Machado-Joseph Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MJD MCID: MCH002 MIFTS: 62	Machado-Joseph Disease (MJD) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Machado-Joseph Disease

MalaCards integrated aliases for Machado-Joseph Disease:

Name: Machado-Joseph Disease ⁵⁷ ¹² ²⁵ ²⁰ ⁴³ ⁵³ ⁵⁸ ⁷³ ³⁶ ¹³ ⁵⁴ ⁴⁴ ¹⁵ ⁷¹

Sca3 ⁵⁷ ¹² ²⁵ ²⁰ ⁴³ ⁵⁸ ⁷³

Mjd ⁵⁷ ¹² ²⁰ ⁴³ ⁵⁸ ⁷³

Spinocerebellar Ataxia Type 3 ¹² ²⁵ ⁴³ ⁵⁸

Spinocerebellar Ataxia 3 ⁵⁷ ¹² ²⁰ ⁷³

Azorean Disease ¹² ⁴³ ²⁹ ⁶

Nigrospinodentatal Degeneration ⁵⁷ ²⁰ ⁷³

Azorean Neurologic Disease ⁵⁷ ²⁰ ⁷³

Spinopontine Atrophy ⁵⁷ ²⁰ ⁷¹

Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia ⁵⁸

Azorean Disease of the Nervous System ⁵⁸

Spinocerebellar Ataxia 3; Sca3 ⁵⁷

Spinocerebellar Atrophy Type 3 ²⁰

Spinocerebellar Atrophy Iii ⁵⁷

Spinocerebellar Atrophy ⁷³

Disease, Machado-Joseph ³⁹

Ataxia, Spinocerebellar ⁷¹

Machado Disease ⁵⁸

Azorean Ataxia ⁴³

Characteristics:

Orphanet epidemiological data:

⁵⁸

spinocerebellar ataxia type 3
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Portugal),1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Miscellaneous:
genetic anticipation
progressive disorder
onset in third to fourth decade
wide clinical variability
normal alleles contain up to 44 repeats
pathogenic alleles contain 52 to 86 repeats
incomplete penetrance with 45 to 51 repeats

Inheritance:
autosomal dominant

HPO:

³¹

machado-joseph disease:
Inheritance autosomal dominant inheritance genetic anticipation
Onset and clinical course progressive

GeneReviews:

²⁵

Penetrance In sca3, penetrance approaches 100% and is age related....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Other hereditary ataxias

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:1440

OMIM® ⁵⁷ 109150

OMIM Phenotypic Series ⁵⁷ PS164400

KEGG ³⁶ H01478

MeSH ⁴⁴ D017827 D020754

NCIt ⁵⁰ C84830

SNOMED-CT ⁶⁷ 91952008

ICD10 via Orphanet ³³ G11.8

UMLS via Orphanet ⁷² C0024408

Orphanet ⁵⁸ ORPHA98757

MedGen ⁴¹ C0024408

UMLS ⁷¹ C0024408 C0087012 C0520719

Sources

Summaries for Machado-Joseph Disease

MedlinePlus Genetics : ⁴³ Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.Over time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving.Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA3 eventually require wheelchair assistance. They usually survive 10 to 20 years after symptoms first appear.

MalaCards based summary : Machado-Joseph Disease, also known as sca3, is related to olivopontocerebellar atrophy and spinocerebellar degeneration, and has symptoms including ataxia, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Spinocerebellar ataxia and Protein processing in endoplasmic reticulum. The drugs Lithium carbonate and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and cerebellum, and related phenotypes are hyperreflexia and abnormal pyramidal sign

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

GARD : ²⁰ Spinocerebellar ataxia 3 (SCA3) is a rare, inherited form of ataxia. Signs and symptoms may begin between childhood and late adulthood and vary greatly. Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity. Some people with SCA3 develop dystonia or symptoms similar to those of Parkinson's disease; twitching of the face or tongue; nerve damage (neuropathy); or problems with urination and the autonomic nervous system. SCA3 is caused by a mutation in the ATXN3 gene and inheritance is autosomal dominant. There is no medication that slows the progressive course of the disease; management aims to relieve some symptoms and improve quality of life. Life expectancy ranges from the mid-30s for those with the most severe forms, to a nearly normal life expectancy for those with milder forms.

OMIM® : ⁵⁷ Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease. Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008). (109150) (Updated 05-Mar-2021)

NINDS : ⁵³ Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.

KEGG : ³⁶ Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the most common hereditary ataxias and is distributed worldwide. MJD is an autosomal dominant neurodegenerative disorder, involving predominantly the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Minor, but more specific, features such as external progressive ophthalmoplegia (EPO), dystonia, intention fasciculation-like movements of facial and lingual muscles, as well as bulging eyes, may also be of major importance for the clinical diagnosis of MJD. The mean age at onset is around 40 years. MJD is associated with CAG repeat expansions in the ATXN3 gene. CAG repeat varies in size among affected persons. There is no effective treatment of ataxia. Case series and small controlled trials of several medications including antianxiolytics, antidepressants, and antiepileptics have shown limited efficacy.

UniProtKB/Swiss-Prot : ⁷³ Spinocerebellar ataxia 3: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

Wikipedia : ⁷⁴ Machado-Joseph disease (MJD), also known as Machado-Joseph Azorean disease, Machado's disease, Joseph's... more...

GeneReviews: NBK1196

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Related Diseases for Machado-Joseph Disease

Diseases in the Machado-Joseph Disease family:

Machado-Joseph Disease Type 1	Machado-Joseph Disease Type 3
Machado-Joseph Disease Type 2

Diseases related to Machado-Joseph Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)

