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JMML
MCID: JVN004
MIFTS: 67

Juvenile Myelomonocytic Leukemia (JMML)

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

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MalaCards integrated aliases for Juvenile Myelomonocytic Leukemia:

Name: Juvenile Myelomonocytic Leukemia 57 12 20 58 29 54 6 15 37 17 71
Leukemia, Juvenile Myelomonocytic 57 20 73 13 39
Jmml 57 20 58 73
Leukemia, Juvenile Myelomonocytic, Somatic 57
Juvenile Chronic Myelomonocytic Leukemia 58
Juvenile Chronic Myelogenous Leukemia 73
Leukemia, Myelomonocytic, Juvenile 44

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050458
OMIM® 57 607785
MeSH 44 D054429
NCIt 50 C9233
SNOMED-CT 67 445227008
ICD10 32 C93.3
MESH via Orphanet 45 D054429
ICD10 via Orphanet 33 C93.3
UMLS via Orphanet 72 C0349639
Orphanet 58 ORPHA86834
UMLS 71 C0349639
Sources

Summaries for Juvenile Myelomonocytic Leukemia

About this section
OMIM® : 57 Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). (607785) (Updated 05-Mar-2021)

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 TGF-Beta Pathway. The drugs Homoharringtonine and Mercaptopurine 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...

Sources

Related Diseases for Juvenile Myelomonocytic Leukemia

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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 219)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 33.5 PTPN11 CBL
2 noonan syndrome 3 32.7 SOS1 RAF1 PTPN11 KRAS
3 myelodysplastic/myeloproliferative neoplasm 32.5 SETBP1 PTPN11 NRAS NF1 FLT3 ETV6
4 noonan syndrome 1 32.4 SPECC1 SOS1 RRAS RIT1 RAF1 PTPN11
5 neurofibromatosis 31.9 SOS1 PTPN11 NF1 KRAS
6 leukemia 31.8 RUNX1 RAF1 PTPN11 NRAS NF1 KRAS
7 pseudo-turner syndrome 31.7 SOS1 RIT1 RAF1 PTPN11 NRAS KRAS
8 myeloproliferative neoplasm 31.7 RUNX1 PTPN11 NRAS NF1 FLT3 ETV6
9 myelodysplastic syndrome 31.3 SETBP1 SAMD9L RUNX1 PTPN11 NRAS NF1
10 neurofibromatosis, type i 31.2 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
11 leukemia, acute myeloid 31.2 SETBP1 SAMD9L RUNX1 PTPN11 NRAS NF1
12 chronic myelomonocytic leukemia 31.1 SETBP1 RUNX1 PTPN11 NRAS NF1 KRAS
13 thrombocytopenia 31.1 RUNX1 PTPN11 KRAS FLT3 ETV6 CSF2
14 myeloid leukemia 31.1 RUNX1 RAF1 PTPN11 NRAS KRAS FLT3
15 costello syndrome 31.0 SOS1 PTPN11 KRAS BRAF
16 leukemia, acute lymphoblastic 30.9 RUNX1 PTPN11 KRAS FLT3 ETV6 CSF2
17 histiocytosis 30.9 NRAS CSF2 BRAF
18 childhood leukemia 30.9 RUNX1 PTPN11 ETV6
19 hypertrophic cardiomyopathy 30.9 SOS1 RIT1 RAF1 PTPN11 KRAS BRAF
20 leukemia, chronic myeloid 30.8 SETBP1 RUNX1 RAF1 PTPN11 NRAS NF1
21 b-lymphoblastic leukemia/lymphoma 30.8 PTPN11 FLT3 ETV6 CBL
22 acute leukemia 30.8 SETBP1 RUNX1 KRAS FLT3 ETV6 CSF2
23 legius syndrome 30.8 PTPN11 NF1 ASXL1
24 neutropenia 30.8 PTPN11 KRAS FLT3 CSF2
25 nevus, epidermal 30.7 NRAS NF1 KRAS
26 sarcoma 30.7 RAF1 NRAS KRAS CSF2 BRAF
27 systemic mastocytosis 30.6 PTPN11 NRAS ASXL1
28 monocytic leukemia 30.6 RUNX1 FLT3 CSF2
29 noonan syndrome with multiple lentigines 30.5 SOS1 RRAS RAF1 PTPN11 NF1 KRAS
30 childhood acute lymphocytic leukemia 30.4 RUNX1 PTPN11 KRAS FLT3 ETV6
31 cardiofaciocutaneous syndrome 1 30.4 SOS1 RRAS RIT1 RAF1 PTPN11 NRAS
32 rasopathy 30.3 SPECC1 SOS1 RRAS RIT1 RAF1 PTPN11
33 noonan syndrome 6 11.2
34 noonan syndrome 8 11.2
35 noonan syndrome 2 11.2
36 noonan syndrome 4 11.2
37 noonan syndrome 5 11.2
38 noonan syndrome 7 11.2
39 noonan syndrome 9 11.2
40 noonan syndrome 10 11.2
41 noonan syndrome 11 11.2
42 noonan syndrome 12 11.2
43 splenomegaly 10.6
44 keratosis pilaris atrophicans faciei 10.6 SOS1 PTPN11 NF1
45 lentigines 10.6 RAF1 PTPN11 BRAF
46 urachal adenocarcinoma 10.6 NF1 KRAS BRAF
47 graft-versus-host disease 10.6
48 acneiform dermatitis 10.6 NRAS KRAS BRAF
49 skin granular cell tumor 10.6 SOS1 PTPN11 NF1
50 noonan syndrome-like disorder with loose anagen hair 10.6 SOS1 PTPN11 KRAS

