PedAM

Pediatric Disease Annotations & Medicines


	spinocerebellar ataxia 2

Disease ID	797
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	ORPHANET:98756
OMIM	OMIM:183090 OMIM:271322
DOID	DOID:0050955 DOID:14784
UMLS	C0752121
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0025362 \| mental retardation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ATXN2 \| 6311 \| CLINVAR;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:91) 10368 \| CACNG3 \| DISEASES 83641 \| FAM107B \| DISEASES 5816 \| PVALB \| DISEASES 5173 \| PDYN \| DISEASES 3646 \| EIF3E \| DISEASES 10226 \| PLIN3 \| DISEASES 3202 \| HOXA5 \| DISEASES 10952 \| SEC61B \| DISEASES 23064 \| SETX \| DISEASES 6908 \| TBP \| DISEASES 6500 \| SKP1 \| DISEASES 23435 \| TARDBP \| DISEASES 6745 \| SSR1 \| DISEASES 6310 \| ATXN1 \| DISEASES 821 \| CANX \| DISEASES 2521 \| FUS \| DISEASES 29969 \| MDFIC \| DISEASES 85397 \| RGS8 \| DISEASES 6095 \| RORA \| DISEASES 1975 \| EIF4B \| DISEASES 79959 \| CEP76 \| DISEASES 492 \| ATP2B3 \| DISEASES 1656 \| DDX6 \| DISEASES 867 \| CBL \| DISEASES 9759 \| HDAC4 \| DISEASES 793 \| CALB1 \| DISEASES 6727 \| SRP14 \| DISEASES 6531 \| SLC6A3 \| DISEASES 3782 \| KCNN3 \| DISEASES 2911 \| GRM1 \| DISEASES 57338 \| JPH3 \| DISEASES 124801 \| LSM12 \| DISEASES 4760 \| NEUROD1 \| DISEASES 27306 \| HPGDS \| DISEASES 7047 \| TGM4 \| DISEASES 6571 \| SLC18A2 \| DISEASES 10605 \| PAIP1 \| DISEASES 3708 \| ITPR1 \| DISEASES 54715 \| RBFOX1 \| DISEASES 26986 \| PABPC1 \| DISEASES 84938 \| ATG4C \| DISEASES 5034 \| P4HB \| DISEASES 5121 \| PCP4 \| DISEASES 55505 \| NOP10 \| DISEASES 9939 \| RBM8A \| DISEASES 5521 \| PPP2R2B \| DISEASES 11315 \| PARK7 \| DISEASES 5132 \| PDC \| DISEASES 119391 \| GSTO2 \| DISEASES 9045 \| RPL14 \| DISEASES 10019 \| SH2B3 \| DISEASES 9863 \| MAGI2 \| DISEASES 3064 \| HTT \| DISEASES 6204 \| RPS10 \| DISEASES 5358 \| PLS3 \| DISEASES 1822 \| ATN1 \| DISEASES 617 \| BCS1L \| DISEASES 79947 \| DHDDS \| DISEASES 773 \| CACNA1A \| DISEASES 23230 \| VPS13A \| DISEASES 5071 \| PARK2 \| DISEASES 3632 \| INPP5A \| DISEASES 9446 \| GSTO1 \| DISEASES 27069 \| GHITM \| DISEASES 6709 \| SPTAN1 \| DISEASES 8894 \| EIF2S2 \| DISEASES 65018 \| PINK1 \| DISEASES 2512 \| FTL \| DISEASES 6311 \| ATXN2 \| DISEASES 22944 \| KIN \| DISEASES 203228 \| C9orf72 \| DISEASES 6194 \| RPS6 \| DISEASES 8644 \| AKR1C3 \| DISEASES 6456 \| SH3GL2 \| DISEASES 399664 \| MEX3D \| DISEASES 9454 \| HOMER3 \| DISEASES 12 \| SERPINA3 \| DISEASES 4287 \| ATXN3 \| DISEASES 11273 \| ATXN2L \| DISEASES 30011 \| SH3KBP1 \| DISEASES 6314 \| ATXN7 \| DISEASES 93986 \| FOXP2 \| DISEASES 6457 \| SH3GL3 \| DISEASES 6222 \| RPS18 \| DISEASES 3276 \| PRMT1 \| DISEASES 8867 \| SYNJ1 \| DISEASES 84441 \| MAML2 \| DISEASES 6949 \| TCOF1 \| DISEASES 6188 \| RPS3 \| DISEASES 488 \| ATP2A2 \| DISEASES 6141 \| RPL18 \| DISEASES
Locus	(Waiting for update.)

Disease ID	797
Disease	spinocerebellar ataxia 2
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:29) HP:0002198 \| Enlarged fourth ventricle HP:0001265 \| Decreased tendon reflexes HP:0002174 \| Postural tremor HP:0002070 \| Appendicular ataxia HP:0001151 \| Impaired horizontal smooth pursuit HP:0002015 \| Swallowing difficulty HP:0000514 \| Slow eye movements HP:0001310 \| Dysmetria HP:0002063 \| Muscle rigidity HP:0002067 \| Bradykinesia HP:0000640 \| Gaze-evoked nystagmus HP:0001252 \| Hypotonia HP:0002542 \| Olivopontocerebellar degeneration HP:0002503 \| Spinocerebellar tract degeneration HP:0002075 \| Dysdiadochokinesis HP:0002172 \| Postural instability HP:0002380 \| Muscle twitch HP:0002839 \| Urinary bladder sphincter dysfunction HP:0001257 \| Spasticity HP:0000726 \| Dementia HP:0002073 \| Cerebellar ataxia, progressive HP:0000657 \| Oculomotor apraxia HP:0000602 \| Ophthalmoplegia HP:0000510 \| Retinitis pigmentosa HP:0002495 \| Decreased vibration sense HP:0000641 \| Dysmetric eye movements HP:0003693 \| Muscle atrophy, distal HP:0001336 \| Myoclonic jerks HP:0001260 \| Dysarthric speech
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001249 \| Mental retardation \| 1

Disease ID	797
Disease	spinocerebellar ataxia 2
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0679466 \| cognitive deficits C0036341 \| schizophrenia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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