#	Related Disease	Score	Top Affiliating Genes
1	olivopontocerebellar atrophy	32.7	SNCA SLC6A3 RPS27A CACNA1A ATXN7 ATXN2
2	spinocerebellar degeneration	32.6	ATXN3 ATXN2 ATXN1
3	spinocerebellar ataxia 2	32.0	HTT CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2
4	spinocerebellar ataxia 1	31.7	TBP HTT CACNA1A ATXN8OS ATXN7 ATXN3
5	parkinsonism	31.6	SNCA SLC6A3 ATXN2
6	sleep disorder	31.5	SNCA SLC6A3 HTR1A ATXN3
7	rem sleep behavior disorder	31.4	SNCA SLC6A3 RPS27A PRKN
8	muscular atrophy	31.2	SNCA HTT ATXN3 ATXN1
9	autosomal dominant cerebellar ataxia	31.1	VCP TBP SNCA RPS27A PRKN LOC108663987
10	dystonia	31.0	TBP SLC6A3 PRKN HTT CACNA1A ATXN7
11	multiple system atrophy 1	30.9	SNCA SLC6A3 RPS27A PRKN HTT ATXN1
12	movement disease	30.8	SNCA SLC6A3 PRKN HTT CACNA1A
13	huntington disease	30.7	TBP SNCA HTT BECN1 ATXN7 ATXN3
14	motor neuron disease	30.7	VCP SNCA RPS27A PRKN HTT HTR1A
15	spinocerebellar ataxia 8	30.6	HTT ATXN8OS ATXN7 ATXN2 ATXN1
16	restless legs syndrome	30.6	TBP SNCA SLC6A3 PRKN LOC108663987 CACNA1A
17	episodic ataxia	30.6	CACNA1A ATXN7 ATXN1
18	dentatorubral-pallidoluysian atrophy	30.5	TBP SNCA PRKN HTT CACNA1A ATXN8OS
19	episodic ataxia, type 2	30.5	CACNA1A ATXN7 ATXN2 ATXN1
20	friedreich ataxia	30.5	TBP CACNA1A ATXN8OS ATXN3 ATXN2 ATXN1
21	amyotrophic lateral sclerosis 1	30.5	VCP SNCA SLC6A3 RPS27A PRKN HTT
22	spinocerebellar ataxia 10	30.5	ATXN8OS ATXN7 ATXN3 ATXN2 ATN1
23	hereditary ataxia	30.5	TBP CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2
24	spinocerebellar ataxia 6	30.3	TBP CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2
25	parkinson disease, late-onset	30.1	VCP TBP SNCA SLC6A3 RPS27A PRKN
26	choreatic disease	29.9	TBP SNCA SLC6A3 PRKN HTT CACNA1A
27	spinocerebellar ataxia 7	29.9	TBP HTT ATXN8OS ATXN7 ATXN3 ATXN2
28	dementia	29.8	VCP SNCA SLC6A3 RPS27A PRKN HTT
29	cerebellar disease	29.6	TBP SNCA PRKN HTT CACNA1A ATXN8OS
30	spinocerebellar ataxia, autosomal recessive 3	11.3
31	spinocerebellar ataxia, x-linked 3	11.3
32	machado-joseph disease type 1	11.3
33	machado-joseph disease type 3	11.3
34	machado-joseph disease type 2	11.3
35	spinocerebellar atrophy	11.3
36	ataxia and polyneuropathy, adult-onset	11.3
37	ataxias and cerebellar or spinocerebellar degeneration	11.2
38	mohr-tranebjaerg syndrome	11.2
39	spinocerebellar atrophy with pupillary paralysis	11.0
40	brachydactylous dwarfism mseleni type	10.9
41	dystonia 11, myoclonic	10.9
42	spinocerebellar ataxia 18	10.9
43	neuropathy	10.8
44	kearns-sayre syndrome	10.7
45	pathologic nystagmus	10.7
46	peripheral nervous system disease	10.7
47	spasticity	10.7
48	chronic progressive external ophthalmoplegia	10.5
49	polyneuropathy	10.5
50	autonomic dysfunction	10.5

Graphical network of the top 20 diseases related to Machado-Joseph Disease:

Sources

Symptoms & Phenotypes for Machado-Joseph Disease

Human phenotypes related to Machado-Joseph Disease:

⁵⁸ ³¹ (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hyperreflexia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001347
2	abnormal pyramidal sign ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007256
3	nystagmus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000639
4	diplopia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000651
5	dysarthria ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0001260
6	delayed speech and language development ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000750
7	skeletal muscle atrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003202
8	progressive external ophthalmoplegia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000590
9	proptosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000520
10	abnormality of extrapyramidal motor function ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002071
11	dystonia ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0001332
12	clumsiness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002312
13	progressive cerebellar ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002073
14	abnormality of temperature regulation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004370
15	vocal cord paralysis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001605
16	vestibular dysfunction ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001751
17	abnormal autonomic nervous system physiology ³¹	occasional (7.5%)		HP:0012332
18	spasticity ³¹	very rare (1%)		HP:0001257
19	ataxia ³¹	very rare (1%)		HP:0001251
20	fasciculations ³¹	very rare (1%)		HP:0002380
21	external ophthalmoplegia ³¹	very rare (1%)		HP:0000544
22	parkinsonism ³¹	very rare (1%)		HP:0001300
23	gaze-evoked nystagmus ³¹	very rare (1%)		HP:0000640
24	ptosis ³¹			HP:0000508
25	dysphagia ³¹			HP:0002015
26	impaired vibratory sensation ³¹			HP:0002495
27	babinski sign ³¹			HP:0003487
28	cerebellar atrophy ³¹			HP:0001272
29	rigidity ³¹			HP:0002063
30	dementia ³¹			HP:0000726
31	muscle spasm ³¹			HP:0003394
32	distal amyotrophy ³¹			HP:0003693
33	spinocerebellar tract degeneration ³¹			HP:0002503
34	postural instability ³¹			HP:0002172
35	limb ataxia ³¹			HP:0002070
36	urinary bladder sphincter dysfunction ³¹			HP:0002839
37	truncal ataxia ³¹			HP:0002078
38	bradykinesia ³¹			HP:0002067
39	absent achilles reflex ³¹			HP:0003438
40	supranuclear ophthalmoplegia ³¹			HP:0000623
41	gliosis ³¹			HP:0002171
42	chronic pain ³¹			HP:0012532
43	dilated fourth ventricle ³¹			HP:0002198
44	dysmetric saccades ³¹			HP:0000641
45	impaired horizontal smooth pursuit ³¹			HP:0001151
46	facial-lingual fasciculations ³¹			HP:0007089
47	abnormal electrooculogram ³¹			HP:0030454

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
spasticity
dysarthria
rigidity
spinocerebellar tract degeneration
postural instability
more

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
fasciculations
muscle cramps

Head And Neck Eyes:
diplopia
external ophthalmoplegia
supranuclear ophthalmoplegia
gaze-evoked nystagmus
dysmetric saccades
more

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased vibration sense
impaired thermal sense
decreased or absent ankle reflexes
distal muscular atrophy

Genitourinary Bladder:
sphincter disturbances

Clinical features from OMIM®:

109150 (Updated 05-Mar-2021)

UMLS symptoms related to Machado-Joseph Disease:

ataxia, abnormality of extrapyramidal motor function, bradykinesia, chronic pain, muscular fasciculation, muscle cramp, muscle rigidity, muscle spasticity, cerebellar ataxia, ataxia, truncal, abnormal pyramidal signs

MGI Mouse Phenotypes related to Machado-Joseph Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.35	ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BECN1
2	growth/size/body region	MP:0005378	10.25	ATN1 ATXN1 ATXN2 ATXN7 BECN1 CACNA1A
3	homeostasis/metabolism	MP:0005376	10.25	ATN1 ATXN1 ATXN2 ATXN3 BECN1 CACNA1A
4	mortality/aging	MP:0010768	10.18	ATN1 ATXN1 ATXN2 ATXN7 BECN1 CACNA1A
5	nervous system	MP:0003631	10.17	ATN1 ATXN1 ATXN2 ATXN3 ATXN7 BECN1
6	cardiovascular system	MP:0005385	10.16	ATN1 BECN1 HSPB1 HTR1A HTT PRKN
7	no phenotypic analysis	MP:0003012	9.91	ATN1 CACNA1A HSPB1 HTR1A HTT PRKN
8	normal	MP:0002873	9.76	ATN1 BECN1 CACNA1A HSPB1 HTT PRKN
9	reproductive system	MP:0005389	9.61	ATN1 ATXN2 ATXN7 BECN1 CACNA1A HTT
10	skeleton	MP:0005390	9.28	ATXN1 ATXN7 BECN1 HTT PRKN SLC6A3

Sources

Drugs & Therapeutics for Machado-Joseph Disease

Drugs for Machado-Joseph Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lithium carbonate

Approved

Phase 2, Phase 3

554-13-2

Glutamic acid

Approved, Nutraceutical

Phase 3

56-86-0

33032

Synonyms:

