eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spinocerebellar ataxia 2 | ||||
| Disease ID | 1439 |
|---|---|
| Disease | spinocerebellar ataxia 2 |
| Definition | Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2. |
| Synonym | ataxia 2, spinocerebellar ataxia 2s, spinocerebellar atrophy 2, olivopontocerebellar atrophy 2, spinocerebellar atrophy 2s, olivopontocerebellar atrophy 2s, spinocerebellar atrophy ii, olivopontocerebellar atrophy ii, spinocerebellar atrophy iis, olivopontocerebellar atrophy iis, spinocerebellar cerebellar degeneration with slow eye movements ii, olivopontocerebellar atrophy ii, spinocerebellar atrophy iis, olivopontocerebellar atrophy iis, spinocerebellar atrophy olivopontocerebellar atrophy 2 olivopontocerebellar atrophy 2s olivopontocerebellar atrophy ii olivopontocerebellar atrophy iis olivopontocerebellar atrophy, holguin type opca2 sca2 sdsem spinocerebellar ataxia 2s spinocerebellar ataxia type 002 spinocerebellar ataxia type 2 spinocerebellar ataxia type 2 (disorder) spinocerebellar ataxia with slow eye movements spinocerebellar ataxia, cuban type spinocerebellar ataxia-2 spinocerebellar atrophy 2 spinocerebellar atrophy 2s spinocerebellar atrophy ii spinocerebellar atrophy iis spinocerebellar degeneration with slow eye movements swami syndrome, wadia syndrome, wadia swami syndrome, wadia-swami type 2 spinocerebellar ataxia wadia swami syndrome wadia-swami syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0752121 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0035334 | retinitis pigmentosa | 1 C0497327 | dementia | 1 C0005745 | ptosis | 1 C0442874 | neuropathy | 1 C0030567 | parkinson disease | 1 C0851578 | sleep disorders | 1 C0025362 | mental retardation | 1 C0011570 | depression | 1 C0035333 | retinitis | 1 C0035309 | retinopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:51) 8644 | AKR1C3 | 1.342 | DISEASES 84938 | ATG4C | 2 | DISEASES 1822 | ATN1 | 2.937 | DISEASES 488 | ATP2A2 | 1.068 | DISEASES 6311 | ATXN2 | 8.145 | DISEASES 11273 | ATXN2L | 4.95 | DISEASES 4287 | ATXN3 | 5.651 | DISEASES 6314 | ATXN7 | 4.27 | DISEASES 617 | BCS1L | 2.159 | DISEASES 203228 | C9orf72 | 2.189 | DISEASES 773 | CACNA1A | 3.652 | DISEASES 79947 | DHDDS | 1.162 | DISEASES 8894 | EIF2S2 | 3.297 | DISEASES 93986 | FOXP2 | 1.457 | DISEASES 2512 | FTL | 1.595 | DISEASES 27069 | GHITM | 2.55 | DISEASES 9446 | GSTO1 | 1.373 | DISEASES 119391 | GSTO2 | 2.293 | DISEASES 9454 | HOMER3 | 2.888 | DISEASES 3064 | HTT | 1.373 | DISEASES 3632 | INPP5A | 3.441 | DISEASES 22944 | KIN | 2.484 | DISEASES 9863 | MAGI2 | 2.357 | DISEASES 84441 | MAML2 | 1.72 | DISEASES 399664 | MEX3D | 3.233 | DISEASES 55505 | NOP10 | 2.555 | DISEASES 5034 | P4HB | 1.131 | DISEASES 5071 | PARK2 | 2.526 | DISEASES 11315 | PARK7 | 1.666 | DISEASES 5121 | PCP4 | 2.426 | DISEASES 5132 | PDC | 1.842 | DISEASES 65018 | PINK1 | 1.992 | DISEASES 5358 | PLS3 | 2.06 | DISEASES 5521 | PPP2R2B | 2.317 | DISEASES 3276 | PRMT1 | 1.708 | DISEASES 9939 | RBM8A | 1.146 | DISEASES 9045 | RPL14 | 2.939 | DISEASES 6141 | RPL18 | 3.616 | DISEASES 6204 | RPS10 | 2.889 | DISEASES 6222 | RPS18 | 2.436 | DISEASES 6188 | RPS3 | 2.572 | DISEASES 6194 | RPS6 | 1.252 | DISEASES 12 | SERPINA3 | 2.223 | DISEASES 10019 | SH2B3 | 2.571 | DISEASES 6456 | SH3GL2 | 3.574 | DISEASES 6457 | SH3GL3 | 3.182 | DISEASES 30011 | SH3KBP1 | 2.556 | DISEASES 6709 | SPTAN1 | 1.65 | DISEASES 8867 | SYNJ1 | 2.424 | DISEASES 6949 | TCOF1 | 1.77 | DISEASES 23230 | VPS13A | 1.94 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1439 |
|---|---|
