JMML
MCID: JVN004
MIFTS: 67

Juvenile Myelomonocytic Leukemia (JMML)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Juvenile Myelomonocytic Leukemia

MalaCards integrated aliases for Juvenile Myelomonocytic Leukemia:

Name: Juvenile Myelomonocytic Leukemia 56 12 52 58 29 54 6 15 37 17 71
Leukemia, Juvenile Myelomonocytic 56 52 73 13 39
Jmml 56 52 58 73
Leukemia, Juvenile Myelomonocytic, Somatic 56
Juvenile Chronic Myelomonocytic Leukemia 58
Juvenile Chronic Myelogenous Leukemia 73
Leukemia, Myelomonocytic, Juvenile 43

Characteristics:

Orphanet epidemiological data:

58
juvenile myelomonocytic leukemia
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
somatic mutation
autosomal dominant

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


HPO:

31
juvenile myelomonocytic leukemia:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050458
OMIM 56 607785
MeSH 43 D054429
NCIt 49 C9233
SNOMED-CT 67 128832006 445227008
ICD10 32 C93.3
MESH via Orphanet 44 D054429
ICD10 via Orphanet 33 C93.3
UMLS via Orphanet 72 C0349639
Orphanet 58 ORPHA86834
SNOMED-CT via HPO 68 124975008 263681008 277587001
UMLS 71 C0349639

Summaries for Juvenile Myelomonocytic Leukemia

OMIM : 56 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 myelodysplastic/myeloproliferative neoplasm, 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 Signaling by GPCR and Innate Immune System. The drugs Mercaptopurine and Lorazepam have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are juvenile myelomonocytic leukemia and Decreased shRNA abundance (Z-score < -2)

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

UniProtKB/Swiss-Prot : 73 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 : 74 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 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 204)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 35.5 PTPN11 CBL
2 myelodysplastic/myeloproliferative neoplasm 33.8 SETBP1 PTPN11 NRAS NF1 JAK2 FLT3
3 noonan syndrome 1 33.3 SOS1 RRAS RIT1 RAF1 PTPN11 NRAS
4 noonan syndrome 3 33.3 SOS1 RAF1 PTPN11 KRAS
5 myeloproliferative neoplasm 32.1 RUNX1 PTPN11 NRAS NF1 JAK2 FLT3
6 leukemia 32.0 SOS1 RUNX1 RAF1 PTPN11 NRAS NF1
7 splenomegaly 31.9 SETBP1 JAK2 ARHGAP26
8 myelodysplastic syndrome 31.6 SETBP1 SAMD9L RUNX1 PTPN11 NRAS NF1
9 leukemia, acute myeloid 31.6 SETBP1 SAMD9L RUNX1 PTPN11 NRAS NF1
10 myeloid leukemia 31.5 RUNX1 RAF1 PTPN11 NRAS KRAS JAK2
11 chronic myelomonocytic leukemia 31.5 SETBP1 RUNX1 PTPN11 NRAS NF1 KRAS
12 leukemia, acute lymphoblastic 31.4 RUNX1 PTPN11 KRAS JAK2 FLT3 CSF2
13 acute leukemia 31.3 SETBP1 RUNX1 KRAS JAK2 FLT3 CSF2
14 costello syndrome 31.2 SOS1 PTPN11 NF1 KRAS BRAF
15 leukemia, chronic myeloid 31.2 SETBP1 RUNX1 RAF1 PTPN11 NRAS NF1
16 langerhans cell histiocytosis 31.2 NRAS CSF2 BRAF
17 histiocytosis 31.2 NRAS CSF2 BRAF
18 systemic mastocytosis 31.1 PTPN11 NRAS JAK2 ASXL1
19 monocytic leukemia 31.1 RUNX1 FLT3 CSF2
20 mastocytosis 31.1 PTPN11 JAK2 FLT3 CBL ASXL1
21 legius syndrome 31.0 PTPN11 NF1 ASXL1
22 nevus, epidermal 31.0 NRAS NF1 KRAS
23 pancytopenia 30.9 SAMD9L RUNX1 FLT3 CSF2
24 rasopathy 30.9 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
25 hypertrophic cardiomyopathy 30.9 SOS1 RAF1 PTPN11 KRAS BRAF
26 lymphoma 30.8 RAF1 PTPN11 NRAS CSF2 CBL BRAF
27 acute promyelocytic leukemia 30.8 RUNX1 NRAS KRAS FLT3 CSF2 CBL
28 oculoectodermal syndrome 30.8 RRAS NRAS KRAS
29 noonan syndrome with multiple lentigines 30.6 SOS1 RRAS RAF1 PTPN11 NF1 KRAS
30 cardiofaciocutaneous syndrome 1 30.6 SOS1 RRAS RAF1 PTPN11 NRAS NF1
31 noonan syndrome 6 11.8
32 noonan syndrome 8 11.8
33 noonan syndrome 2 11.5
34 noonan syndrome 4 11.5
35 noonan syndrome 5 11.5
36 noonan syndrome 7 11.5
37 noonan syndrome 9 11.5
38 noonan syndrome 10 11.5
39 noonan syndrome 11 11.5
40 noonan syndrome 12 11.5
41 lentigines 10.8 RAF1 PTPN11 BRAF
42 urachal adenocarcinoma 10.8 NF1 KRAS BRAF
43 skin granular cell tumor 10.8 SOS1 PTPN11 NF1
44 acneiform dermatitis 10.8 NRAS KRAS BRAF
45 neurofibromatosis-noonan syndrome 10.7 SOS1 PTPN11 NF1
46 melphalan allergy 10.7 NRAS BRAF
47 noonan syndrome and noonan-related syndrome 10.7 SOS1 RAF1 PTPN11 BRAF
48 acute monoblastic leukemia 10.7 SOS1 NF1 CSF2
49 serous cystadenocarcinoma 10.7 NRAS KRAS BRAF
50 pilomyxoid astrocytoma 10.7 RAF1 NF1 KRAS BRAF

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:

31
# Description HPO Frequency HPO Source Accession
1 juvenile myelomonocytic leukemia 31 HP:0012209

Symptoms via clinical synopsis from OMIM:

56
Hematology:
juvenile myelomonocytic leukemia

Clinical features from OMIM:

607785

UMLS symptoms related to Juvenile Myelomonocytic Leukemia:


fatigue, fever, exanthema

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

26 (show all 44)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.13 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.13 BRAF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.13 CBL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.13 PTPN11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.13 SOS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.13 PTPN11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.13 CBL
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.13 PTPN11
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.13 CBL
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.13 CBL
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.13 PTPN11 RAF1 SOS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.13 RAF1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.13 BRAF
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.13 BRAF
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.13 PTPN11
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.13 BRAF
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.13 SOS1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.13 RAF1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.13 BRAF
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.13 BRAF
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.13 BRAF
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.13 PTPN11
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.13 CBL
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.13 CBL
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.13 PTPN11
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.13 SOS1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.13 BRAF
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 10.13 NF1
29 Decreased viability GR00055-A-1 9.97 CBL KRAS
30 Decreased viability GR00055-A-2 9.97 CBL KRAS
31 Decreased viability GR00055-A-3 9.97 KRAS
32 Decreased viability GR00106-A-0 9.97 KRAS
33 Decreased viability GR00173-A 9.97 FLT3
34 Decreased viability GR00221-A-1 9.97 KRAS NF1 RAF1 FLT3 NRAS
35 Decreased viability GR00221-A-2 9.97 CBL JAK2 KRAS NF1 RAF1
36 Decreased viability GR00221-A-3 9.97 CBL NRAS
37 Decreased viability GR00221-A-4 9.97 NF1 FLT3
38 Decreased viability GR00249-S 9.97 NF1
39 Decreased viability GR00301-A 9.97 KRAS RAF1
40 Decreased viability GR00381-A-1 9.97 KRAS
41 Decreased viability GR00386-A-1 9.97 NF1
42 Decreased viability GR00402-S-2 9.97 RAF1
43 Decreased cell migration GR00055-A-1 9.7 SOS1 ARHGAP26
44 Decreased cell migration GR00055-A-3 9.7 BRAF CBL