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



Diseases related to Juvenile Myelomonocytic Leukemia
Sources

Symptoms & Phenotypes for Juvenile Myelomonocytic Leukemia

About this section

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®:

57 (Updated 05-Mar-2021)
Hematology:
juvenile myelomonocytic leukemia

Clinical features from OMIM®:

607785 (Updated 05-Mar-2021)

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 45)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.33 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.33 BRAF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.33 CBL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.33 PTPN11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.33 SOS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.33 PTPN11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.33 CBL
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.33 PTPN11
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.33 CBL
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.33 CBL
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.33 PTPN11 RAF1 SOS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.33 RAF1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.33 BRAF
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.33 BRAF
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.33 PTPN11
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.33 BRAF
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.33 SOS1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.33 RAF1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.33 BRAF
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.33 BRAF
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.33 BRAF
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.33 PTPN11
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.33 CBL
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.33 CBL
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.33 PTPN11
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.33 SOS1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.33 BRAF
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 10.33 NF1
29 Decreased viability GR00055-A-1 10 KRAS
30 Decreased viability GR00055-A-2 10 KRAS
31 Decreased viability GR00055-A-3 10 KRAS
32 Decreased viability GR00106-A-0 10 KRAS
33 Decreased viability GR00173-A 10 FLT3
34 Decreased viability GR00221-A-1 10 FLT3 KRAS NF1 NRAS RAF1
35 Decreased viability GR00221-A-2 10 KRAS NF1 RAF1
36 Decreased viability GR00221-A-3 10 NRAS
37 Decreased viability GR00221-A-4 10 FLT3 NF1
38 Decreased viability GR00249-S 10 NF1
39 Decreased viability GR00301-A 10 KRAS RAF1
40 Decreased viability GR00381-A-1 10 KRAS
41 Decreased viability GR00386-A-1 10 NF1
42 Decreased viability GR00402-S-2 10 RAF1
43 Decreased cell migration GR00055-A-1 9.8 SOS1 ARHGAP26
44 Decreased cell migration GR00055-A-3 9.8 BRAF CBL
45 Reduced mammosphere formation GR00396-S 9.17 BRAF ETV6 KRAS NRAS PTPN11 RUNX1