(+)-Estrone

(1S)-2-[(3-O-b-D-Glucopyranosyl-b-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoate

(1S)-2-[(3-O-b-D-Glucopyranosyl-b-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoic acid

(1S)-2-[(3-O-beta-D-Glucopyranosyl-beta-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoic acid

(1S)-2-[(3-O-Β-D-glucopyranosyl-β-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoate

(1S)-2-[(3-O-Β-D-glucopyranosyl-β-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoic acid

(2R)-2,3-Dihydroxypropanoic acid

(2S)-2-Aminopentanedioate

(2S)-2-Aminopentanedioic acid

(3R,4S,5R)-5-[(1R)-1-Carboxy-2,2-difluoro-1-(phosphonooxy)ethoxy]-4-hydroxy-3-(phosphonooxy)cyclohex-1-ene-1-carboxylate

(R)-2,3-Dihydroxypropanoic acid

(R)-Glycerate

(R)-Glyceric acid

(S)-(+)-Glutamate

(S)-(+)-Glutamic acid

(S)-2-Aminopentanedioate

(S)-2-Aminopentanedioic acid

(S)-Glutamate

(S)-Glutamic acid

09581_FLUKA

1,3,5(10)-Estratrien-3-ol-17-one

10549-13-0

138-15-8 (unspecified hydrochloride)

138-16-9

16690-92-9 (di-hydrochloride salt)

19238-49-4 (unspecified calcium salt)

19473-49-5 (mono-potassium salt)

1-Amino-2-hydroxyethane

1-Aminopropane-1,3-dicarboxylate

1-Amino-propane-1,3-dicarboxylate

1-Aminopropane-1,3-dicarboxylic acid

1-Amino-propane-1,3-dicarboxylic acid

1ftj

1ii5

1xff

2 Acetamido 2 deoxy D glucose

2 Acetamido 2 deoxyglucose

2 Aminoethanol

24595-14-0 (unspecified potassium salt)

24938-00-9

25513-46-6

26717-13-5

27322E29-9696-49C1-B541-86BEF72DE2F3

2-Acetamido-2-deoxy-D-glucose

2-Acetamido-2-deoxyglucose

2-Amino-1-ethanol

2-Aminoethan-1-ol

2-Aminoethanol

2-Amino-ethanol

2-Aminoethyl alcohol

2-Aminoglutarate

2-Aminoglutaric acid

2-Aminopentanedioate

2-aminopentanedioic acid

2-Aminopentanedioic acid

2-Ethanolamine

2-Hydroxyethanamine

2-Hydroxyethylamine

3a,7a,12a-Trihydroxy-5b-cholan-24-oylglycine

3alpha,7alpha,12alpha-Trihydroxy-5beta-cholan-24-oylglycine

3alpha,7alpha,12alpha-Trihydroxy-5beta-cholanic acid-24-glycine

3alpha,7alpha,12alpha-Trihydroxy-N-(carboxymethyl)-5beta-cholan-24-amide

3-Hydroxy-1,3,5(10)-estratrien-17-one

3-Hydroxy-17-keto-estra-1,3,5-triene

3-Hydroxyestra-1,3,5(10)-trien-17-one

3-Hydroxyestra-1,3,5(10)-triene-17-one

3-Hydroxyoestra-1,3,5(10)-trien-17-one

3Α,7α,12α-trihydroxy-5β-cholan-24-oylglycine

3Α,7α,12α-trihydroxy-5β-cholanic acid-24-glycine

3Α,7α,12α-trihydroxy-N-(carboxymethyl)-5β-cholan-24-amide

49449_FLUKA

49449_SIGMA

55695-80-2 (mono-lithium salt)

56-86-0

6899-05-4

7558-63-6 (mono-ammonium salt)

84960-48-5

a,b-Hydroxypropionate

a,b-Hydroxypropionic acid

a-Aminoglutarate

a-Aminoglutaric acid

AB1002631

AC-11294

AC1L1OVN

AC1Q28OF

AC1Q4U8B

AC1Q4U8C

Acetylglucosamine

Acide glutamique

Acide glutamique [INN-French]

Acido glutamico

ácido glutámico

Acido glutamico [INN-Spanish]

Acidum glutamicum

Acidum glutamicum [INN-Latin]

Acidum glutaminicum

Aciglut

Aethanolamin

a-Glutamate

a-Glutamic acid

AI3-18472

alpha,beta-Hydroxypropionate

alpha,beta-Hydroxypropionic acid

alpha-Aminoglutarate

alpha-aminoglutaric acid

alpha-Aminoglutaric acid

alpha-Aminoglutaric acid (VAN)

alpha-Glutamate

alpha-Glutamic acid

alpha-L-Glutamic acid polymer

Aluminum L glutamate

Aluminum L-glutamate

AmbotzHAA1087

Aminoethanol

Aminoglutarate

Aminoglutaric acid

b-Aminoethanol

b-Aminoethyl alcohol

beta-Aminoethanol

beta-Aminoethyl alcohol

beta-Ethanolamine

beta-Hydroxyethylamine

b-Ethanolamine

b-Hydroxyethylamine

Biomol-NT_000170

BPBio1_001132

C00025

CCRIS 7314

CHEBI:16015

CHEMBL575060

Cholylglycine

CID33032

Colamine

D Glutamate

D00007

D1,3,5(10)-Estratrien-3-ol-17-one

D-2,3-Dihydroxypropanoic acid

DB00142

DB02517

D-GlcNAc

D-Glutamate

D-Glutamiensuur

D-Glycerate

D-Glyceric acid

D-GroA

E 620

EINECS 200-293-7

Envision conditioner PDD 9020

EPA Pesticide Chemical Code 374350

Estrone, (+-)-isomer

Estrone, (8 alpha)-isomer

Estrone, (9 beta)-isomer

Estrovarin

ETA

Ethylolamine

FEMA No. 3285

Follicular hormone

Folliculin

FT-0085107

G0059

G1251_SIGMA

G5667_SIGMA

G8415_SIGMA

Glt

glu

Glu

Glusate

glut

Glut

glutacid

Glutacid

glutamate

Glutamate

Glutamate, potassium

Glutamic acid

GLUTAMIC ACID

Glutamic acid (H-3)

Glutamic Acid (L-glutamic acid)

Glutamic acid (VAN)

Glutamic Acid [USAN:INN]

Glutamic acid polymer

Glutamic acid, (D)-isomer

Glutamic acid, L- (7CI,8CI)

Glutamic acid, L-, peptides

Glutamicol

Glutamidex

Glutaminate

glutaminic acid

Glutaminic acid

Glutaminic acid (VAN)

Glutaminol

Glutaton

Glycerate

Glycine cholate

Glycinol

Glycocholate

Glycocholate sodium

Glycocholic acid, sodium salt

Glycoreductodehydrocholic acid

Glycylcholate

Glycylcholic acid

Gulutamine

Gulutamine (USP)

