Fragile X tremor/ataxia syndrome

Preferred Label : Fragile X tremor/ataxia syndrome;

Symbol : FXTAS;

CISMeF acronym : FXTAS;

Type : Phenotype, molecular basis known;

Description : 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. Amiri et al. (2008) provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function. The penetrance of FXTAS in male carriers aged 50 years and over, ascertained through families with a fragile X syndrome proband, is at least 33% (Hagerman and Hagerman, 2004); its penetrance in female carriers is approximately 5-10% (Greco et al., 2008).;

Inheritance : X-linked dominant;

Molecular basis : Caused by trinucleotide repeat expansion (CGG)n in the fragile site mental retardation gene (FMR1, 309550.0004);

Laboratory abnormalities : Increased intracellular FMRP mRNA; Decreased intracellular FMR protein;

Prefixed ID : #300623;

Details

Origin ID

300623;

UMLS CUI

C1839780;

Currated CISMeF NLP mapping
- Fragile X Tremor/Ataxia Syndrome [NCIt concept]
- Fragile X associated tremor ataxia syndrome (disorder) [SNOMED CT concept]
- Fragile X-associated tremor/ataxia syndrome [PASCAL descriptor]
- Fragile X-associated tremor/ataxia syndrome [ORDO Disease]
- fragile X associated tremor/ataxia syndrome [Disease (Nov.)]
- fragile X tremor ataxia syndrome [MeSH concept]
- fragile X tremor ataxia syndrome [MeSH Supplementary Concept]
- fragile X-associated tremor/ataxia syndrome [DO Concept]
DO Cross reference
- fragile X-associated tremor/ataxia syndrome [DO Concept]
Genes related to phenotype
- Fragile X messenger ribonucleoprotein 1 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Adult onset [HPO term]
- Anxiety [HPO term]
- Bowel incontinence [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Diffuse cerebral atrophy [HPO term]
- Disinhibition [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Hearing impairment [HPO term]
- Hyporeflexia [HPO term]
- Hypothyroidism [HPO term]
- Impaired distal vibration sensation [HPO term]
- Impaired tandem gait [HPO term]
- Impotence [HPO term]
- Intention tremor [HPO term]
- Mask-like facies [HPO term]
- Memory impairment [HPO term]
- Mental deterioration [HPO term]
- Myalgia [HPO term]
- Nystagmus [HPO term]
- Obsessive-compulsive trait [HPO term]
- Parkinsonism [HPO term]
- Peripheral neuropathy [HPO term]
- Poor fine motor coordination [HPO term]
- Postural tremor [HPO term]
- Premature ovarian insufficiency [HPO term]
- Resting tremor [HPO term]
- Saccadic smooth pursuit [HPO term]
- Urinary incontinence [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Fragile X-associated tremor/ataxia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fragile X Tremor/Ataxia Syndrome [NCIt concept]
- Fragile X associated tremor ataxia syndrome (disorder) [SNOMED CT concept]
- Fragile X-associated tremor/ataxia syndrome [ORDO Disease]
- Fragile X-associated tremor/ataxia syndrome [PASCAL descriptor]
- fragile X associated tremor/ataxia syndrome [Disease (Nov.)]
- fragile X tremor ataxia syndrome [MeSH Supplementary Concept]
- fragile X tremor ataxia syndrome [MeSH concept]
- fragile X-associated tremor/ataxia syndrome [DO Concept]

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