MGI Mouse Phenotypes related to Juvenile Myelomonocytic Leukemia:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.45 ARHGAP26 ASXL1 BRAF CBL CSF2 ETV6
2 cardiovascular system MP:0005385 10.44 BRAF CBL CSF2 ETV6 KRAS NF1
3 homeostasis/metabolism MP:0005376 10.44 ASXL1 BRAF CBL CSF2 ETV6 FLT3
4 cellular MP:0005384 10.43 ASXL1 BRAF CBL CSF2 ETV6 FLT3
5 immune system MP:0005387 10.42 ARHGAP26 ASXL1 BRAF CBL CSF2 ETV6
6 behavior/neurological MP:0005386 10.41 ASXL1 BRAF CBL CSF2 KRAS NF1
7 growth/size/body region MP:0005378 10.38 ASXL1 BRAF CBL CSF2 ETV6 FLT3
8 endocrine/exocrine gland MP:0005379 10.36 ASXL1 BRAF CBL CSF2 ETV6 FLT3
9 mortality/aging MP:0010768 10.34 ASXL1 BRAF CBL CSF2 ETV6 FLT3
10 craniofacial MP:0005382 10.32 ASXL1 BRAF CBL CSF2 KRAS NF1
11 embryo MP:0005380 10.26 BRAF CSF2 ETV6 KRAS NF1 NRAS
12 integument MP:0010771 10.26 BRAF CBL CSF2 ETV6 KRAS NF1
13 digestive/alimentary MP:0005381 10.22 ASXL1 BRAF ETV6 KRAS NF1 NRAS
14 neoplasm MP:0002006 10.18 ASXL1 BRAF CSF2 ETV6 FLT3 KRAS
15 liver/biliary system MP:0005370 10.16 ASXL1 BRAF CBL ETV6 KRAS NF1
16 muscle MP:0005369 10.01 ARHGAP26 BRAF CBL KRAS NF1 PTPN11
17 no phenotypic analysis MP:0003012 9.87 ETV6 FLT3 KRAS NRAS PTPN11 RAF1
18 respiratory system MP:0005388 9.76 BRAF CBL CSF2 KRAS NF1 PTPN11
19 pigmentation MP:0001186 9.73 BRAF CBL KRAS NF1 NRAS PTPN11
20 skeleton MP:0005390 9.73 ASXL1 BRAF CBL CSF2 FLT3 KRAS
21 vision/eye MP:0005391 9.32 ASXL1 BRAF CBL KRAS NF1 NRAS
Sources

