Disease_May_Have_Associated_Disease
Disease_Mapped_To_Gene
Pediatric Endocrinology Terminology
Cellosaurus Disease Terminology
HRAS Gene
Childhood Cancer Predisposition Study Terminology
CCPS Disease Terminology
RASopathy
HL Medical History Table
HL Authorized Value Terminology
Cellosaurus Terminology
Rhabdomyosarcoma
Rare Neoplastic Syndrome
Costello Syndrome
A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.
An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia.
C0587248
C84652
CCPS
Cellosaurus
Costello Syndrome
Costello Syndrome
Disease or Syndrome
NICHD
PCDC
NICHD Terminology