| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
28857524 (5577649) |
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. Lechpammer M, Martinez Cerdeno V, Hunsaker MR, Hah M, Gonzales H, Tisch S, Joffe R, Pamphlett R, Tassone F, Hagerman PJ, Bolitho SJ, Hagerman RJ. Croat Med J. 2017;58(4):310-315. |
| Rimmed vacuoles | ||
| Ataxia Fatal Outcome Females Fragile X Syndrome Homo sapiens Male Middle Aged Tremor | ||
| 2 (4.0%) |
30186228 (6113389) |
Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia. Famula JL, McKenzie F, McLennan YA, Grigsby J, Tassone F, Hessl D, Rivera SM, Martinez-Cerdeno V, Hagerman RJ. Front Neurol. 2018;9:695. |
| Ataxia | ||
| CD46 FMR1 | ||
| 2 (4.0%) |
29997574 (6030249) |
Making a Difference-Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Alster P, Koziorowski DM, Za Bek M, Dzierzȩcki S, Ma Dry J, Duszynska-Wa S K, Grygarowicz H, Zielonko J, Krolicki L, Friedman A. Front Neurol. 2018;9:512. |
| Dementia | ||
| VIM | ||
| 2 (4.0%) |
29213666 (5619536) |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome. Nitrini R, Goncalves MRR, Capelli LP, Barbosa ER, Porto CS, Amaro E, Otto PA, Vianna-Morgante AM. Dement Neuropsychol. 2010;4(1):79-83. |
| Dementia | ||
| FMR1 | ||
| 2 (4.0%) |
28469864 (5412812) |
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome. Martinez-Cerdeno V, Lechpammer M, Noctor S, Ariza J, Hagerman P, Hagerman R. Clin Case Rep. 2017;5(5):625-629. |
| Obesity | ||
| 2 (4.0%) |
28131561 |
[Fragile X syndrome and white matter abnormalities: Case study of two brothers]. Wallach E, Bieth E, Sevely A, Cances C. Arch Pediatr. 2017;24(3):244-248. |
| Anxiety | ||
| FMR1 | ||
| Brain Child, Preschool DNA Mutational Analysis Fragile X Mental Retardation Protein Fragile X Syndrome Genetic Carrier Screening Homo sapiens Magnetic Resonance Imaging Male Mosaicism Phenotype Trinucleotide Repeat Expansion | ||
| 2 (4.0%) |
27657133 (5042398) |
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE. Genes (Basel). 2016;7(9):. |
| Ataxia | ||
| FMR1 | ||
| 2 (4.0%) |
27414076 |
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. Robertson EE, Hall DA, McAsey AR, O'Keefe JA. Clin Neuropsychol. 2016;30(6):849-900. |
| Autism | ||
| FMR1 | ||
| Ataxia Disease Progression Females Fragile X Mental Retardation Protein Fragile X Syndrome Homo sapiens Magnetic Resonance Imaging Male Middle Aged Movement Disorders Neuroimaging Neuropsychological Tests Parkinson Disease Phenotype Tremor | ||
| 2 (4.0%) |
27375149 |
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. Tamas G, Kovacs N, Varga NA, Barsi P, Erss L, Molnar MJ, Balas I. Neurol Neurochir Pol. 2016;50(4):303-8. |
| Nystagmus | ||
| FMR1 | ||
| Ataxia Deep Brain Stimulation Fragile X Syndrome Homo sapiens Magnetic Resonance Imaging Male Neurosurgical Procedures Tremor | ||
| 2 (4.0%) |
27355575 |
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. Bourgeois JA. Clin Neuropsychol. 2016;30(6):913-28. |
| Dementia | ||
| Adult Anxiety Disorders Ataxia Dementia Females Fragile X Mental Retardation Protein Fragile X Syndrome Heterozygote Homo sapiens Male Mutation Neuropsychological Tests Phenotype Tremor |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000726 | Dementia | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001260 | Dysarthria | Very frequent (99-80%) |
| HP:0001288 | Gait disturbance | Very frequent (99-80%) |
| HP:0001310 | Dysmetria | Very frequent (99-80%) |
| HP:0002066 | Gait ataxia | Very frequent (99-80%) |
| HP:0002080 | Intention tremor | Very frequent (99-80%) |
| HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
| HP:0002354 | Memory impairment | Very frequent (99-80%) |
| HP:0030216 | Inertia | Very frequent (99-80%) |
| HP:0000716 | Depressivity | Frequent (79-30%) |
| HP:0000722 | Obsessive-compulsive behavior | Frequent (79-30%) |
| HP:0000739 | Anxiety | Frequent (79-30%) |
| HP:0000802 | Impotence | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0002063 | Rigidity | Frequent (79-30%) |
| HP:0002459 | obsolete Dysautonomia | Frequent (79-30%) |
| HP:0002839 | Urinary bladder sphincter dysfunction | Frequent (79-30%) |
| HP:0009830 | Peripheral neuropathy | Frequent (79-30%) |
| HP:0012534 | Dysesthesia | Frequent (79-30%) |
| HP:0100275 | Diffuse cerebellar atrophy | Frequent (79-30%) |
| HP:0100515 | Pollakisuria | Frequent (79-30%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000822 | Hypertension | Occasional (29-5%) |
| HP:0001300 | Parkinsonism | Occasional (29-5%) |
| HP:0002015 | Dysphagia | Occasional (29-5%) |
| HP:0002067 | Bradykinesia | Occasional (29-5%) |
| HP:0002363 | Abnormality of brainstem morphology | Occasional (29-5%) |
| HP:0002607 | Bowel incontinence | Occasional (29-5%) |
| HP:0002615 | Hypotension | Occasional (29-5%) |
| HP:0003326 | Myalgia | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001251 | Ataxia | 11 |
| HP:0001337 | Tremor | 8 |
| HP:0001300 | Parkinsonism | 4 |
| HP:0000822 | Hypertension | 3 |
| HP:0000717 | Autism | 2 |
| HP:0000726 | Dementia | 2 |
| HP:0000739 | Anxiety | 2 |
| HP:0000821 | Hypothyroidism | 2 |
| HP:0002080 | Intention tremor | 2 |
| HP:0009830 | Peripheral neuropathy | 2 |
| HP:0030186 | Kinetic tremor | 2 |
| HP:0000486 | Strabismus | 1 |
| HP:0000651 | Diplopia | 1 |
| HP:0000980 | Pallor | 1 |
| HP:0002066 | Gait ataxia | 1 |
| HP:0002174 | Postural tremor | 1 |
| HP:0007018 | Attention deficit hyperactivity disorder | 1 |
| HP:0100543 | Cognitive impairment | 1 |