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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 9690719
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV175336
Name: NC_000011.9:g.(?_532631)_(534375_?)dup
Acc ID: DOID:0050469
Term: Costello syndrome
Definition: Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Definition Source(s): MESH:D056685, https://www.ncbi.nlm.nih.gov/pubmed/17250658, https://www.ncbi.nlm.nih.gov/pubmed/907573
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 8554872ClinVarClinVar Annotator: match by term: Costello syndrome

PMID:22318994, PMID:24033266, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.