Disease: Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia

Name Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia

Synonyms CBL MUTATION-ASSOCIATED SYNDROME , CBL SYNDROME

Classification cardiac, cardiac malformation, developmental, genetic, neoplastic, neurological

Phenotypes Aortic valve stenosis; Autosomal dominant inheritance; Bicuspid aortic valve; Cafe-au-lait spot; Chylothorax; Cryptorchidism; Cubitus valgus; Deep philtrum; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Fine hair; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypertelorism; Joint hypermobility; Joint laxity; Juvenile myelomonocytic leukemia; Long philtrum; Low-set ears; Lymphedema; Macrotia; Mitral regurgitation; Pectus excavatum; Polyhydramnios; Posteriorly rotated ears; Ptosis; Short neck; Short stature; Sparse hair; Thick vermilion border; Triangular face; Webbed neck; Wide intermamillary distance

Associated Genes CBL (Withdrawn symbols: CBL2, RNF55, c-Cbl )

Mouse Orthologs Cbl (Withdrawn symbols: 4732447J05Rik, Cbl-2, cbl )

Source OMIM:613563 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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