Drugs & Therapeutics for Juvenile Myelomonocytic Leukemia

About this section

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

(show top 50) (show all 312)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Homoharringtonine Phase 4 285033
2
Mercaptopurine Approved Phase 3 50-44-2 667490
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Acyclovir Approved Phase 3 59277-89-3 2022
5
Thioguanine Approved Phase 3 154-42-7 2723601
6
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
7
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
8
Idarubicin Approved Phase 3 58957-92-9 42890
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
10
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
11
Lenalidomide Approved Phase 3 191732-72-6 216326
12
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
13
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
14
Mycophenolic acid Approved Phase 3 24280-93-1 446541
15
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
16
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
17
Lonafarnib Approved, Investigational Phase 3 193275-84-2 148195
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 glucocorticoids Phase 3
22 Antiemetics Phase 3
23 Etoposide phosphate Phase 3
24 Antineoplastic Agents, Hormonal Phase 3
25 Calcium, Dietary Phase 3
26 valacyclovir Phase 3
27
asparaginase Phase 3
28 Hydrocortisone hemisuccinate Phase 3
29 Hydrocortisone-17-butyrate Phase 3
30 Hydrocortisone 17-butyrate 21-propionate Phase 3
31 Muromonab-CD3 Phase 3
32 ON 01910 Phase 3
33 BB 1101 Phase 3
34 N-Methylaspartate Phase 3
35 Immunologic Factors Phase 3
36 Angiogenesis Inhibitors Phase 3
37 Hematinics Phase 3
38 Epoetin alfa Phase 3 113427-24-0
39 Folic Acid Antagonists Phase 3
40 Vitamin B Complex Phase 3
41 Cyclosporins Phase 3
42 Antirheumatic Agents Phase 3
43 Vitamin B9 Phase 3
44 Dermatologic Agents Phase 3
45 Folate Phase 3
46 Calcineurin Inhibitors Phase 3
47 Antibiotics, Antitubercular Phase 3
48 Antitubercular Agents Phase 3
49 Alkylating Agents Phase 3
50
Calcium Nutraceutical Phase 3 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 315)
# 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 Prospective Study of the Diagnosis and Treatment of Myelodysplastic Syndromes (MDS) in Childhood Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
4 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
5 Phase III Trial of T Lymphocyte Depletion by Elutriation and CD34 Add-Back for Allogeneic Bone Marrow Transplantation Completed NCT00265837 Phase 3
6 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
7 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
8 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
9 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
10 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
11 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
12 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
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 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
15 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
16 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
17 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
18 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) Recruiting NCT03306264 Phase 3 ASTX727;Dacogen
19 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
20 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
21 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
22 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
23 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
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 Phase II Trial of Allogeneic Peripheral Blood Stem Cell Transplantation From Matched Unrelated Donors in Patients With Advanced Hematologic Malignancies and Hematological Disorders Unknown status NCT00544115 Phase 2 busulfan;cyclophosphamide;cyclosporine;etoposide;fludarabine phosphate;melphalan;methotrexate;mycophenolate mofetil;sirolimus;tacrolimus
26 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
27 Use of Decitabine in Myelodysplastic Syndrome (MDS) Following Azacitidine (AZA) Failure Unknown status NCT01133886 Phase 2 Decitabine
28 A Phase I/II Study of Lenalidomide in Patients With Chronic Myelomonocytic Leukemia Unknown status NCT01368757 Phase 1, Phase 2 Revlimid
29 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
30 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®
31 A Phase II Study to Evaluate Low-Dose Alemtuzumab as a Glucocorticoid-Sparing Agent for Initial Systemic Treatment of Acute Graft-Versus-Host Disease Completed NCT00410657 Phase 2 methylprednisolone;prednisone
32 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
33 Transplantation of Unrelated Umbilical Cord Blood for Patients With Hematological Diseases With Cyclophosphamide/Fludarabine/Total Body Irradiation Myeloablative Preparative Regimen Completed NCT00309842 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil
34 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
35 A Phase I/II Study of Sirolimus in Addition to Tacrolimus and Methotrexate for the Prevention of Acute-Graft-Versus-Host Disease in Patients Undergoing Hematopoietic Stem Cell Transplantation From Unrelated Donors Completed NCT00089037 Phase 1, Phase 2 methotrexate;sirolimus;tacrolimus
36 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
37 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
38 A Phase II Study to Evaluate Efficacy and Tolerability of Methotrexate in Combination With Glucocorticoids for the Treatment of Newly Diagnosed Acute Graft-Versus-Host Disease After Nonmyeloablative Hematopoietic Cell Transplantation Completed NCT00357084 Phase 2 methotrexate;methylprednisolone;prednisone
39 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
40 A Phase II Trial of IV Busulfan (Busulfex) and Melphalan as a Preparatory Regimen Prior to Allogeneic Bone Marrow Transplantation for the Treatment of Advanced and High Risk Hematologic Malignancies Completed NCT00014469 Phase 2 busulfan;melphalan;methotrexate;tacrolimus
41 Hematopoietic Stem Cell Transplantation Using Bone Marrow Or Peripheral Blood Stem Cells From Matched, Unrelated, Volunteer Donors Completed NCT00054327 Phase 2 busulfan;cyclophosphamide;cytarabine;Etoposide
42 Purine-Analog-Containing Non-Myeloablative Allogeneic Stem Cell Transplantation for Treatment of Hematologic Malignancies and Severe Aplastic Anemia Completed NCT00006379 Phase 2 cyclophosphamide;fludarabine phosphate
43 A Multicenter Study of Unrelated Umbilical Cord Blood as an Alternate Source of Stem Cells for Transplantation Completed NCT00003913 Phase 2 busulfan;cyclophosphamide;methylprednisolone
44 A Phase II Trial of T-Cell Depleted Marrow Grafts Combined With Infusions of G-CSF Stimulated, CD34 Ceprate Stem Cell Column Selected, E-Rosette Depleted Peripheral Blood Progenitor Cells Derived From HLA Haplotype Matched Related Donors for Patients With Leukemia Lacking an HLA-Matched Related or Unrelated Donor Completed NCT00002718 Phase 2 cyclophosphamide;cytarabine;methylprednisolone;thiotepa
45 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
46 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
47 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
48 A Phase II Study to Evaluate the Efficacy of Posttransplant Cyclophosphamide for Prevention of Chronic Graft-versus-Host Disease After Allogeneic Peripheral Blood Stem Cell Transplantation Completed NCT01427881 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;busulfan
49 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;Rituxanâ„¢;Alemtuzumab;Cyclophosphamide;Anti-thymocyte globulin (Rabbit);G-CSF;Muromonab
50 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

