eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fragile x-associated tremor/ataxia syndrome | ||||
| Disease ID | 1677 |
|---|---|
| Disease | fragile x-associated tremor/ataxia syndrome |
| Definition | An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age. |
| Orphanet | |
| DOID | |
| UMLS | C1839780 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 2334 | AFF2 | 1.508 | DISEASES 6311 | ATXN2 | 1.415 | DISEASES 203228 | C9orf72 | 2.659 | DISEASES 10658 | CELF1 | 1.85 | DISEASES 1282 | COL4A1 | 1.49 | DISEASES 1798 | DPAGT1 | 1.509 | DISEASES 29102 | DROSHA | 1.562 | DISEASES 1974 | EIF4A2 | 2.137 | DISEASES 2170 | FABP3 | 1.929 | DISEASES 2332 | FMR1 | 7.921 | DISEASES 100126270 | FMR1-AS1 | 3.316 | DISEASES 2395 | FXN | 1.688 | DISEASES 2632 | GBE1 | 1.665 | DISEASES 3181 | HNRNPA2B1 | 2.435 | DISEASES 5654 | HTRA1 | 2.431 | DISEASES 4133 | MAP2 | 1.036 | DISEASES 9612 | NCOR2 | 1.309 | DISEASES 5521 | PPP2R2B | 1.956 | DISEASES 5813 | PURA | 2.217 | DISEASES 27316 | RBMX | 2.65 | DISEASES 55676 | SLC30A6 | 2.842 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FMR1 | Xq27.3 |
| Disease ID | 1677 |
|---|---|
| Disease | fragile x-associated tremor/ataxia syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:32) HP:0001310 | Dysmetria HP:0002015 | Dysphagia HP:0002839 | Urinary bladder sphincter dysfunction HP:0000722 | Obsessive-compulsive behavior HP:0002354 | Memory impairment HP:0001300 | Parkinsonism HP:0100515 | Pollakisuria HP:0001260 | Dysarthria HP:0012534 | Dysesthesia HP:0003326 | Myalgia HP:0001251 | Ataxia HP:0009830 | Peripheral neuropathy HP:0002615 | Hypotension HP:0000822 | Hypertension HP:0002066 | Gait ataxia HP:0001265 | Hyporeflexia HP:0002120 | Cerebral cortical atrophy HP:0000739 | Anxiety HP:0002067 | Bradykinesia HP:0001288 | Gait disturbance HP:0002080 | Intention tremor HP:0002607 | Bowel incontinence HP:0002063 | Rigidity HP:0000726 | Dementia HP:0002363 | Abnormality of brainstem morphology HP:0000802 | Impotence HP:0002459 | Dysautonomia HP:0001324 | Muscle weakness HP:0000716 | Depression HP:0030216 | Inertia HP:0100275 | Diffuse cerebellar atrophy HP:0000821 | Hypothyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1677 |
|---|---|
| Disease | fragile x-associated tremor/ataxia syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000722 | Obsessive-compulsive behavior | MP:0009456 | impaired cued conditioning behavior | decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) |
| HP:0002363 | Abnormality of brainstem morphology | MP:0004568 | fusion of glossopharyngeal and vagus nerve | union of the ninth and tenth cranial nerves into a single structure |
| HP:0002066 | Gait ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
| HP:0002839 | Urinary bladder sphincter dysfunction | MP:0011874 | enlarged urinary bladder | increased size of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002063 | Rigidity | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000802 | Impotence | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002080 | Intention tremor | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001265 | Hyporeflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001310 | Dysmetria | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001300 | Parkinsonism | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002459 | Dysautonomia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000722 | Obsessive-compulsive behavior | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002839 | Urinary bladder sphincter dysfunction | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| HP:0002607 | Bowel incontinence | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002066 | Gait ataxia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002363 | Abnormality of brainstem morphology | MP:0012817 | rhombomere fusion | the union of one or more rhombomeres into a single structure |
| HP:0100275 | Diffuse cerebellar atrophy | MP:0009643 | abnormal urine homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine |
| HP:0002067 | Bradykinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0012534 | Dysesthesia | MP:0011091 | prenatal lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5) |
| Disease ID | 1677 |
|---|---|
| Disease | fragile x-associated tremor/ataxia syndrome |
| Case | (Waiting for update.) |