Juvenile myelomonocytic leukemia

General Information (adopted from Orphanet):

Synonyms, Signs: CMML, INCLUDED
LEUKEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOMONOCYTIC, INCLUDED
JMML
Juvenile chronic myelomonocytic leukemia
Number of Symptoms 2
OrphanetNr: 86834
OMIM Id: 607785
ICD-10: C93.3
UMLs: C0349639
MeSH: D054429
MedDRA: 10023249
Snomed: 128832006
277587001
445227008

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance:
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myelodysplastic/myeloproliferative disease
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0012209) Juvenile myelomonocytic leukemia 3 / 7739
2
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Genotype-Phenotype Correlations OMIM Matsuda et al. (2007) reported 3 with patients with an NRAS or KRAS gly12-to-ser (G12S) mutation who showed spontaneous improvement of hematologic abnormalities lasting for 2 to 4 years with neither intensive therapy nor HSCT. They suggested that ...
Molecular genetics OMIM - Mutations Associated with Noonan Syndrome and JMML

Tartaglia et al. (2003) showed that germline mutations in PTPN11 lead to Noonan syndrome-1 (NS1; 163950) associated with JMML (T73I; 176876.0011), and that somatic mutations in PTPN11 are ...