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	dentatorubral pallidoluysian atrophy

Disease ID	1119
Disease	dentatorubral pallidoluysian atrophy
Definition	A rare, autosomal dominant inherited progressive neurodegenerative disorder. It is caused by a mutation in the ATN1 gene, resulting in a combined degeneration of the dentatorubral and pallidoluysian systems. It can appear at any age, but it usually affects individuals between 20 and 30 years and leads to death within 10-15 years. The clinical presentation depends on the age of the affected individual; juvenile patients develop severe progressive myoclonus epilepsy and cognitive decline, whereas adult patients develop ataxia, choreoathetosis and dementia.
Synonym	ataxia, chorea, seizures, and dementia atrophies, dentatorubral-pallidoluysian atrophy, dentatorubral-pallidoluysian dentatorubral-pallidoluysian atrophies dentatorubral-pallidoluysian atrophy dentatorubral-pallidoluysian atrophy (disorder) dentatorubral-pallidoluysian atrophy (drpla) dentatorubropallidoluysian atrophy dentatorubropallidoluysian degeneration dentatorubropallidoluysian degeneration (disorder) disease, naito-oyanagi diseases, naito-oyanagi drpla drpla - dentatorubropallidoluysian atrophy haw river syndrome haw river syndromes naito oyanagi disease naito-oyanagi disease naito-oyanagi diseases oyanagi disease, naito river syndrome, haw river syndromes, haw syndrome, haw river syndromes, haw river
Orphanet	ORPHANET:101
OMIM	OMIM:125370 OMIM:607462
DOID	DOID:0060162
UMLS	C0751781
SNOMED-CT	SNOMEDCT_US_2016_09_01:68116008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0004134 \| ataxia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1822 \| ATN1 \| CLINVAR;GHR;OMIM;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:49) 9625 \| AATK \| 2.36 \| DISEASES 111 \| ADCY5 \| 1.266 \| DISEASES 2334 \| AFF2 \| 3.699 \| DISEASES 8852 \| AKAP4 \| 1.906 \| DISEASES 54840 \| APTX \| 2.171 \| DISEASES 367 \| AR \| 3.93 \| DISEASES 1822 \| ATN1 \| 6.638 \| DISEASES 6311 \| ATXN2 \| 4.551 \| DISEASES 4287 \| ATXN3 \| 6.864 \| DISEASES 6314 \| ATXN7 \| 6.665 \| DISEASES 6315 \| ATXN8OS \| 4.023 \| DISEASES 773 \| CACNA1A \| 6.479 \| DISEASES 1203 \| CLN5 \| 1.114 \| DISEASES 1385 \| CREB1 \| 2.459 \| DISEASES 28514 \| DLL1 \| 3.825 \| DISEASES 1999 \| ELF3 \| 1.248 \| DISEASES 2259 \| FGF14 \| 4.535 \| DISEASES 2332 \| FMR1 \| 3.288 \| DISEASES 2512 \| FTL \| 2.635 \| DISEASES 2395 \| FXN \| 3.723 \| DISEASES 2987 \| GUK1 \| 1.868 \| DISEASES 3064 \| HTT \| 4.399 \| DISEASES 83737 \| ITCH \| 1.621 \| DISEASES 3736 \| KCNA1 \| 1.095 \| DISEASES 3748 \| KCNC3 \| 4.982 \| DISEASES 9223 \| MAGI1 \| 2.86 \| DISEASES 4566 \| MT-TK \| 2.599 \| DISEASES 4077 \| NBR1 \| 2.014 \| DISEASES 8202 \| NCOA3 \| 1.703 \| DISEASES 4734 \| NEDD4 \| 1.077 \| DISEASES 7080 \| NKX2-1 \| 1.508 \| DISEASES 7101 \| NR2E1 \| 2.235 \| DISEASES 5071 \| PARK2 \| 1.031 \| DISEASES 25894 \| PLEKHG4 \| 5.788 \| DISEASES 5454 \| POU3F2 \| 1.377 \| DISEASES 5521 \| PPP2R2B \| 6.444 \| DISEASES 5621 \| PRNP \| 2.39 \| DISEASES 146713 \| RBFOX3 \| 2.344 \| DISEASES 473 \| RERE \| 3.844 \| DISEASES 26278 \| SACS \| 1.992 \| DISEASES 6622 \| SNCA \| 1.483 \| DISEASES 6683 \| SPAST \| 2.376 \| DISEASES 7341 \| SUMO1 \| 2.279 \| DISEASES 7084 \| TK2 \| 3.681 \| DISEASES 84548 \| TMEM185A \| 3.434 \| DISEASES 339453 \| TMEM240 \| 4.08 \| DISEASES 10537 \| UBD \| 1.477 \| DISEASES 23230 \| VPS13A \| 2.36 \| DISEASES 11060 \| WWP2 \| 1.933 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) ATN1 \| 12p13.31

Disease ID	1119
Disease	dentatorubral pallidoluysian atrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000016 \| Urinary retention \| 1 HP:0001251 \| Ataxia \| 1 HP:0001336 \| Myoclonic jerks \| 1

Disease ID	1119
Disease	dentatorubral pallidoluysian atrophy
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)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs193922934	NA	1822	ATN1	umls:C0751781	CLINVAR	NA	0.245700279	NA	NA	NA	NA	NA	NA

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	1119
Disease	dentatorubral pallidoluysian atrophy
Case	(Waiting for update.)

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