U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > CBL-related disorder

CBL-related disorder

Synonyms
CBL MUTATION-ASSOCIATED SYNDROME; CBL SYNDROME; NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

79 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (79 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C-CBL, CBL2, FRA11B, NSLL, RNF55, CBL
    Summary: Cbl proto-oncogene

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.