Hauck brand OF estrone

Hea

H-Glu-OH

H-Glycinol

HSCI1_000269

Hyrex brand OF estrone

Kestrone

L Glutamate

L Glutamic acid

L-(+)-Glutamate

L-(+)-glutamic acid

L-(+)-Glutamic acid

L-2-Aminoglutaric acid

L-a-Aminoglutarate

L-a-Aminoglutaric acid

L-alpha-Aminoglutarate

L-alpha-Aminoglutaric acid

L-glu

L-Glu

L-glutamate

L-Glutamate

L-Glutamate, aluminum

L-glutamic acid

L-Glutamic acid

L-Glutamic acid (9CI)

L-Glutamic acid (JAN)

L-Glutamic acid hydrochloride

L-Glutamic acid, homopolymer

L-Glutamic acid, homopolymer (9CI)

L-Glutaminate

L-Glutaminic acid

L-Glutaminsaeure

Lopac0_000529

LS-2330

LS-71885

MEA

MolPort-001-770-254

Monoaethanolamin

MONOETHANOLAMINE

N Acetyl D glucosamine

N-(Carboxymethyl)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-amide

N-(Carboxymethyl)-3α,7α,12α-trihydroxy-5β-cholan-24-amide

N-[(3a,5b,7a,12a)-3,7,12-Trihydroxy-24-oxocholan-24-yl]glycine

N-[(3alpha,5beta,7alpha,12alpha)-3,7,12-Trihydroxy-24-oxocholan-24-yl]glycine

N-[(3Α,5β,7α,12α)-3,7,12-trihydroxy-24-oxocholan-24-yl]glycine

N-Acetylchitosamine

N-Acetyl-D-glucosamine

NCGC00024502-01

NCGC00024502-02

NCGC00024502-03

NCGC00024502-04

nchembio.186-comp9

nchembio.198-comp6

nchembio.2007.55-comp22

nchembio.266-comp23

nchembio.586-comp22

nchembio816-comp2

N-Choloylglycine

N-Choloyl-glycine

NSC 143503

Oestrone

Olamine

PDSP1_000128

PDSP1_001539

PDSP2_000127

PDSP2_001523

Poly(alpha-L-glutamic acid)

POLYGLUTAMIC ACID

Poly-L-glutamate

Potassium glutamate

R-Glycerate

R-Glyceric acid

Sodium Glutamate (L-glutamic Acid)

Tocris-0218

Unigen

UNII-3KX376GY7L

Vortech brand OF estrone

W328502_ALDRICH

Wehgen

Α,β-hydroxypropionate

Α,β-hydroxypropionic acid

Β-aminoethanol

Β-aminoethyl alcohol

Β-ethanolamine

Β-hydroxyethylamine

Psychotropic Drugs

Phase 2, Phase 3

Antidepressive Agents

Phase 2, Phase 3

Varenicline

Approved, Investigational

Phase 2

249296-44-4

5310966

Synonyms:

249296-44-4

6,7,8,9-Tetrahydro-6,10-methano-6H-pyrazino(2,3-H)benzazepine

7,8,9,10-Tetrahydro-6,10-methano-6H-pyrazino(2,3-h)(3)benzazepine

7,8,9,10-Tetrahydro-6,10-methano-6H-pyrazino(2,3-H)(3)benzazepine

7,8,9,10-tetrahydro-6h-6,10-methanoazepino[4,5-g]quinoxaline

AC1L55H0

AC1Q4W6H

AKOS005145561

AR-1H2911

Champix

Chantix

CHEBI:430452

CHEMBL1396

CID170361

CP 526555

CP-526,555

D08669

HSDB 7591

I14-1963

LS-187375

Tartrate, varenicline

UNII-W6HS99O8ZO

Vareniclina

varenicline

Varenicline

Varenicline (INN)

Varenicline tartrate

Vareniclinum

Menthol

Approved

Phase 2

2216-51-5

16666

Synonyms:

(&#8722

(−)-(1R,3R,4S)-menthol

(-)-(1R,3R,4S)-Menthol

(-)-menthol

(−)-menthol

()-Menthol

(-)-Menthol

(-)-Menthyl alcohol

(-)-p-Menthan-3-ol

(-)-trans-p-Menthan-cis-ol

(+-)-(1R*,3R*,4S*)-Menthol

(+-)-Menthol

(+)-Neo-menthol

(+)-p-Menthan-3-ol

(+/-)-Menthol

(+/-)-p-Menthan-3-ol

(1a,2b,5a)-5-Methyl-2(1-methylethyl)cyclohexanol

(1alpha,2beta,5alpha)-5-methyl-2(1-methylethyl)cyclohexanol

(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol

(1R-(1-a,2-b,5-a))-5-Methyl-2-(1-methylethyl)cyclohexanol

(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol

(1R-(1-α,2-β,5-α))-5-methyl-2-(1-methylethyl)cyclohexanol

(1R-(1-Α,2-β,5-α))-5-methyl-2-(1-methylethyl)cyclohexanol

(1R)-(-)-Menthol

(1r,2s,5r)-(-)-menthol

(1R,2S,5R)-(-)-Menthol

(1R,2S,5R)-Menthol

(1R,3R,4S)-(−)-menthol

(1R,3R,4S)-(-)-Menthol

(1R,3R,4S)-(-)-MENTHOL

(1S, 2S, 5R)-(+)-Neomenthol

(1S,2R,5R)-(+)-Isomenthol

(1S,2R,5S)-(+)-Menthol

(1S,2R,5S)-Menthol

(1Α,2β,5α)-5-methyl-2(1-methylethyl)cyclohexanol

(L)-MENTHOL

(R)-(-)-Menthol

)-Menthol

1490-04-6

15356-60-2

15356-70-4

15785_RIEDEL

15785_SIAL

19863P

1-Menthol

20747-49-3

2216-51-5

2-Isopropyl-5-methylcyclohexanol

3-p-Menthol

491-02-1

4-Isopropyl-1-methylcyclohexan-3-ol

551376_ALDRICH

551376_FLUKA

588733_ALDRICH

5-Methyl-2-(1-methylethyl)cyclohexanol

5-Methyl-2-(1-methylethyl)-cyclohexanol

5-methyl-2-(propan-2-yl)cyclohexanol

5-methyl-2-propan-2-ylcyclohexan-1-ol

5-Methyl-2-propan-2-ylcyclohexan-1-ol

613290_ALDRICH

613290_FLUKA

63660_FLUKA

63670_ALDRICH

63670_FLUKA

63975-60-0

6C6A4A8C-A054-468C-A1F0-F29E39838CF2

89-78-1

98167-53-4

AC1L1B2E

AC1L28FR

AC1Q1NQ2

AC1Q2QQM

AI3-08161

AI3-52408

AKOS000119740

AR-1J3337

BB_NC-0057

BRN 1902288

BRN 3194263

BSPBio_003062

C00400

C10H20O

Caswell No. 540

CCRIS 3728

CCRIS 375

CCRIS 4666

CCRIS 9231

CHEBI:15409

CHEBI:545611

CHEMBL256087

CHEMBL470670

CID1254

CID16666

cis-1 ,3-trans-1,4-(+-)-menthol

cis-1,3-trans-1,4-(+-)-menthol

D-(-)-Menthol

d,l-Menthol

D00064

D008610

D04849

D04918

DB00825

DivK1c_000820

dl-3-p-Menthanol

dl-Menthol

dl-Menthol (JP15)

d-Menthol

d-Neomenthol

D-p-Menthan-3-ol

EINECS 201-939-0

EINECS 207-724-8

EINECS 216-074-4

EINECS 218-690-9

EINECS 239-387-8

EINECS 239-388-3

EPA Pesticide Chemical Code 051601

FEMA No. 2665

Fisherman's friend lozenges

Fisherman's friend lozenges (TN)