Search NIH Clinical Center for Juvenile Myelomonocytic Leukemia

Cell-based therapeutics:


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

Cochrane evidence based reviews: leukemia, myelomonocytic, juvenile

Sources

Genetic Tests for Juvenile Myelomonocytic Leukemia

About this section

Genetic tests related to Juvenile Myelomonocytic Leukemia:

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

Anatomical Context for Juvenile Myelomonocytic Leukemia

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MalaCards organs/tissues related to Juvenile Myelomonocytic Leukemia:

40
Myeloid, Bone, Bone Marrow, Monocytes, T Cells, Liver, Nk Cells
Sources

Publications for Juvenile Myelomonocytic Leukemia

About this section

Articles related to Juvenile Myelomonocytic Leukemia:

(show top 50) (show all 603)
# Title Authors PMID Year
1
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 54 6 57 61
17332249 2007
2
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 57 6 54 61
12717436 2003
3
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. 61 6 57
25939664 2015
4
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 6 57
19775298 2009
5
Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. 54 61 6
9639526 1998
6
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 61 57
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. 57 61
20008299 2010
10
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 57 61
19571318 2009
11
Mutation analysis of SIPA1 in patients with juvenile myelomonocytic leukemia. 57 61
18492118 2008
12
Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations. 61 57
18182584 2008
13
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 57 61
15723289 2005
14
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. 61 6
10908648 2000
15
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). 57 61
10086728 1999
16
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 6
25808193 2015
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. 57
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. 57
20543203 2010
25
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. 57
19420352 2009
26
Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. 57
19372255 2009
27
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. 57
19388938 2009
28
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 6
17517660 2007
29
Germline KRAS mutations cause Noonan syndrome. 57
16474405 2006
30
Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. 57
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). 57
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) 57
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. 54 61
20471511 2010
40
Juvenile myelomonocytic leukemia with PTPN11 mutation in a 23-month-old girl. 54 61
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. 54 61
19622105 2009
44
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 61 54
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. 54 61
19066392 2009
48
Juvenile myelomonocytic leukemia with less aggressive clinical course and KRAS mutation. 54 61
18561174 2008
49
2-Thiazolylimino/heteroarylimino-5-arylidene-4-thiazolidinones as new agents with SHP-2 inhibitory action. 61 54
18702480 2008
50
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. 54 61
18799937 2008
Sources

Variations for Juvenile Myelomonocytic Leukemia

About this section

ClinVar genetic disease variations for Juvenile Myelomonocytic Leukemia:

6 (show top 50) (show all 99)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) SNV Pathogenic 350 rs137854555 17:29588828-29588828 17:31261810-31261810
2 NF1 NF1, IVS34, G-A, +18 SNV Pathogenic 351
3 NF1 NM_000267.3(NF1):c.1642-8A>G SNV Pathogenic 352 rs267606602 17:29548860-29548860 17:31221842-31221842
4 ARHGAP26 NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) SNV Pathogenic 5052 rs121918546 5:142421420-142421420 5:143041855-143041855
5 ARHGAP26 ARHGAP26, 52-BP INS Insertion Pathogenic 5053
6 ARHGAP26 ARHGAP26, 74-BP INS Insertion Pathogenic 5054
7 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
8 PTPN11 NM_002834.4(PTPN11):c.227A>T (p.Glu76Val) SNV Pathogenic 13337 rs121918465 12:112888211-112888211 12:112450407-112450407
9 PTPN11 NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) SNV Pathogenic 13338 rs121918465 12:112888211-112888211 12:112450407-112450407
10 PTPN11 NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) SNV Pathogenic 13339 rs121918465 12:112888211-112888211 12:112450407-112450407
11 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) SNV Pathogenic 13901 rs121434596 1:115258744-115258744 1:114716123-114716123
12 CBL NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) SNV Pathogenic 29824 rs387906666 11:119148892-119148892 11:119278182-119278182
13 PTPN11 NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) SNV Pathogenic 40556 rs121918458 12:112926884-112926884 12:112489080-112489080
14 PTPN11 NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) SNV Pathogenic 13332 rs121918458 12:112926884-112926884 12:112489080-112489080
15 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 39648 rs121913237 1:115258747-115258747 1:114716126-114716126
16 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
17 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 12583 rs121913529 12:25398284-25398284 12:25245350-25245350
18 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 177778 rs121913250 1:115258748-115258748 1:114716127-114716127
19 PTPN11 NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) SNV Pathogenic 228392 rs397507510 12:112888165-112888165 12:112450361-112450361
20 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 12:112926887-112926887 12:112489083-112489083
21 NF1 NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic 230673 rs778405030 17:29533315-29533315 17:31206297-31206297
22 NF1 NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) SNV Pathogenic 576444 rs1567847905 17:29554250-29554250 17:31227232-31227232
23 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic 68341 rs137854556 17:29562747-29562747 17:31235729-31235729
24 NF1 NM_000267.3(NF1):c.3870+1G>T SNV Pathogenic 565498 rs1131691075 17:29562791-29562791 17:31235773-31235773
25 NF1 NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) SNV Pathogenic 570950 rs1567862991 17:29587499-29587499 17:31260481-31260481
26 NF1 NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) SNV Pathogenic 208854 rs771529172 17:29654737-29654737 17:31327719-31327719
27 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) SNV Pathogenic 185354 rs786202112 17:29654857-29654857 17:31327839-31327839
28 NF1 NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) SNV Pathogenic 187652 rs786203896 17:29657486-29657486 17:31330468-31330468
29 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) SNV Pathogenic 343 rs137854552 17:29661945-29661945 17:31334927-31334927
30 NF1 NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) SNV Pathogenic 233869 rs876660696 17:29662034-29662034 17:31335016-31335016
31 NF1 NM_000267.3(NF1):c.5943+1G>A SNV Pathogenic 488817 rs1555534433 17:29662050-29662050 17:31335032-31335032
32 NF1 NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) SNV Pathogenic 185082 rs772295894 17:29665757-29665757 17:31338739-31338739
33 NF1 NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) SNV Pathogenic 428948 rs1131691073 17:29667571-29667571 17:31340553-31340553
34 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic 13325 rs121918454 12:112888199-112888199 12:112450395-112450395
35 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic 40489 rs397507506 12:112888158-112888158 12:112450354-112450354
36 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic 13334 rs121918462 12:112888202-112888202 12:112450398-112450398
37 NF1 NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) SNV Pathogenic 184261 rs786201367 17:29684326-29684326 17:31357308-31357308
38 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 12:112926887-112926887 12:112489083-112489083
39 NF1 NM_000267.3(NF1):c.2970_2971del (p.Met991fs) Deletion Pathogenic 663010 rs1597716432 17:29556972-29556973 17:31229954-31229955
40 ASXL1 NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) Deletion Pathogenic 812900 rs766433101 20:31022403-31022425 20:32434600-32434622
41 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic 13340 rs121918466 12:112888220-112888220 12:112450416-112450416
42 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic 13331 rs121918457 12:112926270-112926270 12:112488466-112488466
43 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic 13333 rs121918459 12:112888172-112888172 12:112450368-112450368
44 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic 13327 rs121918455 12:112915524-112915524 12:112477720-112477720
45 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic 13329 rs121918460 12:112888168-112888168 12:112450364-112450364
46 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic 40528 rs397507531 12:112910844-112910844 12:112473040-112473040
47 PTPN11 NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) SNV Pathogenic 40559 rs397507545 12:112926887-112926887 12:112489083-112489083
48 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic 40562 rs397507547 12:112926890-112926890 12:112489086-112489086
49 NF1 NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic 280055 rs886041347 17:29556079-29556079 17:31229061-31229061
50 KRAS NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) SNV Pathogenic 12580 rs112445441 12:25398281-25398281 12:25245347-25245347