MGI Mouse Phenotypes related to Juvenile Myelomonocytic Leukemia:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.44 ASXL1 BRAF CBL CSF2 JAK2 KRAS
2 cellular MP:0005384 10.42 ASXL1 BRAF CBL CSF2 FLT3 JAK2
3 homeostasis/metabolism MP:0005376 10.41 ASXL1 BRAF CBL CSF2 FLT3 JAK2
4 cardiovascular system MP:0005385 10.4 BRAF CBL CSF2 JAK2 KRAS NF1
5 hematopoietic system MP:0005397 10.4 ASXL1 BRAF CBL CSF2 FLT3 JAK2
6 growth/size/body region MP:0005378 10.37 ASXL1 BRAF CBL CSF2 FLT3 JAK2
7 immune system MP:0005387 10.36 ASXL1 BRAF CBL CSF2 FLT3 JAK2
8 endocrine/exocrine gland MP:0005379 10.35 ASXL1 BRAF CBL CSF2 FLT3 JAK2
9 craniofacial MP:0005382 10.31 ASXL1 BRAF CBL CSF2 KRAS NF1
10 mortality/aging MP:0010768 10.27 ASXL1 BRAF CBL CSF2 FLT3 JAK2
11 embryo MP:0005380 10.25 BRAF CSF2 JAK2 KRAS NF1 NRAS
12 integument MP:0010771 10.21 BRAF CBL CSF2 JAK2 KRAS NF1
13 digestive/alimentary MP:0005381 10.16 ASXL1 BRAF KRAS NF1 NRAS PTPN11
14 liver/biliary system MP:0005370 10.1 ASXL1 BRAF CBL JAK2 KRAS NF1
15 neoplasm MP:0002006 10.07 ASXL1 BRAF CSF2 FLT3 JAK2 KRAS
16 hearing/vestibular/ear MP:0005377 9.99 BRAF CBL KRAS NF1 PTPN11 RAF1
17 muscle MP:0005369 9.92 ARHGAP26 BRAF CBL KRAS NF1 PTPN11
18 pigmentation MP:0001186 9.63 BRAF CBL KRAS NF1 NRAS PTPN11
19 respiratory system MP:0005388 9.61 BRAF CBL CSF2 JAK2 KRAS NF1
20 skeleton MP:0005390 9.44 ASXL1 BRAF CBL CSF2 FLT3 JAK2

Drugs & Therapeutics for Juvenile Myelomonocytic Leukemia

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

(show top 50) (show all 253)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mercaptopurine Approved Phase 3 50-44-2 667490
2
Lorazepam Approved Phase 3 846-49-1 3958
3
Aldesleukin Approved Phase 3 85898-30-2, 110942-02-4
4
Acyclovir Approved Phase 3 59277-89-3 2022
5
Idarubicin Approved Phase 3 58957-92-9 42890
6
Daunorubicin Approved Phase 3 20830-81-3 30323
7
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
8
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
9
Thioguanine Approved Phase 3 154-42-7 2723601
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
11
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
12
Lenalidomide Approved Phase 3 191732-72-6 216326
13
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
14
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
15
Mycophenolic acid Approved Phase 3 24280-93-1 446541
16
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
17
leucovorin Approved Phase 3 58-05-9 6006 143
18
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
20 Pevonedistat Investigational Phase 3 905579-51-3
21
Lonafarnib Investigational Phase 3 193275-84-2 148195
22 Thymoglobulin Phase 3
23 Antilymphocyte Serum Phase 3
24 Analgesics, Non-Narcotic Phase 3
25 Analgesics Phase 3
26 Anti-HIV Agents Phase 3
27 Interleukin-2 Phase 3
28 Anti-Retroviral Agents Phase 3
29 valacyclovir Phase 3
30 Muromonab-CD3 Phase 3
31 Hydrocortisone 17-butyrate 21-propionate Phase 3
32 Hydrocortisone-17-butyrate Phase 3
33 Hydrocortisone hemisuccinate Phase 3
34
asparaginase Phase 3
35 N-Methylaspartate Phase 3
36 BB 1101 Phase 3
37
Homoharringtonine Phase 3 285033
38 Protein Kinase Inhibitors Phase 3
39 Angiogenesis Inhibitors Phase 3
40 ON 01910 Phase 3
41 Hematinics Phase 3
42 Epoetin alfa Phase 3 113427-24-0
43 Immunologic Factors Phase 3
44 Alkylating Agents Phase 3
45 Immunosuppressive Agents Phase 3
46 Dermatologic Agents Phase 3
47 Antirheumatic Agents Phase 3
48 Antitubercular Agents Phase 3
49 Folic Acid Antagonists Phase 3
50 Vitamin B Complex Phase 3

Interventional clinical trials:

(show top 50) (show all 311)
# 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 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 Unknown status NCT00450450 Phase 3
3 Prospective Study of the Diagnosis and Treatment of Myelodysplastic Syndromes (MDS) in Childhood Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
4 Myeloablative Hematopoietic Progenitor Cell Transplantation (HPCT) for Pediatric Malignancies Unknown status 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
5 Multi-Centre Prospective Randomized Study on the Use of Two Different Doses of Rabbit Anti-Thymocyte Globulin for GVHD Prevention in Paediatric Patients With Haematological Malignancies Given an Unrelated Donor Haematopoietic Stem Cell Transplantation Unknown status NCT00934557 Phase 3 ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius
6 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
7 A Phase III Multicenter Study of Cytomegalovirus Prophylaxis With Valacyclovir for the Prevention of Serious Fungal and Bacterial Infections Among Cytomegalovirus Seronegative Recipients of Cytomegalovirus Seropositive Sx Stem Cell Transplants Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
8 Phase III Trial of T Lymphocyte Depletion by Elutriation and CD34 Add-Back for Allogeneic Bone Marrow Transplantation Completed NCT00265837 Phase 3
9 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
10 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
11 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
12 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
13 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:
14 Treatment of Children With Down Syndrome (DS) and Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), and Transient Myeloproliferative Disorder (TMD): A Phase III Group-Wide Study Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
15 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
16 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
17 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) Recruiting NCT04266301 Phase 3 MBG453;Azacitidine;Placebo
18 The Clinical Efficacy of Azacytidine Combined With HAG Regimen in Elderly Patients With Myeloid Malignancy Recruiting NCT03873311 Phase 3 Azacytidine, HAG Regimen
19 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 Active, not recruiting NCT01928537 Phase 3 rigosertib sodium
20 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
21 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
22 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
23 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 Active, not recruiting NCT01241500 Phase 3 ON 01910.Na
24 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
25 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
26 A Randomized Study to Evaluate The Efficacy of Mycophenolate Mofetil Added to The Systemic Immunosuppressive Regimen First Used For Treatment of Chronic Graft-Versus-Host Disease Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
27 A Phase I/II Study of Lenalidomide in Patients With Chronic Myelomonocytic Leukemia Unknown status NCT01368757 Phase 1, Phase 2 Revlimid
28 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
29 Use of Decitabine in Myelodysplastic Syndrome (MDS) Following Azacitidine (AZA) Failure Unknown status NCT01133886 Phase 2 Decitabine
30 A Phase I/II, Multi-center, Dose-escalating Study of the Tolerability, Pharmacokinetics, and Clinical Activity of the Combined Administration of Oral Rigosertib With Azacitidine in Patients With Myelodysplastic Syndrome or Acute Myeloid Leukemia Unknown status NCT01926587 Phase 1, Phase 2 oral rigosertib;Azacitidine
31 A Phase II Proof-of-Concept Trial to Study Kinase Inhibition in Relapsed/Refractory Acute Leukemias: Using a Comprehensive In Vitro Kinase Inhibitor Panel to Select Individualized, Targeted Therapies Unknown status NCT01620216 Phase 2 Dasatinib;Nilotinib;Ponatinib Hydrochloride;Sorafenib Tosylate;Sunitinib Malate
32 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®
33 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
34 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
35 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
36 A Phase II Study of the Efficacy, Safety and Determinants of Response to 5-Azacitidine (Vidaza®) in Patients With Chronic Myelomonocytic Leukemia (CMML) Completed NCT01350947 Phase 2 5-Azacitidine
37 A Phase 2 Study of Azacitidine in Chronic Myelomonocytic Leukemia (CMML) Completed NCT01235117 Phase 2 azacitidine
38 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
39 Conditioning For Hematopoietic Cell Transplantation With Fludarabine Plus Targeted IV Busulfan and GVHD Prophylaxis With Thymoglobulin, Tacrolimus and Methotrexate in Patients With Myeloid Malignancies Completed NCT00346359 Phase 2 busulfan;fludarabine phosphate;methotrexate;tacrolimus
40 Feasibility of Granulocyte-Colony Stimulating Factor (G-CSF) Stimulated Bone Marrow From Pediatric Donors as a Stem Cell Source for Allogeneic Bone Marrow Transplant Completed NCT00118326 Phase 1, Phase 2
41 A Phase II Study of the Combination of Tacrolimus and Mycophenolate Mofetil for the Prevention of Acute Graft-Versus-Host Disease Completed NCT00096096 Phase 2 mycophenolate mofetil;tacrolimus
42 The Effect of Cyproheptadine Hydrochloride (Periactin) and Megestrol Acetate (Megace) on Weight in Children With Cancer/Treatment Related Cachexia Completed NCT00066248 Phase 2 cyproheptadine hydrochloride;megestrol acetate
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 A Phase II Study of Sirolimus, Tacrolimus and Thymoglobulin, as Graft-versus-Host Prophylaxis in Patients Undergoing Unrelated Donor Hematopoietic Cell Transplantation Completed NCT00589563 Phase 2 cyclophosphamide;etoposide;fludarabine phosphate;melphalan;methotrexate;sirolimus;tacrolimus
45 A Phase II Study of Decitabine in Patients With Chronic Myelomonocytic Leukemia Completed NCT01098084 Phase 2 Decitabine
46 A Phase II Multicenter Open-label Study to Assess the Efficacy of Decitabine in the Treatment of Chronic Myelomonocytic Leukemia Completed NCT01251627 Phase 2 Decitabine
47 A Phase II Study of Gleevec (Imatinib Mesylate) In Patients With BCR-Negative Myeloproliferative Disorders Including Patients With Idiopathic Myelofibrosis With Myeloid Dysplasia or Chronic Myelomonocytic Leukemia Completed NCT00136409 Phase 2 Imatinib mesylate
48 A Phase 1/2 Study of SB1518 for the Treatment of Advanced Myeloid Malignancies Completed NCT00719836 Phase 1, Phase 2 SB1518
49 An Open-label, Randomized, Phase 2, Parallel, Dose-Ranging, Multicenter Study of Sotatercept for the Treatment of Patients With Anemia and Low or Intermediate-1 Risk Myelodysplastic Syndromes or Non-proliferative Chronic Myelomonocytic Leukemia (CMML) Completed NCT01736683 Phase 2 Sotatercept
50 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate

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 29 ARHGAP26 CBL NF1 PTPN11

Anatomical Context for Juvenile Myelomonocytic Leukemia

MalaCards organs/tissues related to Juvenile Myelomonocytic Leukemia:

40
Myeloid, Bone, Bone Marrow, T Cells, Monocytes, Lymph Node, Nk Cells

Publications for Juvenile Myelomonocytic Leukemia

Articles related to Juvenile Myelomonocytic Leukemia:

(show top 50) (show all 570)
# Title Authors PMID Year
1
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 61 56 6 54
17332249 2007
2
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 54 56 6 61
12717436 2003
3
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. 61 56 6
25939664 2015
4
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 6 56
19775298 2009
5
Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. 6 54 61
9639526 1998
6
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 56 61
23832011 2013
7
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. 6 61
21063026 2011
8
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 61 6
20694012 2010
9
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. 56 61
20008299 2010
10
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 56 61
19571318 2009
11
Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations. 56 61
18182584 2008
12
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 56 61
15723289 2005
13
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. 6 61
10908648 2000
14
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). 56 61
10086728 1999
15
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 6
25808193 2015
16
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
17
Oncogenic Nras has bimodal effects on stem cells that sustainably increase competitiveness. 6
24284627 2013
18
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 6
22683711 2012
19
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 6
22499344 2012
20
A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia. 56
21562564 2011
21
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. 6
21079152 2011
22
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. 6
20805368 2010
23
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. 6
20949522 2010
24
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 56
20543203 2010
25
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. 56
19420352 2009
26
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. 56
19388938 2009
27
Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. 56
19372255 2009
28
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 6
17517660 2007
29
Germline KRAS mutations cause Noonan syndrome. 56
16474405 2006
30
Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. 56
11588050 2001
31
Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). 56
9616134 1998
32
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. 6
9180088 1997
33
Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS) 56
9160658 1997
34
Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. 6
7773929 1995
35
Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma. 6
8439212 1993
36
N-ras gene point mutations in childhood acute lymphocytic leukemia correlate with a poor prognosis. 6
2407301 1990
37
The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231. 6
3627975 1987
38
Amino-acid substitutions at codon 13 of the N-ras oncogene in human acute myeloid leukaemia. 6
2989702 1985
39
Genetic analysis of dasatinib-treated chronic myeloid leukemia rapidly developing into acute myeloid leukemia with monosomy 7 in Philadelphia-negative cells. 61 54
20471511 2010
40
Juvenile myelomonocytic leukemia with PTPN11 mutation in a 23-month-old girl. 61 54
20432758 2010
41
Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1. 54 61
20015894 2010
42
The tyrosine phosphatase Shp2 in development and cancer. 54 61
20399956 2010
43
Protein tyrosine phosphatase SHP-2: a proto-oncogene product that promotes Ras activation. 61 54
19622105 2009
44
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 54 61
19509418 2009
45
Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis. 54 61
19179468 2009
46
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 61 54
19047918 2009
47
Oncogenic Kras-induced leukemogeneis: hematopoietic stem cells as the initial target and lineage-specific progenitors as the potential targets for final leukemic transformation. 61 54
19066392 2009
48
Juvenile myelomonocytic leukemia with less aggressive clinical course and KRAS mutation. 61 54
18561174 2008
49
2-Thiazolylimino/heteroarylimino-5-arylidene-4-thiazolidinones as new agents with SHP-2 inhibitory action. 54 61
18702480 2008
50
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. 61 54
18799937 2008

