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	machado-joseph disease

Disease ID	438
Disease	machado-joseph disease
Definition	A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
Synonym	3s, spinocerebellar ataxia ataxia 3, spinocerebellar ataxia 3s, spinocerebellar atrophy iii, spinocerebellar atrophy iiis, spinocerebellar autosomal dominant striatonigral degeneration azorean ataxia azorean dis azorean dis machado joseph azorean dis nervous system azorean disease azorean disease (disorder) azorean disease (machado joseph) azorean disease (machado-joseph) azorean disease, nervous system azorean disease, nos azorean neurologic disease degeneration, nigrospinodentatal degenerations, nigrospinodentatal disease joseph machado disease josephs disease josephs machado disease machado joseph disease machado josephs disease, azorean disease, azorean (machado-joseph) disease, azorean neurologic disease, joseph disease, joseph azorean disease, machado-joseph disease, machado-joseph azorean iii, spinocerebellar atrophy joseph azorean dis joseph azorean disease joseph dis joseph disease machado joseph azorean dis machado joseph azorean disease machado joseph dis machado joseph disease machado-joseph azorean disease machado-joseph disease [disease/finding] mjd mjd - machado-joseph disease nervous system azorean dis nervous system azorean disease neurologic disease, azorean nigrospinodentatal degeneration nigrospinodentatal degenerations portuguese-azorean disease sca3 spinocerebellar ataxia 3 spinocerebellar ataxia 3s spinocerebellar ataxia type 003 spinocerebellar ataxia type 3 spinocerebellar ataxia-3 spinocerebellar atrophy iii spinocerebellar atrophy iiis spinocerebellar atrophy type 3 spinopontine atrophy striatonigral degeneration, autosomal dominant type 3 spinocerebellar ataxia
Orphanet	ORPHANET:98757
OMIM	OMIM:109150
DOID	DOID:1440
UMLS	C0024408
MeSH	D017827
SNOMED-CT	SNOMEDCT_US_2016_09_01:91952008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0013421 \| dystonia \| 2 C0004134 \| ataxia \| 2 C0851578 \| sleep disorders \| 2 C0679466 \| cognitive deficits \| 1 C0497327 \| dementias \| 1 C0393571 \| multiple system atrophy \| 1 C0037317 \| sleep disturbance \| 1 C0037317 \| sleep disturbances \| 1 C0497327 \| dementia \| 1 C0752124 \| spinocerebellar ataxia type 6 \| 1 C0458219 \| complex regional pain syndrome \| 1 C0033975 \| psychosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4287 \| ATXN3 \| CLINVAR;CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4287 \| ATXN3 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:66) 135 \| ADORA2A \| 1.356 \| DISEASES 2334 \| AFF2 \| 1.724 \| DISEASES 54840 \| APTX \| 1.001 \| DISEASES 367 \| AR \| 2.728 \| DISEASES 1822 \| ATN1 \| 3.545 \| DISEASES 6311 \| ATXN2 \| 4.695 \| DISEASES 4287 \| ATXN3 \| 8.892 \| DISEASES 92552 \| ATXN3L \| 3.161 \| DISEASES 6314 \| ATXN7 \| 6.051 \| DISEASES 9532 \| BAG2 \| 2.727 \| DISEASES 9531 \| BAG3 \| 1.813 \| DISEASES 9529 \| BAG5 \| 2.017 \| DISEASES 8678 \| BECN1 \| 2.293 \| DISEASES 773 \| CACNA1A \| 5.837 \| DISEASES 9685 \| CLINT1 \| 1.884 \| DISEASES 1438 \| CSF2RA \| 1.031 \| DISEASES 1641 \| DCX \| 2.154 \| DISEASES 1743 \| DLST \| 2.173 \| DISEASES 3301 \| DNAJA1 \| 2.298 \| DISEASES 7266 \| DNAJC7 \| 2.846 \| DISEASES 2259 \| FGF14 \| 3.29 \| DISEASES 2332 \| FMR1 \| 1.459 \| DISEASES 2395 \| FXN \| 2.984 \| DISEASES 2643 \| GCH1 \| 1.37 \| DISEASES 3303 \| HSPA1A \| 1.255 \| DISEASES 3316 \| HSPB2 \| 1.751 \| DISEASES 3064 \| HTT \| 3.475 \| DISEASES 3717 \| JAK2 \| 1.279 \| DISEASES 126119 \| JOSD2 \| 3.429 \| DISEASES 3748 \| KCNC3 \| 2.493 \| DISEASES 1130 \| LYST \| 1.292 \| DISEASES 83876 \| MRO \| 1.752 \| DISEASES 4537 \| MT-ND3 \| 1.22 \| DISEASES 4566 \| MT-TK \| 1.668 \| DISEASES 4077 \| NBR1 \| 1.801 \| DISEASES 53829 \| P2RY13 \| 1.834 \| DISEASES 5071 \| PARK2 \| 2.567 \| DISEASES 54625 \| PARP14 \| 1.923 \| DISEASES 9463 \| PICK1 \| 1.612 \| DISEASES 65018 \| PINK1 \| 1.035 \| DISEASES 25894 \| PLEKHG4 \| 4.944 \| DISEASES 11284 \| PNKP \| 2.75 \| DISEASES 5521 \| PPP2R2B \| 5.446 \| DISEASES 5710 \| PSMD4 \| 1.522 \| DISEASES 5886 \| RAD23A \| 3.876 \| DISEASES 5887 \| RAD23B \| 2.605 \| DISEASES 146713 \| RBFOX3 \| 2.891 \| DISEASES 51128 \| SAR1B \| 1.633 \| DISEASES 5269 \| SERPINB6 \| 1.041 \| DISEASES 9892 \| SNAP91 \| 1.921 \| DISEASES 6622 \| SNCA \| 1.928 \| DISEASES 51429 \| SNX9 \| 1.648 \| DISEASES 8878 \| SQSTM1 \| 1.114 \| DISEASES 7341 \| SUMO1 \| 2.471 \| DISEASES 6949 \| TCOF1 \| 1.019 \| DISEASES 6999 \| TDO2 \| 1.127 \| DISEASES 8914 \| TIMELESS \| 1.511 \| DISEASES 7084 \| TK2 \| 2.51 \| DISEASES 8740 \| TNFSF14 \| 1.362 \| DISEASES 54802 \| TRIT1 \| 1.914 \| DISEASES 7311 \| UBA52 \| 2.254 \| DISEASES 10537 \| UBD \| 1.174 \| DISEASES 10277 \| UBE4B \| 3.284 \| DISEASES 29978 \| UBQLN2 \| 1.229 \| DISEASES 7415 \| VCP \| 3.561 \| DISEASES 286451 \| YIPF6 \| 2.45 \| DISEASES
Locus	(Waiting for update.)