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

Sources

Expression for Juvenile Myelomonocytic Leukemia

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

Pathways for Juvenile Myelomonocytic Leukemia

About this section

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

(show top 50) (show all 133)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.94 SOS1 RRAS RAF1 NRAS NF1 KRAS
2
TGF-Beta Pathway 63
Show member pathways
 13.65 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
3
Developmental Biology 65
Show member pathways
 13.61 SOS1 RRAS RAF1 PTPN11 NRAS NF1
4
Integrin Pathway 63
Show member pathways
 13.49 SOS1 RRAS RAF1 NRAS KRAS BRAF
5
Akt Signaling 63
Show member pathways
 13.49 SOS1 RRAS RAF1 NRAS KRAS FLT3
6
Cytokine Signaling in Immune system 65
Show member pathways
 13.45 SOS1 RAF1 PTPN11 NRAS NF1 KRAS
7
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.39 SOS1 RRAS RAF1 NRAS KRAS FLT3
8
IL-2 Pathway 63
Show member pathways
 13.32 SOS1 RRAS RAF1 NRAS KRAS CBL
9
Phospholipase-C Pathway 63
Show member pathways
 13.16 SOS1 RRAS RAF1 NRAS KRAS BRAF
10
G-Beta Gamma Signaling 63
Show member pathways
 13.14 SOS1 RRAS RAF1 NRAS KRAS BRAF
11
fMLP Pathway 63
Show member pathways
 13.1 SOS1 RRAS RAF1 NRAS KRAS CBL
12
Focal Adhesion 36 1
Show member pathways
 13.02 SOS1 RRAS RAF1 NRAS KRAS BRAF
13
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 13.02 SOS1 RAF1 PTPN11 NRAS KRAS CBL
14
CCR5 Pathway in Macrophages 63
Show member pathways
 13.01 SOS1 RRAS RAF1 NRAS KRAS BRAF
15
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.98 SOS1 RRAS RAF1 NRAS KRAS BRAF
16
Development Angiotensin activation of ERK 23
Show member pathways
 12.96 SOS1 RAF1 NRAS KRAS CBL BRAF
17
Beta-Adrenergic Signaling 63
Show member pathways
 12.93 SOS1 RRAS RAF1 NRAS KRAS CBL
18
Pathways in cancer 36
12.93 SOS1 RUNX1 RAF1 NRAS KRAS FLT3
19
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.89 SOS1 RAF1 PTPN11 KRAS CBL BRAF
20
Endometrial cancer 36
Show member pathways
 12.88 SOS1 RUNX1 RAF1 PTPN11 NRAS KRAS
21
Gastric cancer 36
Show member pathways
 12.86 SOS1 RAF1 NRAS KRAS BRAF
22
MAPK signaling pathway 36 1
12.84 SOS1 RRAS RAF1 NRAS NF1 KRAS
23
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.83 SOS1 PTPN11 NRAS KRAS CBL
24
Development HGF signaling pathway 23
Show member pathways
 12.83 SOS1 RAF1 PTPN11 NRAS KRAS CBL
25
Glioma 36
Show member pathways
 12.8 SOS1 RAF1 NRAS NF1 KRAS CBL
26
G-AlphaQ Signaling 63
Show member pathways
 12.79 SOS1 RRAS RAF1 NRAS KRAS BRAF
27
4-1BB Pathway 63
Show member pathways
 12.78 RRAS RAF1 NRAS KRAS BRAF
28
Regulation of actin cytoskeleton 36 1
12.76 SOS1 RRAS RAF1 NRAS KRAS BRAF
29
Ras signaling pathway 36
Show member pathways
 12.76 SOS1 RRAS RAF1 PTPN11 NRAS NF1
30
Negative regulation of FGFR1 signaling 65
Show member pathways
 12.7 SOS1 PTPN11 NRAS KRAS CBL BRAF
31
Immune response Fc epsilon RI pathway 23
Show member pathways
 12.69 SOS1 RAF1 PTPN11 NRAS KRAS CSF2
32
T cell receptor signaling pathway 36
Show member pathways
 12.68 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
33
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.63 SOS1 RAF1 NRAS KRAS BRAF
34
VEGF Signaling 66
Show member pathways
 12.62 SOS1 RAF1 NRAS KRAS CBL
35
MET promotes cell motility 65
Show member pathways
 12.61 SOS1 PTPN11 NRAS KRAS CBL
36
Prolactin Signaling Pathway 1 36
Show member pathways
 12.61 SOS1 RAF1 PTPN11 NRAS KRAS CBL
37
ErbB signaling pathway 36 1
Show member pathways
 12.58 SOS1 RRAS RAF1 PTPN11 NRAS NF1
38
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.57 SOS1 RAF1 PTPN11 NRAS KRAS CBL
39
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.57 SOS1 RAF1 PTPN11 NRAS KRAS CSF2
40
Oxytocin signaling pathway 36
Show member pathways
 12.56 RAF1 NRAS KRAS BRAF
41
RANK Signaling in Osteoclasts 63
Show member pathways
 12.55 RRAS RAF1 NRAS KRAS CBL BRAF
42
VEGF Pathway (Qiagen) 63
Show member pathways
 12.54 SOS1 RRAS RAF1 NRAS KRAS
43
Phospholipase D signaling pathway 36
Show member pathways
 12.53 SOS1 RRAS RAF1 PTPN11 NRAS KRAS
44
Development VEGF signaling via VEGFR2 - generic cascades 23
Show member pathways
 12.53 SOS1 RAF1 PTPN11 NF1 KRAS BRAF
45
JAK-STAT signaling pathway 36
Show member pathways
 12.5 SOS1 RAF1 PTPN11 CSF2
46
Development IGF-1 receptor signaling 23
Show member pathways
 12.48 SOS1 RAF1 PTPN11 CBL
47
EphB-EphrinB Signaling 63
Show member pathways
 12.48 SOS1 RRAS RAF1 CBL
48
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.48 SOS1 RRAS RAF1 NRAS KRAS FLT3
49
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 12.48 SOS1 RAF1 PTPN11 NRAS KRAS CBL
50
Paradoxical activation of RAF signaling by kinase inactive BRAF 65
Show member pathways
 12.43 RAF1 NRAS NF1 KRAS BRAF
Sources