Variations for Juvenile Myelomonocytic Leukemia

ClinVar genetic disease variations for Juvenile Myelomonocytic Leukemia:

6 (show top 50) (show all 94) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter)SNV Pathogenic 428948 rs1131691073 17:29667571-29667571 17:31340553-31340553
2 ASXL1 NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)deletion Pathogenic 812900 20:31022403-31022425 20:32434600-32434622
3 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)SNV Pathogenic 336 rs137854550 17:29585518-29585518 17:31258500-31258500
4 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter)SNV Pathogenic 343 rs137854552 17:29661945-29661945 17:31334927-31334927
5 NF1 NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter)SNV Pathogenic 350 rs137854555 17:29588828-29588828 17:31261810-31261810
6 NF1 NF1, IVS34, G-A, +18SNV Pathogenic 351
7 NF1 NM_000267.3(NF1):c.1642-8A>GSNV Pathogenic 352 rs267606602 17:29548860-29548860 17:31221842-31221842
8 ARHGAP26 NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser)SNV Pathogenic 5052 rs121918546 5:142421420-142421420 5:143041855-143041855
9 ARHGAP26 ARHGAP26, 52-BP INSinsertion Pathogenic 5053
10 ARHGAP26 ARHGAP26, 74-BP INSinsertion Pathogenic 5054
11 KRAS NM_033360.4(KRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 12580 rs112445441 12:25398281-25398281 12:25245347-25245347
12 KRAS NM_033360.4(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
13 KRAS NM_033360.4(KRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 12583 rs121913529 12:25398284-25398284 12:25245350-25245350
14 KRAS NM_033360.4(KRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12584 rs121913530 12:25398285-25398285 12:25245351-25245351
15 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)SNV Pathogenic 13324 rs121918453 12:112888198-112888198 12:112450394-112450394
16 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)SNV Pathogenic 13329 rs121918460 12:112888168-112888168 12:112450364-112450364
17 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)SNV Pathogenic 13331 rs121918457 12:112926270-112926270 12:112488466-112488466
18 PTPN11 NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)SNV Pathogenic 13332 rs121918458 12:112926884-112926884 12:112489080-112489080
19 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)SNV Pathogenic 13333 rs121918459 12:112888172-112888172 12:112450368-112450368
20 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)SNV Pathogenic 13334 rs121918462 12:112888202-112888202 12:112450398-112450398
21 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys)SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
22 PTPN11 NM_002834.4(PTPN11):c.227A>T (p.Glu76Val)SNV Pathogenic 13337 rs121918465 12:112888211-112888211 12:112450407-112450407
23 PTPN11 NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)SNV Pathogenic 13338 rs121918465 12:112888211-112888211 12:112450407-112450407
24 PTPN11 NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala)SNV Pathogenic 13339 rs121918465 12:112888211-112888211 12:112450407-112450407
25 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)SNV Pathogenic 13340 rs121918466 12:112888220-112888220 12:112450416-112450416
26 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 13901 rs121434596 1:115258744-115258744 1:114716123-114716123
27 CBL NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys)SNV Pathogenic 29824 rs387906666 11:119148892-119148892 11:119278182-119278182
28 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 39648 rs121913237 1:115258747-115258747 1:114716126-114716126
29 NF1 NM_000267.3(NF1):c.574C>T (p.Arg192Ter)SNV Pathogenic 40093 rs397514641 17:29497003-29497003 17:31169985-31169985
30 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)SNV Pathogenic 40487 rs397507505 12:112888156-112888156 12:112450352-112450352
31 NF1 NM_000267.3(NF1):c.2266C>T (p.Gln756Ter)SNV Pathogenic 576444 rs1567847905 17:29554250-29554250 17:31227232-31227232
32 NF1 NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter)SNV Pathogenic 570950 rs1567862991 17:29587499-29587499 17:31260481-31260481
33 NF1 NM_000267.3(NF1):c.3870+1G>TSNV Pathogenic 565498 rs1131691075 17:29562791-29562791 17:31235773-31235773
34 NF1 NM_000267.3(NF1):c.2970_2971del (p.Met991fs)deletion Pathogenic 663010 17:29556972-29556973 17:31229954-31229955
35 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)SNV Pathogenic 13326 rs28933386 12:112915523-112915523 12:112477719-112477719
36 PTPN11 NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)SNV Pathogenic 13330 rs121918461 12:112888166-112888166 12:112450362-112450362
37 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)SNV Pathogenic 13327 rs121918455 12:112915524-112915524 12:112477720-112477720
38 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)SNV Pathogenic 40502 rs397507514 12:112888212-112888212 12:112450408-112450408
39 PTPN11 NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)SNV Pathogenic 40512 rs397507520 12:112891083-112891083 12:112453279-112453279
40 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279
41 PTPN11 NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)SNV Pathogenic 40556 rs121918458 12:112926884-112926884 12:112489080-112489080
42 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)SNV Pathogenic 40558 rs397507545 12:112926887-112926887 12:112489083-112489083
43 PTPN11 NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)SNV Pathogenic 40559 rs397507545 12:112926887-112926887 12:112489083-112489083
44 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)SNV Pathogenic 40562 rs397507547 12:112926890-112926890 12:112489086-112489086
45 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)SNV Pathogenic 68341 rs137854556 17:29562747-29562747 17:31235729-31235729
46 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 177778 rs121913250 1:115258748-115258748 1:114716127-114716127
47 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln)SNV Pathogenic 185354 rs786202112 17:29654857-29654857 17:31327839-31327839
48 NF1 NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter)SNV Pathogenic 187652 rs786203896 17:29657486-29657486 17:31330468-31330468
49 NF1 NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter)SNV Pathogenic 185082 rs772295894 17:29665757-29665757 17:31338739-31338739
50 PTPN11 NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr)SNV Pathogenic 228392 rs397507510 12:112888165-112888165 12:112450361-112450361