| Disease | spinocerebellar ataxia 2 |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0001310 | Dysmetria HP:0000640 | Gaze-evoked nystagmus HP:0002503 | Spinocerebellar tract degeneration HP:0002063 | Muscle rigidity HP:0002839 | Urinary bladder sphincter dysfunction HP:0000657 | Oculomotor apraxia HP:0002495 | Decreased vibration sense HP:0001336 | Myoclonic jerks HP:0000602 | Ophthalmoplegia HP:0002542 | Olivopontocerebellar degeneration HP:0001257 | Spasticity HP:0000514 | Slow eye movements HP:0000641 | Dysmetric eye movements HP:0002174 | Postural tremor HP:0001252 | Hypotonia HP:0002070 | Appendicular ataxia HP:0002067 | Bradykinesia HP:0002073 | Cerebellar ataxia, progressive HP:0001151 | Impaired horizontal smooth pursuit HP:0003693 | Muscle atrophy, distal HP:0001265 | Decreased tendon reflexes HP:0002075 | Dysdiadochokinesis HP:0000726 | Dementia HP:0002015 | Swallowing difficulty HP:0002380 | Muscle twitch HP:0002172 | Postural instability HP:0000510 | Retinitis pigmentosa HP:0002198 | Enlarged fourth ventricle HP:0001260 | Dysarthric speech |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0001300 | Parkinsonism | 3 HP:0002459 | Dysautonomia | 2 HP:0009830 | Peripheral neuritis | 1 HP:0001249 | Mental retardation | 1 HP:0002529 | Neuronal loss in central nervous system | 1 HP:0000488 | Noninflammatory retina disease | 1 HP:0000510 | Retinitis pigmentosa | 1 HP:0001272 | Cerebellar atrophy | 1 HP:0000716 | Depression | 1 HP:0002066 | Gait ataxia | 1 HP:0000726 | Dementia | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0006879 | Pontocerebellar atrophy | 1 HP:0100543 | Cognitive deficits | 1 |
| Disease ID | 1439 |
|---|---|
| Disease | spinocerebellar ataxia 2 |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (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) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000514 | Slow saccadic eye movements | MP:0000436 | abnormal head movements | any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell |
| 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:0002198 | Dilated fourth ventricle | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000510 | Rod-cone dystrophy | MP:0003225 | axonal dystrophy | axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism |
| HP:0002503 | Spinocerebellar tract degeneration | MP:0005405 | axon degeneration | retrogressive pathologic change in the single process of a nerve cell |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002070 | Limb ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
| HP:0002073 | Progressive cerebellar ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002198 | Dilated fourth ventricle | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002063 | Rigidity | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002174 | Postural tremor | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000657 | Oculomotor apraxia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002073 | Progressive cerebellar ataxia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002542 | Olivopontocerebellar atrophy | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000514 | Slow saccadic eye movements | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0000510 | Rod-cone dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002495 | Impaired vibratory sensation | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000641 | Dysmetric saccades | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002380 | Fasciculations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000640 | Gaze-evoked nystagmus | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| 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:0003693 | Distal amyotrophy | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002075 | Dysdiadochokinesis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002503 | Spinocerebellar tract degeneration | 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:0001151 | Impaired horizontal smooth pursuit | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002067 | Bradykinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002070 | Limb 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:0002172 | Postural instability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1439 |
|---|---|
| Disease | spinocerebellar ataxia 2 |
| Case | (Waiting for update.) |