.77 RRAS RAF1 NRAS KRAS BRAF
30
Show member pathways
12.77 SOS1 RRAS RAF1 NRAS KRAS BRAF
31
Show member pathways
12.69 SOS1 PTPN11 NRAS KRAS CBL BRAF
32
Show member pathways
12.67 BRAF KRAS NRAS PTPN11 RIT1 SOS1
33
Show member pathways
12.63 SOS1 RRAS RAF1 NF1 BRAF
34
Show member pathways
12.58 SOS1 RAF1 PTPN11 CBL
35
Show member pathways
12.58 BRAF KRAS NRAS PTPN11 RAF1 SOS1
36
Show member pathways
12.55 SOS1 RRAS RAF1 NRAS KRAS
37
Show member pathways
12.55 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
38
Show member pathways
12.54 SOS1 PTPN11 NRAS KRAS CBL
39
Show member pathways
12.53 SOS1 RAF1 PTPN11 BRAF
40
Show member pathways
12.53 SOS1 RAF1 PTPN11 NRAS KRAS CBL
41
Show member pathways
12.52 BRAF KRAS NF1 PTPN11 RAF1 SOS1
42
Show member pathways
12.47 SOS1 RRAS RAF1 CBL
43
Show member pathways
12.46 SOS1 RRAS RAF1 NRAS KRAS CBL
44
Show member pathways
12.44 RAF1 PTPN11 NRAS KRAS CBL
45
Show member pathways
12.42 SOS1 RAF1 PTPN11 CBL
46
Show member pathways
12.41 SOS1 PTPN11 KRAS CSF2 CBL
47
Show member pathways
12.4 BRAF CBL FLT3 KRAS NRAS RAF1
48
Show member pathways
12.39 SOS1 RAF1 PTPN11 CBL
49
Show member pathways
12.39 SOS1 RAF1 PTPN11 CBL BRAF
50 12.39 SOS1 RRAS RAF1 NRAS NF1 KRAS

GO Terms for Juvenile Myelomonocytic Leukemia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.27 ARHGAP26 BRAF CBL KRAS NF1 NRAS
2 cytokine-mediated signaling pathway GO:0019221 10.14 SOS1 PTPN11 FLT3 CBL
3 visual learning GO:0008542 10 NF1 KRAS BRAF
4 thymus development GO:0048538 9.97 RAF1 BRAF ASXL1
5 MAPK cascade GO:0000165 9.96 RAF1 NRAS NF1 KRAS BRAF
6 regulation of cell population proliferation GO:0042127 9.87 SOS1 NF1 FLT3 CSF2 BRAF
7 myeloid progenitor cell differentiation GO:0002318 9.81 FLT3 BRAF
8 leukocyte differentiation GO:0002521 9.78 RRAS TET2
9 negative regulation of Schwann cell migration GO:1900148 9.76 RRAS NF1
10 Schwann cell migration GO:0036135 9.73 RRAS NF1
11 forebrain astrocyte development GO:0021897 9.71 NF1 KRAS
12 neurotrophin TRK receptor signaling pathway GO:0048011 9.63 PTPN11 RAF1 SOS1
13 epidermal growth factor receptor signaling pathway GO:0007173 9.56 SOS1 PTPN11 CBL BRAF
14 Ras protein signal transduction GO:0007265 9.4 SOS1 RRAS RIT1 NRAS NF1 KRAS

Molecular functions related to Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein activity GO:0003925 9.43 RIT1 NRAS KRAS
2 protein serine/threonine kinase activator activity GO:0043539 9.33 SOS1 RAF1 KRAS
3 GDP binding GO:0019003 9.23 RRAS RIT1 NRAS KRAS

Sources for Juvenile Myelomonocytic Leukemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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