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 153)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.29 SOS1 RIT1 RAF1 PTPN11 NRAS NF1
2
Show member pathways
14.14 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
3
Show member pathways
13.95 SOS1 RRAS RAF1 NRAS NF1 KRAS
4
Show member pathways
13.83 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
5
Show member pathways
13.79 SOS1 RRAS RAF1 NRAS KRAS JAK2
6
Show member pathways
13.67 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
7
Show member pathways
13.63 SOS1 RRAS RAF1 PTPN11 NRAS NF1
8
Show member pathways
13.53 SOS1 RRAS RAF1 NRAS KRAS JAK2
9
Show member pathways
13.53 SOS1 RRAS RAF1 NRAS KRAS JAK2
10
Show member pathways
13.43 SOS1 RAF1 PTPN11 NRAS KRAS JAK2
11
Show member pathways
13.43 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
12
Show member pathways
13.4 SOS1 RRAS RAF1 NRAS KRAS FLT3
13
Show member pathways
13.34 SOS1 RRAS RAF1 NRAS KRAS JAK2
14
Show member pathways
13.18 SOS1 RRAS RAF1 NRAS KRAS BRAF
15
Show member pathways
13.17 SOS1 RAF1 NRAS KRAS JAK2 BRAF
16
Show member pathways
13.16 SOS1 RRAS RAF1 NRAS KRAS JAK2
17
Show member pathways
13.15 SOS1 RRAS RAF1 NRAS KRAS BRAF
18
Show member pathways
13.13 SOS1 RRAS RAF1 NRAS KRAS CBL
19
Show member pathways
13.11 SOS1 RAF1 NRAS KRAS JAK2 FLT3
20
Show member pathways
13.06 SOS1 RAF1 NRAS KRAS JAK2 CSF2
21
Show member pathways
13.05 SOS1 RRAS RAF1 NRAS KRAS JAK2
22
Show member pathways
13.04 SOS1 RAF1 PTPN11 NRAS KRAS JAK2
23
Show member pathways
13.02 SOS1 RRAS RAF1 NRAS KRAS BRAF
24
Show member pathways
13.02 SOS1 RRAS RAF1 NRAS KRAS JAK2
25
Show member pathways
13.01 SOS1 RRAS RAF1 NRAS KRAS JAK2
26
Show member pathways
12.98 SOS1 RAF1 NRAS KRAS JAK2 CBL
27
Show member pathways
12.97 SOS1 RAF1 NRAS KRAS BRAF
28
Show member pathways
12.94 SOS1 RRAS RAF1 NRAS KRAS JAK2
29 12.94 SOS1 RUNX1 RAF1 NRAS KRAS JAK2
30
Show member pathways
12.94 SOS1 RUNX1 RAF1 PTPN11 NRAS KRAS
31
Show member pathways
12.93 SOS1 RAF1 PTPN11 KRAS JAK2 CBL
32 12.88 SOS1 RRAS RAF1 NRAS NF1 KRAS
33
Show member pathways
12.87 SOS1 RAF1 NRAS KRAS BRAF
34
Show member pathways
12.87 SOS1 RAF1 PTPN11 NRAS KRAS CBL
35
Show member pathways
12.84 SOS1 PTPN11 NRAS KRAS CBL
36
Show member pathways
12.83 SOS1 RAF1 NRAS NF1 KRAS CBL
37
Show member pathways
12.81 SOS1 RRAS RAF1 NRAS KRAS BRAF
38
Show member pathways
12.81 SOS1 RRAS RAF1 PTPN11 NRAS NF1
39
Show member pathways
12.79 SOS1 RAF1 NRAS KRAS JAK2
40
Show member pathways
12.79 RRAS RAF1 NRAS KRAS BRAF
41 12.78 SOS1 RRAS RAF1 NRAS KRAS BRAF
42
Show member pathways
12.73 SOS1 RAF1 PTPN11 NRAS KRAS CSF2
43
Show member pathways
12.71 SOS1 PTPN11 NRAS KRAS JAK2
44
Show member pathways
12.71 SOS1 PTPN11 NRAS KRAS CBL BRAF
45
Show member pathways
12.7 SOS1 RAF1 PTPN11 JAK2 CBL
46
Show member pathways
12.67 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
47
Show member pathways
12.66 SOS1 RAF1 NRAS KRAS JAK2 CBL
48
Show member pathways
12.64 SOS1 RAF1 NRAS KRAS BRAF
49
Show member pathways
12.63 SOS1 PTPN11 NRAS KRAS CBL
50
Show member pathways
12.61 SOS1 RAF1 PTPN11 NRAS KRAS CBL

