Fragile X syndrome

Preferred Label : Fragile X syndrome;

Symbol : FXS;

CISMeF acronym : FXS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Martin-bell syndrome; Fragile X mental retardation syndrome; Mental retardation, X-linked, associated with marxq28; Marker X syndrome; X-linked mental retardation and macroorchidism;

Description : Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993). - Reviews Fragile X syndrome accounts for about one-half of cases of X-linked mental retardation and is the second most common cause of mental impairment after trisomy 21 (190685) (Rousseau et al., 1995). McCabe et al. (1999) summarized the proceedings of a workshop on the fragile X syndrome held in December 1998. Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the FMR1 gene (FMR1, 309550.0001);

Laboratory abnormalities : Folate-dependent fragile site at Xq28;

Prefixed ID : #300624;

Details

Origin ID

300624;

UMLS CUI

C0016667;

Automatic exact mappings (from CISMeF team)
- fragile x syndrome [EMDN type]
DO Cross reference
- fragile X syndrome [DO Concept]
Genes related to phenotype
- Fragile X messenger ribonucleoprotein 1 [OMIM gene]
HPO term(s)
- Abnormal head movements [HPO term]
- Autism [HPO term]
- Childhood onset [HPO term]
- Coarse facial features [HPO term]
- Congenital macroorchidism [HPO term]
- Folate-dependent fragile site at Xq28 [HPO term]
- Hyperactivity [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability, moderate [HPO term]
- Joint laxity [HPO term]
- Large forehead [HPO term]
- Long face [HPO term]
- Macrocephaly [HPO term]
- Macroorchidism, postpubertal [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Metacarpophalangeal joint hyperextensibility [HPO term]
- Mitral valve prolapse [HPO term]
- Pectus excavatum [HPO term]
- Periventricular heterotopia [HPO term]
- Pes planus [HPO term]
- Poor eye contact [HPO term]
- Prominent jaw [HPO term]
- Recurrent hand flapping [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-biting [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Fragile X syndrome [ORDO Disease]
- Symptomatic form of fragile X syndrome in female carriers [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fragile X Syndrome [NCIt concept]
- Fragile X chromosome [ICD-10 Sub-category (who)]
- Fragile X syndrome [MedDRA Preferred Term]
- Fragile X syndrome [ORDO Disease]
- Fragile X syndrome [ICD-9 code]
- Fragile X syndrome (disorder) [SNOMED CT concept]
- fragile X syndrome [MeSH concept]
- fragile X syndrome [DO Concept]
- fragile x syndrome [MedlinePlus Topic]
- fragile x syndrome [SNOMED Notion]
- fragile x syndrome [MeSH Descriptor]

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