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	spinocerebellar ataxia 1

Disease ID	1129
Disease	spinocerebellar ataxia 1
Definition	Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.
Synonym	ataxia 1, spinocerebellar atrophy i, olivopontocerebellar atrophy i, spinocerebellar atrophy iv, olivopontocerebellar atrophy ivs, olivopontocerebellar cerebelloparenchymal disorder i cerebelloparenchymal disorder is cpd1 menzel type opca olivopontocerebellar atrophy i olivopontocerebellar atrophy is olivopontocerebellar atrophy iv olivopontocerebellar atrophy ivs opca i opca iv opca, menzel type opca, schut-haymaker type opca1 opca4 sca1 sca1s schut haymaker type opca schut-haymaker type opca spinocerebellar ataxia 1s spinocerebellar ataxia type 001 spinocerebellar ataxia type 1 spinocerebellar ataxia type 1 (disorder) spinocerebellar ataxia-1 spinocerebellar atrophy i spinocerebellar atrophy is type 1 spinocerebellar ataxia
Orphanet	ORPHANET:98755
OMIM	OMIM:164400
DOID	DOID:0050954
UMLS	C0752120
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0442874 \| neuropathy \| 2 C0004134 \| ataxia \| 2 C0014544 \| epilepsy \| 2 C0029124 \| optic atrophy \| 1 C0730290 \| cone dystrophy \| 1 C0036349 \| paranoid schizophrenia \| 1 C0851578 \| sleep disorders \| 1 C0031117 \| peripheral neuropathy \| 1 C1848954 \| generalized dystonia \| 1 C0085541 \| frontal lobe epilepsy \| 1 C0013421 \| dystonia \| 1 C0029132 \| optic neuropathy \| 1 C0022116 \| ischemia \| 1 C0035304 \| retinal degeneration \| 1 C0014556 \| temporal lobe epilepsy \| 1 C0033975 \| psychosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6310 \| ATXN1 \| CLINVAR;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:51) 2334 \| AFF2 \| 3.316 \| DISEASES 8852 \| AKAP4 \| 2.327 \| DISEASES 8125 \| ANP32A \| 4.777 \| DISEASES 367 \| AR \| 2.832 \| DISEASES 1822 \| ATN1 \| 1.363 \| DISEASES 342371 \| ATXN1L \| 6.054 \| DISEASES 6311 \| ATXN2 \| 2.31 \| DISEASES 4287 \| ATXN3 \| 5.372 \| DISEASES 6314 \| ATXN7 \| 4.164 \| DISEASES 617 \| BCS1L \| 2.044 \| DISEASES 773 \| CACNA1A \| 4.011 \| DISEASES 1121 \| CHM \| 1.398 \| DISEASES 1122 \| CHML \| 2.505 \| DISEASES 1431 \| CS \| 1.479 \| DISEASES 7913 \| DEK \| 1.433 \| DISEASES 23405 \| DICER1 \| 1.648 \| DISEASES 1760 \| DMPK \| 1.098 \| DISEASES 3301 \| DNAJA1 \| 2.932 \| DISEASES 1813 \| DRD2 \| 1.459 \| DISEASES 2118 \| ETV4 \| 1.242 \| DISEASES 2332 \| FMR1 \| 2.093 \| DISEASES 23462 \| HEY1 \| 1.404 \| DISEASES 9454 \| HOMER3 \| 2.772 \| DISEASES 3064 \| HTT \| 2.982 \| DISEASES 23463 \| ICMT \| 2.051 \| DISEASES 10524 \| KAT5 \| 2.554 \| DISEASES 51360 \| MBTPS2 \| 1.961 \| DISEASES 9612 \| NCOR2 \| 1.157 \| DISEASES 51701 \| NLK \| 2.41 \| DISEASES 56654 \| NPDC1 \| 3.421 \| DISEASES 11315 \| PARK7 \| 1.639 \| DISEASES 26227 \| PHGDH \| 1.945 \| DISEASES 25894 \| PLEKHG4 \| 2.846 \| DISEASES 5515 \| PPP2CA \| 1.711 \| DISEASES 5521 \| PPP2R2B \| 3.013 \| DISEASES 9588 \| PRDX6 \| 1.475 \| DISEASES 51334 \| PRR16 \| 2.074 \| DISEASES 5663 \| PSEN1 \| 1.192 \| DISEASES 9698 \| PUM1 \| 2.649 \| DISEASES 8480 \| RAE1 \| 3.146 \| DISEASES 23543 \| RBFOX2 \| 2.352 \| DISEASES 84991 \| RBM17 \| 4.54 \| DISEASES 3516 \| RBPJ \| 1.149 \| DISEASES 6256 \| RXRA \| 1.342 \| DISEASES 6683 \| SPAST \| 1.221 \| DISEASES 6789 \| STK4 \| 2.331 \| DISEASES 7341 \| SUMO1 \| 1.124 \| DISEASES 7222 \| TRPC3 \| 1.636 \| DISEASES 29978 \| UBQLN2 \| 1.775 \| DISEASES 56893 \| UBQLN4 \| 3.566 \| DISEASES 7874 \| USP7 \| 1.708 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1129
Disease	spinocerebellar ataxia 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0002180 \| Neurodegeneration \| 2 HP:0001251 \| Ataxia \| 2 HP:0007663 \| Central visual loss \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0001257 \| Spasticity \| 1 HP:0007325 \| Generalized dystonia \| 1 HP:0000546 \| Retinal degeneration \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0002664 \| Neoplasia \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0001332 \| Dystonia \| 1 HP:0001824 \| Weight loss \| 1 HP:0004305 \| Involuntary muscle contractions \| 1 HP:0001262 \| Somnolence \| 1 HP:0000709 \| Psychosis \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0002344 \| Progressive neurologic deterioration \| 1

Disease ID	1129
Disease	spinocerebellar ataxia 1
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0520966 \| incoordination
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0694563 \| excessive daytime somnolence \| 1

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

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1476464	16133185	6625	SNRNP70	umls:C0752120	BeFree	The haplotype C-4-C defined by rs1476464 (SNP9)-D6S288-rs2075974 (SNP1), which was extremely rare in nonaffected chromosomes (approximately 3%), was observed to be significantly (P<0.0000) associated with the expanded chromosomes in approximately 44% of SCA1 families.	0.000271442	2005	ATXN1	6	16392057	A	C
rs193922926	NA	6310	ATXN1	umls:C0752120	CLINVAR	NA	0.342529675	NA	NA	NA	NA	NA	NA
rs2075974	16133185	6625	SNRNP70	umls:C0752120	BeFree	The haplotype C-4-C defined by rs1476464 (SNP9)-D6S288-rs2075974 (SNP1), which was extremely rare in nonaffected chromosomes (approximately 3%), was observed to be significantly (P<0.0000) associated with the expanded chromosomes in approximately 44% of SCA1 families.	0.000271442	2005	ATXN1	6	16327099	T	C

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.)

Disease ID	1129
Disease	spinocerebellar ataxia 1
Case	(Waiting for update.)

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