Headache crystals

Hexahydrothymol

HMS1922G13

HMS2092L14

HMS502I22

HSDB 5662

HSDB 593

I06-1216

I14-7371

IDI1_000820

KBio1_000820

KBio2_000785

KBio2_003353

KBio2_005921

KBio3_002562

KBioSS_000785

Kerasal

l-(-)-Menthol

L-(-)-Menthol

Levomenthol

Lévomenthol

Levomenthol [INN:BAN]

Levomentholum

Levomentholum [INN-Latin]

Levomentol

l-Menthol

L-menthol

L-Menthol

l-Menthol (JP15)

l-Menthol (natural)

l-Menthol (TN)

LMPR0102090001

LS-2353

LS-57201

LS-886

LS-89531

LS-89533

M0321

M0545

M2772_SIAL

Menthacamphor

Menthol

MENTHOL

--MENTHOL

Menthol (USP)

Menthol (VAN)

Menthol natural

Menthol natural, brazilian

Menthol racemic

Menthol racemique

Menthol racemique [French]

Menthol solution

Menthol, (1alpha,2beta,5alpha)-isomer

Menthol, (1alpha,2beta,5alpha)-Isomer

Menthomenthol

Menthyl alcohol

Mentol

MLS002207256

MolPort-000-849-729

MolPort-001-793-392

NCGC00159382-02

NCGC00159382-03

NCGC00164247-01

NCGC00164247-02

nchembio862-comp1

NCI-C50000

Neoisomenthol

NINDS_000820

NOOLISFMXDJSKH-KXUCPTDWBX

NSC 2603

NSC 62788

NSC2603

NSC62788

Peppermint camphor

p-Menthan-3-ol

Racementhol

Racementhol [INN:BAN]

Racementholum

Racementholum [INN-Latin]

Racementol

Racementol [INN-Spanish]

Racemic menthol

RACEMIC MENTHOL U.S.P.

rac-Menthol

Robitussin Cough Drops

SDCCGMLS-0066659.P001

SMR001306785

SPBio_000869

Spectrum_000305

SPECTRUM1503134

Spectrum2_000855

Spectrum3_001561

Spectrum5_001060

STK802468

Tra-kill tracheal mite killer

U.S.p. menthol

U.S.P. Menthol

UNII-BZ1R15MTK7

UNII-L7T10EIP3A

UNII-YS08XHA860

W266507_ALDRICH

W266523_ALDRICH

W266590_ALDRICH

WLN: L6TJ AY1&1 BQ D1

WLN: L6TJ AY1&1 DQ D1 -L

ZINC01482164

Nicotinic Agonists

Phase 2

Neurotransmitter Agents

Phase 2

Cholinergic Agents

Phase 2

4-Aminopyridine

Approved

504-24-5

1727

Synonyms:

.gamma.-Aminopyridine

[J.Pharmacol.Exp.Ther. 275:864 (1995)]

275875_ALDRICH

36687_FLUKA

36687_RIEDEL

4 Aminopyridine

4 Aminopyridine Sustained Release

4 AP

4-aminopyridine

4-Aminopyridine

4-Aminopyridine 10

4-Aminopyridine Sustained Release

4-AP

4-Pyridinamine

4-Pyridylamine

504-24-5

5-22-09-00106 (Beilstein Handbook Reference)

A 0152

A0414

A78403_ALDRICH

AB1004971

AC1L1C3R

AC1Q52BM

AC-907/25014071

AI3-52547

AKOS000119896

Amaya

Amino-4 pyridine

Amino-4-Pyridine

Ampydin

Ampyra

Avitrol

Avitrol 200

BB_SC-6974

Bio1_000353

Bio1_000842

Bio1_001331

Bio2_000282

Bio2_000762

BRN 0105782

BSPBio_001562

C13728

C5H6N2

Caswell No. 038

CHEBI:34385

CHEMBL284348

CID1727

Compound 1861

D015761

D04127

Dalfampridine

DivK1c_000572

EINECS 207-987-9

EL-970

EPA Pesticide Chemical Code 069201

EU-0100032

Fampridina

Fampridine

Fampridine (USAN/INN)

Fampridine [USAN:INN]

Fampridine SR

Fampridine-PR

Fampridine-SR

Fampridinum

FT-0083754

gamma-Aminopyridine

HC150041

HMS1361O04

HMS1791O04

HMS1921H15

HMS1989O04

HMS2092F05

HMS501M14

HSDB 6037

IDI1_000572

IDI1_034032

InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7

KBio1_000572

KBio2_000282

KBio2_000635

KBio2_002850

KBio2_003203

KBio2_005418

KBio2_005771

KBio3_000563

KBio3_000564

KBio3_001888

KBioGR_000282

KBioGR_001505

KBioSS_000282

KBioSS_000635

Lopac0_000032

Lopac-A-0152

LS-130202

Mi-W-3

MLS000069400

MolPort-000-146-022

NCGC00015009-01

NCGC00015009-03

NCGC00015009-12

NCGC00024890-01

NCGC00024890-02

NCGC00024890-03

NCGC00024890-04

NCGC00024890-05

NCGC00024890-06

NCGC00024890-07

NCGC00024890-08

NCGC00024890-09

NCGC00024890-10

nchem.892-comp4

Neurelan

Neurelan (TN)

NINDS_000572

NSC 15041

NSC15041

p-Aminopyridine

p-Aminopyridine [UN2671] [Poison]

Philips 1861

Phillips 1861

Pimadin (free base)

Prc 1237

Pymadin

Pymadine

pyridin-4-amine

pyridin-4-ylamine

PYRIDINE,4-AMINO

RCRA waste no. P008

SDCCGMLS-0066228.P001

SMR000058211

SPBio_001486

Spectrum_000155

SPECTRUM1501130

Spectrum2_001413

Spectrum3_000914

Spectrum4_001013

Spectrum5_001501

STK298717

Sustained Release, 4-Aminopyridine

TL8003344

Tocris-0940

UNII-BH3B64OKL9

UPCMLD-DP125

UPCMLD-DP125:001

VMI 103

VMI 10-3

VMI103

VMI-103

VMI-10-3

WLN: T6NJ DZ

γ-Aminopyridine

Potassium Channel Blockers

Interventional clinical trials:

(show all 27)