Disease ID	438
Disease	machado-joseph disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:22) HP:0100543 \| Cognitive deficits \| 3 HP:0002015 \| Swallowing difficulty \| 2 HP:0002180 \| Neurodegeneration \| 2 HP:0001332 \| Dystonia \| 2 HP:0001251 \| Ataxia \| 2 HP:0001300 \| Parkinsonism \| 1 HP:0008568 \| Vestibular areflexia \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0012531 \| Pain \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0002120 \| Cerebral cortical atrophy \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0001284 \| Areflexia \| 1 HP:0000709 \| Psychosis \| 1 HP:0002353 \| Abnormal EEG \| 1 HP:0001337 \| Tremor \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0200136 \| Oral-pharyngeal dysphagia \| 1 HP:0010543 \| Opsoclonus \| 1 HP:0000726 \| Dementia \| 1 HP:0100022 \| Movement disorder \| 1 HP:0000708 \| Behavioral problems \| 1

Disease ID	438
Disease	machado-joseph disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:14) C2232698 \| sleep symptoms C2020637 \| chronic pain C1135207 \| ataxia C0740279 \| cerebellar atrophy C0694563 \| excessive daytime somnolence C0679466 \| cognitive deficits C0393593 \| dystonia C0235081 \| limb tremor C0086132 \| depressive symptoms C0042928 \| vocal cord paralysis C0031117 \| peripheral neuropathy C0026821 \| muscle cramps C0026821 \| muscle cramp C0007758 \| cerebellar ataxia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0013421 \| dystonia \| 2 C0011168 \| dysphagia \| 1 C0004134 \| ataxia \| 1 C0679466 \| cognitive deficits \| 1

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

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894345	20858900	26353	HSPB8	umls:C0024408	BeFree	Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8.	0.000271442	2010	HSPB8	12	119187080	G	C,T
rs104894351	20858900	26353	HSPB8	umls:C0024408	BeFree	Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8.	0.000271442	2010	HSPB8	12	119187078	A	G
rs193922928	NA	4287	ATXN3	umls:C0024408	CLINVAR	NA	0.323475577	NA	NA	NA	NA	NA	NA
rs709930	25689313	724066	ATXN8	umls:C0024408	BeFree	We tested two SNPs, rs709930 and rs910369, in the 3' UTR of ATXN3 gene for association with SCA3/MJD risk and with SCA3/MJD AO in an independent cohort of 170 patients with SCA3/MJD and 200 healthy controls from mainland China. rs709930 genotype frequencies were statistically significantly different between patients and controls (p = 0.001, α = 0.05).	0.005428837	2014	ATXN3	14	92064169	C	T
rs910369	25689313	724066	ATXN8	umls:C0024408	BeFree	We tested two SNPs, rs709930 and rs910369, in the 3' UTR of ATXN3 gene for association with SCA3/MJD risk and with SCA3/MJD AO in an independent cohort of 170 patients with SCA3/MJD and 200 healthy controls from mainland China. rs709930 genotype frequencies were statistically significantly different between patients and controls (p = 0.001, α = 0.05).	0.005428837	2014	ATXN3	14	92063938	C	A

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	438
Disease	machado-joseph disease
Case	(Waiting for update.)

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