Terminology Service for NFDI4Health
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Fragile X Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C84717

A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. [ ]

Term info

Label

Fragile X Syndrome

Synonyms
  • Fragile X Syndrome
Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

An X-linked dominant syndrome caused by expansion of the CGG triplets in the 5' promoter region of the FMR1 gene to over 200 copies. This expansion becomes hypermethylated, silencing the FMR1 gene expression, and subsequently completely inhibiting the expression of the fragile X mental retardation protein 1 (FMRP). The condition is characterized by a variety of developmental, emotional, behavioral, and physical symptoms, including learning disabilities and macroorchidism. Intermediate expansion of the CGG triplet (between 55 and 200 repeats) may be associated with a milder phenotype due to reduced expression of FMRP.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

NICHD Hierarchy Term

Fragile X Syndrome

Preferred Name

Fragile X Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0016667

code

C84717