#	Name	Status	NCT ID	Phase	Drugs
1	Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3	Completed	NCT01096082	Phase 2, Phase 3	Lithium Carbonate;Placebo
2	An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia	Active, not recruiting	NCT03408080	Phase 3	BHV-4157
3	A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia.	Active, not recruiting	NCT03701399	Phase 3	troriluzole;Placebos
4	The Influence of Deep Repetitive Transcranial Magnetic Stimulation (TMS) on Cerebellar Signs in Patients With Spinocerebellar Ataxia Type 3 (SCA3 - Machado Joseph Disease)	Completed	NCT02039206	Phase 2
5	A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3	Completed	NCT00992771	Phase 2	varenicline;placebo
6	A Single-Center, Randomized, Double-Blind, Parallel-Group, Dose-Controlled Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Patients With Machado-Joseph Disease	Completed	NCT02147886	Phase 2	Cabaletta for IV infusion once weekly during 24 weeks;Cabaletta for IV infusion once weekly during 24 weeks
7	A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia	Not yet recruiting	NCT03378414	Phase 2
8	Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1)	Suspended	NCT04301284	Phase 2	CAD-1883;Placebos
9	Phenylbutyrate in SCA3: a Double-blind, Placebo-controlled Study to Determine Safety and Efficacy of Sodium Phenylbutyrate in Patients With SCA3	Withdrawn	NCT01096095	Phase 2	Placebo;Sodium Phenylbutyrate
10	Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation	Unknown status	NCT02175290
11	Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7)	Unknown status	NCT01037777
12	Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study	Completed	NCT04426149
13	Weight in Lower Limbs Improves Gait Ataxia Of in Machado-Joseph Disease Patients: A Randomized Crossover Trial	Completed	NCT02906046
14	Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial	Completed	NCT01811706		Dalfampridine;Placebo
15	Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia	Completed	NCT03120013
16	The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria	Completed	NCT01983670
17	Clinical Trial Readiness for SCA1 and SCA3	Recruiting	NCT03487367
18	A Randomised Controlled Trial on the Clinical Efficacy of Oral Trehalose in Patients With Spinocerebellar Ataxia 3: Clinical & FMRI Correlation	Recruiting	NCT04399265
19	Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)	Recruiting	NCT04714307
20	Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)	Recruiting	NCT01060371
21	Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
22	APDM Instrumented Data Exchange for Ataxia (IDEA) Study	Recruiting	NCT04268147
23	Identification of Biomarkers in Spinocerebellar Ataxia 3	Active, not recruiting	NCT03885167
24	Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (SCA3/MJD)	Active, not recruiting	NCT04229823
25	Biomarkers and Genetic Modifiers in a Study of Pre-ataxic and Ataxic SCA3/MJD Carriers (BIGPRO Study) - Astrocytes	Active, not recruiting	NCT04419974
26	Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase	Active, not recruiting	NCT04153110
27	The Effect of Functional Trunk Training on Trunk Control and Upper Extremity Functions in Hereditary Ataxia Patients With Autosomal Recessive	Active, not recruiting	NCT04740359

Search NIH Clinical Center for Machado-Joseph Disease

Cochrane evidence based reviews: machado-joseph disease

Sources

Genetic Tests for Machado-Joseph Disease

Genetic tests related to Machado-Joseph Disease:

#	Genetic test	Affiliating Genes
1	Azorean Disease ²⁹	ATXN3

Sources

Anatomical Context for Machado-Joseph Disease

MalaCards organs/tissues related to Machado-Joseph Disease:

⁴⁰

Eye, Tongue, Cerebellum, Spinal Cord, Brain, Skeletal Muscle, Cortex

Sources

Publications for Machado-Joseph Disease

Articles related to Machado-Joseph Disease:

(show top 50) (show all 1511)

#	Title	Authors	PMID	Year
1	CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. ⁶ ⁵⁷ ²⁵ ⁶¹	Kawaguchi Y...Akiguchi I	7874163	1994
2	Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. ⁵⁷ ²⁵ ⁶¹ ⁵⁴	Durr A...Brice A	8619527	1996
3	Chronic pain in Machado-Joseph disease: a frequent and disabling symptom. ²⁵ ⁵⁷ ⁶¹	Franca MC...Lopes-Cendes I	18071041	2007
4	Survival estimates for patients with Machado-Joseph disease (SCA3). ⁶¹ ⁵⁷ ²⁵	Kieling C...Jardim LB	17894834	2007
5	Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. ²⁵ ⁵⁷ ⁶¹	van de Warrenburg BP...Kremer BP	15747371	2005
6	Autonomic dysfunction in Machado-Joseph disease. ⁵⁷ ⁶¹ ²⁵	Yeh TH...Chen RS	15824264	2005
7	Cognitive impairments in Machado-Joseph disease. ⁶¹ ²⁵ ⁵⁷	Kawai Y...Sobue G	15534186	2004
8	Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations. ⁶¹ ⁵⁷ ²⁵	Verbeek DS...Sinke RJ	15026782	2004
9	Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. ²⁵ ⁵⁷ ⁶¹	van Alfen N...Horstink MW	11409435	2001
10	Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. ²⁵ ⁶¹ ⁵⁷	Gaspar C...Rouleau GA	11133357	2001
11	Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. ⁵⁷ ⁶¹ ²⁵	Burk K...Klockgether T	8931575	1996
12	Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. ⁶¹ ⁵⁷ ²⁵	Cancel G...Agid Y	7573040	1995
13	Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family. ²⁵ ⁶¹ ⁵⁷	Lima L...Coutinho P	7189034	1980
14	Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3? ⁶¹ ⁵⁷ ⁵⁴	Alves S...de Almeida LP	20308049	2010
15	Proteotoxic stress increases nuclear localization of ataxin-3. ⁵⁷ ⁵⁴ ⁶¹	Reina CP...Pittman RN	19843543	2010
16	Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. ⁵⁴ ⁶¹ ⁵⁷	Boy J...Riess O	19666958	2009
17	Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). ⁵⁷ ⁵⁴ ⁶¹	Bettencourt C...Lima M	18286225	2008
18	Dementia and delirium in 4 patients with Machado-Joseph disease. ⁵⁷ ⁶¹ ⁵⁴	Ishikawa A...Tsuji S	12433269	2002
19	Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. ⁶¹ ⁵⁴ ⁵⁷	Silveira I...Sequeiros J	11939898	2002
20	High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells. ⁵⁷ ⁵⁴ ⁶¹	Evert BO...Klockgether T	10369861	1999
21	Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families. ⁵⁷ ⁵⁴ ⁶¹	Ramesar RS...Bryer A	9225982	1997
22	Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats. ⁵⁷ ⁶¹ ⁵⁴	Rubinsztein DC...Leggo J	9132496	1997
23	Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. ⁵⁴ ⁵⁷ ⁶¹	Takiyama Y...Saito M	8528200	1995
24	CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3. ⁵⁷ ⁶¹	Leotti VB...Verbeek DS	32978817	2021
25	Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. ⁵⁷ ⁶¹	Teixeira-Castro A...Maciel P	26373603	2015
26	Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report. ⁵⁷ ⁶¹	Zeng S...Wang J	25566755	2015
27	Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. ⁶¹ ⁵⁷	Koch P...Brustle O	22113611	2011
28	Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history? ⁶¹ ⁵⁷	Sura T...Tunlayadechanont S	19329990	2009
29	Motor nerve hyperexcitability and muscle cramps in Machado-Joseph disease. ⁵⁷ ⁶¹	Kanai K...Kuwabara S	19139316	2009
30	Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease. ⁵⁷ ⁶¹	Alves S...de Almeida LP	18385100	2008
31	Muscle excitability abnormalities in Machado-Joseph disease. ⁵⁷ ⁶¹	Franca MC...Lopes-Cendes I	18413477	2008
32	Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population. ⁶¹ ⁵⁷	Prestes PR...Jardim LB	17683516	2008
33	Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. ⁶¹ ⁵⁷	Basri R...Sasaki H	17805477	2007
34	Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3. ⁶¹ ⁵⁷	Haacke A...Breuer P	16407371	2006
35	Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts. ⁶¹ ⁵⁷	Toulouse A...Rouleau GA	16087686	2005
36	Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies. ⁵⁷ ⁶¹	Mittal U...Mukerji M	15824265	2005
37	Was the ataxia of Pierre Marie Machado-Joseph disease?: A reappraisal based on the last autopsy case from la Salpêtrière Hospital. ⁶¹ ⁵⁷	Uchihara T...Hauw JJ	15148161	2004
38	Peripheral nerve involvement in spinocerebellar ataxias. ⁶¹ ⁵⁷	van de Warrenburg BP...Kremer BP	14967775	2004
39	Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. ⁵⁷ ⁶¹	Shimizu Y...Ikeda SI	15480876	2004
40	Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. ⁶¹ ⁵⁷	Lee WY...Lee KH	12810491	2003
41	Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. ⁶¹ ⁵⁷	van de Warrenburg BP...Kremer HP	11889231	2002
42	Improvement in the molecular diagnosis of Machado-Joseph disease. ⁶¹ ⁵⁷	Maciel P...Sequeiros J	11708990	2001
43	Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. ⁵⁷ ⁶¹	Gwinn-Hardy K...Farrer M	11176969	2001
44	Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. ⁶¹ ⁵⁷	Storey E...Nicholson GA	11186889	2000
45	CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation. ⁶¹ ⁵⁷	Gaspar C...Rouleau GA	10942424	2000
46	Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix. ⁶¹ ⁵⁷	Perez MK...Pittman RN	10556285	1999
47	French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis. ⁶¹ ⁵⁷	Grewal RP...Arnheim N	10441343	1999
48	Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. ⁵⁷ ⁶¹	Burk K...Klockgether T	10525976	1999
49	Machado-Joseph disease presenting as severe generalised dystonia in a German patient. ⁵⁷ ⁶¹	Munchau A...Zuhlke C	10525985	1999
50	Cluster of Machado-Joseph disease in a small rural town near Nagasaki City, Japan: clinical and genetic studies of two families. ⁵⁷ ⁶¹	Seto M...Tsujihata M	10399876	1999

