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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300623
http://purl.bioontology.org/ontology/OMIM/300623
|
|---|---|
| Preferred Name | FRAGILE X TREMOR/ATAXIA SYNDROME |
| Synonyms |
FXTAS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | FXTAS
|
|---|---|
| prefLabel | FRAGILE X TREMOR/ATAXIA SYNDROME
|
| Gene Symbol |
FMR1
FRAXA
POF1
|
| Scope Statement | Caused by 55-200 expanded trinucleotide repeats in the FMR1 gene (309550) referred to as a 'premutation' [MISCELLANEOUS]
Males are more commonly affected than females [MISCELLANEOUS]
Onset in fifties or sixties [MISCELLANEOUS]
Caused by trinucleotide repeat expansion (CGG)n in the fragile X messenger ribonucleoprotein gene (FMR1, 309550.0004) [MOLECULAR BASIS]
Most patients have a family history of fragile X syndrome [MISCELLANEOUS]
Full mutations with expanded trinucleotide repeats greater than 200 result in fragile X mental retardation syndrome (300624) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq27.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300623
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1839780
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |