Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

Preferred Label : Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;

Symbol : NSLL;

CISMeF acronym : NSLL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cbl mutation-associated syndrome; Cbl syndrome;

Description : Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Cas-Br-M murine ecotropic retroviral transforming sequence homolog gene (CBL, 165360.0001);

Neoplasia : Increased susceptibility to juvenile myelomonocytic leukemia;

Prefixed ID : #613563;

Details

Origin ID

613563;

UMLS CUI

C3150803;

Currated CISMeF NLP mapping
- Noonan Syndrome-Like Disorder [NCIt concept]
- Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia [NCIt concept]
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [ORDO Disease]
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder) [SNOMED CT concept]
Genes related to phenotype
- Cbl protooncogene [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Cafe-au-lait spot [HPO term]
- Chylothorax [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Deep philtrum [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Fine hair [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Joint hypermobility [HPO term]
- Joint laxity [HPO term]
- Juvenile myelomonocytic leukemia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Lymphedema [HPO term]
- Macrotia [HPO term]
- Mitral regurgitation [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Thick vermilion border [HPO term]
- Triangular face [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [ORDO Disease]
See also inter- (CISMeF)
- CBL wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome-Like Disorder [NCIt concept]
- Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia [NCIt concept]
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [ORDO Disease]

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