Sources

Genes for Machado-Joseph Disease

Genes related to Machado-Joseph Disease (2 elite genes):

(show top 50) (show all 54)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATXN3	Ataxin 3	Protein Coding	651.91	Molecular basis known ⁵⁷ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Gene name Summaries (show sections)	10465503 11446399 8528200 (more) 8800925 9274833 9450899 9562258 10196697 11394998 14568127 14659761 14749733 15316156 14665709 17300980 17362987 18042234 20308049 8619527 8659514 19542537 17983597 17434145 16765348 15952105 12486728 11719271 10369861 9040742 12857950 12166658 11939898 11466410 9270607 20064935 18286225 18261802 17046388 10732811 20414249 19935829 20017304 19412185 17302910 11356158 10915768 10433966 19429074 16020535 12460614 12433269 10069576 9124801 19660550 19492089 19036964 17420317 17018300 15637221 14575237 12938149 16938865 16822850 16194547 15537899 10855623 10587580 9506544 19714377 20334689 18353661 17079677 16624810 14978262 11978767 10993685 16562673 16112867 17696782 18839019 19666958 19843543 8558567 9132496
2	LOC108663987	Ataxin 3 Repeat Instability Region	Biological Region	418.39	Pathogenic ⁶ GeneCards inferred via : Publications Summaries (show sections)
3	ATXN3L	Ataxin 3 Like	Protein Coding	34.47	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Summaries (show sections)
4	ATXN7	Ataxin 7	Protein Coding	25.69	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	19953482 9613852 17420317
5	ATXN2	Ataxin 2	Protein Coding	25.53	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9109985 9613852 17420317 (more) 9225982
6	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	24.67	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	12614315 9507387 19953482 (more) 9613852 17420317
7	VCP	Valosin Containing Protein	Protein Coding	22.28	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	12351637 20414249
8	ATXN1	Ataxin 1	Protein Coding	18.41	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	7952848 9109985 9613852 (more) 17420317 11356158 9225982 14767919
9	SNCA	Synuclein Alpha	Protein Coding	18.35	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	16973207 19492089
10	RPS27A	Ribosomal Protein S27a	Protein Coding	18.33	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15808507 7681618
11	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	16.71	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15895556 19429074
12	SLC6A3	Solute Carrier Family 6 Member 3	Protein Coding	16.52	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11850478 10855623
13	HTT	Huntingtin	Protein Coding	16.05	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	16973207 19492089 11356158 (more) 19412185
14	ATN1	Atrophin 1	Protein Coding	15.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	17420317
15	HTR1A	5-Hydroxytryptamine Receptor 1A	Protein Coding	14.87	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15090930
16	ATXN8OS	ATXN8 Opposite Strand LncRNA	RNA Gene	13.97	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	13.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	BECN1	Beclin 1	Protein Coding	13.82	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	TBP	TATA-Box Binding Protein	Protein Coding	13.78	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	17420317 11211058
20	USP2	Ubiquitin Specific Peptidase 2	Protein Coding	13.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	AR	Androgen Receptor	Protein Coding	13.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	TARDBP	TAR DNA Binding Protein	Protein Coding	12.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	SP1	Sp1 Transcription Factor	Protein Coding	12.79	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11211058
24	UBE2N	Ubiquitin Conjugating Enzyme E2 N	Protein Coding	12.73	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	SQSTM1	Sequestosome 1	Protein Coding	12.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	12.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	UBC	Ubiquitin C	Protein Coding	12.35	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	CAPN2	Calpain 2	Protein Coding	12.32	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	TP53	Tumor Protein P53	Protein Coding	12.22	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
30	UBE2V1	Ubiquitin Conjugating Enzyme E2 V1	Protein Coding	12.18	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
31	CAPN1	Calpain 1	Protein Coding	12.17	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
32	SLC1A3	Solute Carrier Family 1 Member 3	Protein Coding	12.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	APOE	Apolipoprotein E	Protein Coding	12.01	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
34	UBE2D2	Ubiquitin Conjugating Enzyme E2 D2	Protein Coding	11.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
35	UBE2L3	Ubiquitin Conjugating Enzyme E2 L3	Protein Coding	11.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
36	HSPB2	Heat Shock Protein Family B (Small) Member 2	Protein Coding	11.91	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
37	GABARAP	GABA Type A Receptor-Associated Protein	Protein Coding	11.77	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
38	UBE2G2	Ubiquitin Conjugating Enzyme E2 G2	Protein Coding	11.77	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
39	NPY	Neuropeptide Y	Protein Coding	11.16	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
40	ATG4B	Autophagy Related 4B Cysteine Peptidase	Protein Coding	11.16	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
41	ENO2	Enolase 2	Protein Coding	10.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
42	MAP1LC3A	Microtubule Associated Protein 1 Light Chain 3 Alpha	Protein Coding	10.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
43	S100B	S100 Calcium Binding Protein B	Protein Coding	10.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
44	MAP1LC3C	Microtubule Associated Protein 1 Light Chain 3 Gamma	Protein Coding	10.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
45	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	10.52	DISEASES inferred ¹⁵ ¹⁵
46	SIAH1	Siah E3 Ubiquitin Protein Ligase 1	Protein Coding	10.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
47	CREBBP	CREB Binding Protein	Protein Coding	10.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	15994095 16456924 10958659
48	CHERP	Calcium Homeostasis Endoplasmic Reticulum Protein	Protein Coding	10.07	Novoseek inferred ⁵⁴	9292723
49	H2AC18	H2A Clustered Histone 18	Protein Coding	9.45	DISEASES inferred ¹⁵ ¹⁵
50	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	8.48	DISEASES inferred ¹⁵