GO Terms for Juvenile Myelomonocytic Leukemia

Cellular components related to Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.02 RRAS KRAS JAK2 CBL ARHGAP26

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.06 SOS1 RRAS RIT1 RAF1 NRAS NF1
2 actin cytoskeleton organization GO:0030036 9.84 SPECC1 NF1 KRAS ARHGAP26
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.75 JAK2 FLT3 CBL
4 hemopoiesis GO:0030097 9.73 RUNX1 FLT3 ASXL1
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.72 JAK2 FLT3 CSF2
6 cytokine-mediated signaling pathway GO:0019221 9.7 SOS1 PTPN11 KRAS JAK2 FLT3 CSF2
7 visual learning GO:0008542 9.69 NF1 KRAS BRAF
8 activation of MAPKK activity GO:0000186 9.65 RAF1 JAK2 BRAF
9 thymus development GO:0048538 9.63 RAF1 BRAF ASXL1
10 regulation of synaptic transmission, GABAergic GO:0032228 9.59 NF1 KRAS
11 dendritic cell differentiation GO:0097028 9.58 FLT3 CSF2
12 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 SOS1 RAF1 PTPN11
13 regulation of myeloid cell differentiation GO:0045637 9.57 RUNX1 CSF2
14 epidermal growth factor receptor signaling pathway GO:0007173 9.56 SOS1 PTPN11 CBL BRAF
15 interleukin-6-mediated signaling pathway GO:0070102 9.54 PTPN11 JAK2 CBL
16 myeloid progenitor cell differentiation GO:0002318 9.52 FLT3 BRAF
17 leukocyte differentiation GO:0002521 9.49 RRAS FLT3
18 forebrain astrocyte development GO:0021897 9.43 NF1 KRAS
19 Ras protein signal transduction GO:0007265 9.43 SOS1 RRAS RIT1 NRAS NF1 KRAS
20 MAPK cascade GO:0000165 9.28 SOS1 RAF1 NRAS NF1 KRAS JAK2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 SPECC1 SOS1 SETBP1 SAMD9L RUNX1 RRAS
2 nucleotide binding GO:0000166 9.92 RRAS RIT1 RAF1 NRAS KRAS JAK2
3 protein-containing complex binding GO:0044877 9.43 RRAS RAF1 NRAS KRAS FLT3 BRAF
4 mitogen-activated protein kinase kinase binding GO:0031434 9.4 RAF1 BRAF
5 insulin receptor substrate binding GO:0043560 9.37 PTPN11 JAK2
6 peptide hormone receptor binding GO:0051428 9.26 PTPN11 JAK2
7 GDP binding GO:0019003 8.92 RRAS RIT1 NRAS KRAS

Sources for Juvenile Myelomonocytic Leukemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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