GO Terms for Juvenile Myelomonocytic Leukemia

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.07 SOS1 RRAS RIT1 RAF1 NRAS NF1
2 actin cytoskeleton organization GO:0030036 9.8 SPECC1 NF1 KRAS ARHGAP26
3 cytokine-mediated signaling pathway GO:0019221 9.73 SOS1 PTPN11 KRAS FLT3 CSF2 CBL
4 hemopoiesis GO:0030097 9.7 RUNX1 FLT3 ASXL1
5 thymus development GO:0048538 9.65 RAF1 BRAF ASXL1
6 visual learning GO:0008542 9.63 NF1 KRAS BRAF
7 dendritic cell differentiation GO:0097028 9.56 FLT3 CSF2
8 MAPK cascade GO:0000165 9.56 SOS1 RAF1 NRAS NF1 KRAS FLT3
9 hematopoietic stem cell proliferation GO:0071425 9.55 RUNX1 ETV6
10 regulation of myeloid cell differentiation GO:0045637 9.54 RUNX1 CSF2
11 myeloid progenitor cell differentiation GO:0002318 9.51 FLT3 BRAF
12 neurotrophin TRK receptor signaling pathway GO:0048011 9.5 SOS1 RAF1 PTPN11
13 epidermal growth factor receptor signaling pathway GO:0007173 9.46 SOS1 PTPN11 CBL BRAF
14 vitellogenesis GO:0007296 9.43 SOS1 ETV6
15 forebrain astrocyte development GO:0021897 9.4 NF1 KRAS
16 Ras protein signal transduction GO:0007265 9.1 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 protein binding GO:0005515 10.13 SPECC1 SOS1 SETBP1 SAMD9L RUNX1 RRAS
2 protein-containing complex binding GO:0044877 9.43 RRAS RAF1 NRAS KRAS FLT3 BRAF
3 mitogen-activated protein kinase kinase binding GO:0031434 9.26 RAF1 BRAF
4 GDP binding GO:0019003 8.92 RRAS RIT1 NRAS KRAS
Sources

Sources for Juvenile Myelomonocytic Leukemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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