Fragile X Syndrome

Preferred Label : Fragile X Syndrome;

NCIt definition : 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.;

Alternative definition : NICHD: 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.;

Détails

Origin ID

C84717;

UMLS CUI

C0016667;

Automatic exact mappings (from CISMeF team)
- fragile x syndrome [EMDN type]
DO Cross reference
- fragile X syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fragile X chromosome [ICD-10 Sub-category (who)]
- Fragile X syndrome [ORDO Disease]
- Fragile X syndrome [OMIM Phenotype]
- Fragile X syndrome [ICD-9 code]
- Fragile X syndrome [MedDRA Preferred Term]
- Fragile X syndrome (disorder) [SNOMED CT concept]
- fragile X syndrome [DO Concept]
- fragile X syndrome [MeSH concept]
- fragile x syndrome [MedlinePlus Topic]
- fragile x syndrome [SNOMED Notion]
- fragile x syndrome [MeSH Descriptor]
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- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FMR1 Gene [NCIt concept]

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