Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
gptkb:Martin-Bell_syndrome
|
| gptkbp:biologicalProcess |
FMRP involved in synaptic function
|
| gptkbp:causedBy |
mutation in FMR1 gene
|
| gptkbp:chromosomeAffected |
gptkb:X_chromosome
|
| gptkbp:complication |
gptkb:autism_spectrum_disorder
social anxiety learning disabilities seizures attention deficit |
| gptkbp:consequence |
hypermethylation of FMR1 promoter
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:James_P._Martin
1943 |
| gptkbp:frequency |
second most common genetic cause of intellectual disability after Down syndrome
most common inherited cause of intellectual disability |
| gptkbp:Gene |
gptkb:FMR1
|
| https://www.w3.org/2000/01/rdf-schema#label |
fragile X syndrome
|
| gptkbp:ICD-10_code |
Q99.2
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:MeSH_ID |
D005602
|
| gptkbp:moreSevereIn |
males
|
| gptkbp:mutationAssociatedWith |
CGG trinucleotide repeat expansion
|
| gptkbp:notableFeature |
anticipation in inheritance
premutation carriers may have FXTAS or FXPOI |
| gptkbp:OMIM |
300624
|
| gptkbp:organization |
gptkb:FRAXA_Research_Foundation
gptkb:National_Fragile_X_Foundation |
| gptkbp:prevalence |
1 in 4,000 males
1 in 8,000 females |
| gptkbp:proteinDeficiency |
gptkb:FMRP
|
| gptkbp:riskFactor |
family history
|
| gptkbp:screeningRecommendedFor |
children with developmental delay or autism
|
| gptkbp:symptom |
large ears
anxiety intellectual disability developmental delay hyperactivity autism spectrum features long face macroorchidism |
| gptkbp:treatment |
behavioral therapy
occupational therapy speech therapy supportive therapy medication for symptoms |
| gptkbp:bfsParent |
gptkb:MIND_Institute
gptkb:PTPN5 gptkb:X_chromosome gptkb:FMR1 |
| gptkbp:bfsLayer |
7
|