Sources

Variations for Machado-Joseph Disease

ClinVar genetic disease variations for Machado-Joseph Disease:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LOC108663987	NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	Microsatellite	Pathogenic	209995		14:92537382-92537384	14:92071038-92071040
2	LOC108663987	NM_004993.5(ATXN3):c.892CAG[(8_36)]	Microsatellite	Pathogenic	3551		14:92537355-92537357	14:92071011-92071013
3	LOC108663987	NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)	Microsatellite	Benign	931861		14:92537354-92537355	14:92071010-92071011
4	ATXN3	NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)	SNV	Benign	128515	rs12895357	14:92537354-92537354	14:92071010-92071010
5	LOC108663987	NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	Microsatellite	Benign	209994		14:92537382-92537384	14:92071038-92071040

Sources

Expression for Machado-Joseph Disease

Search GEO for disease gene expression data for Machado-Joseph Disease.

Sources

Pathways for Machado-Joseph Disease

Pathways related to Machado-Joseph Disease according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Spinocerebellar ataxia	hsa05017
2	Protein processing in endoplasmic reticulum	hsa04141

Pathways related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.59	VCP USP2 SNCA RPS27A PRKN BECN1
2	Pathways of neurodegeneration - multiple diseases ³⁶ Show member pathways Alzheimer disease ³⁶ Amyotrophic lateral sclerosis ³⁶ Huntington disease ³⁶	13.11	VCP TBP SNCA SLC6A3 RPS27A PRKN
3	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	12.64	VCP USP2 RPS27A PRKN BECN1 ATXN7
4	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.47	SNCA SLC6A3 PRKN HSPB1 ATXN7 ATXN3
5	Neuroscience ⁴	12.38	SNCA RPS27A PRKN HTT HTR1A ATXN1
6	Protein processing in endoplasmic reticulum ³⁶	11.99	VCP PRKN ATXN3L ATXN3
7	Regulation of degradation of deltaF508 CFTR in CF ²³ Show member pathways Regulation of degradation of wt-CFTR ²³	11.67	VCP HSPB1 ATXN3
8	Parkinsons Disease Pathway ¹	11.63	SNCA SLC6A3 PRKN ATXN2
9	Mitophagy - animal ³⁶	11.49	RPS27A PRKN BECN1
10	Spinocerebellar ataxia ³⁶	11.38	TBP CACNA1A BECN1 ATXN8OS ATXN3L ATXN3
11	Alpha-synuclein signaling ¹	11.11	SNCA SLC6A3 PRKN
12	Josephin domain DUBs ⁶⁵	10.43	VCP RPS27A PRKN ATXN3L ATXN3

Sources

GO Terms for Machado-Joseph Disease

Cellular components related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	10.21	VCP SNCA RPS27A PRKN HTT HSPB1
2	nucleus	GO:0005634	10.13	VCP USP2 TBP SNCA RPS27A PRKN
3	cytoplasm	GO:0005737	9.86	VCP USP2 TBP SNCA SLC6A3 RPS27A
4	synapse	GO:0045202	9.85	VCP SNCA PRKN HTR1A CACNA1A ATXN3
5	protein-containing complex	GO:0032991	9.8	VCP TBP SNCA PRKN HTT BECN1
6	nuclear matrix	GO:0016363	9.46	ATXN7 ATXN3 ATXN1 ATN1
7	nuclear inclusion body	GO:0042405	9.4	ATXN3 ATXN1
8	perinuclear region of cytoplasm	GO:0048471	9.17	VCP USP2 SNCA PRKN HTT ATXN2

Biological processes related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by RNA polymerase II	GO:0000122	9.97	USP2 SNCA RPS27A PRKN ATXN1 ATN1
2	ubiquitin-dependent protein catabolic process	GO:0006511	9.88	VCP USP2 PRKN ATXN3
3	chemical synaptic transmission	GO:0007268	9.81	SNCA HTR1A CACNA1A ATXN3
4	macroautophagy	GO:0016236	9.71	VCP PRKN BECN1
5	regulation of neurotransmitter secretion	GO:0046928	9.58	SNCA PRKN
6	dopamine metabolic process	GO:0042417	9.57	SNCA PRKN
7	ERAD pathway	GO:0036503	9.56	VCP PRKN
8	proteasomal protein catabolic process	GO:0010498	9.55	VCP PRKN
9	synaptic transmission, dopaminergic	GO:0001963	9.52	SNCA PRKN
10	exploration behavior	GO:0035640	9.48	HTR1A ATXN3
11	dopamine biosynthetic process	GO:0042416	9.46	SNCA SLC6A3
12	mitophagy	GO:0000423	9.43	PRKN BECN1
13	protein destabilization	GO:0031648	9.43	SNCA PRKN HTT
14	positive regulation of autophagy of mitochondrion	GO:1903599	9.4	PRKN HTT
15	aggresome assembly	GO:0070842	9.37	VCP PRKN
16	regulation of dopamine metabolic process	GO:0042053	9.33	SLC6A3 PRKN HTR1A
17	response to iron(II) ion	GO:0010040	9.32	SNCA BECN1
18	protein deubiquitination	GO:0016579	9.23	VCP USP2 RPS27A PRKN BECN1 ATXN7
19	dopamine uptake involved in synaptic transmission	GO:0051583	9.13	SNCA SLC6A3 PRKN

Molecular functions related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.61	VCP USP2 SNCA PRKN HTT HSPB1
2	thiol-dependent ubiquitin-specific protease activity	GO:0004843	9.43	USP2 ATXN3L ATXN3
3	phospholipase binding	GO:0043274	9.16	SNCA PRKN
4	ubiquitin protein ligase binding	GO:0031625	9.1	VCP USP2 RPS27A PRKN BECN1 ATXN3

Sources

Sources for Machado-Joseph Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Machado-Joseph Disease (MJD)

Aliases & Classifications for Machado-Joseph Disease

MalaCards integrated aliases for Machado-Joseph Disease:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Machado-Joseph Disease

Related Diseases for Machado-Joseph Disease

Diseases in the Machado-Joseph Disease family:

Diseases related to Machado-Joseph Disease via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Machado-Joseph Disease:

Symptoms & Phenotypes for Machado-Joseph Disease

Human phenotypes related to Machado-Joseph Disease:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Machado-Joseph Disease:

MGI Mouse Phenotypes related to Machado-Joseph Disease:

Drugs & Therapeutics for Machado-Joseph Disease

Drugs for Machado-Joseph Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: machado-joseph disease

Genetic Tests for Machado-Joseph Disease

Genetic tests related to Machado-Joseph Disease:

Anatomical Context for Machado-Joseph Disease

MalaCards organs/tissues related to Machado-Joseph Disease:

Publications for Machado-Joseph Disease

Articles related to Machado-Joseph Disease:

Genes for Machado-Joseph Disease

Genes related to Machado-Joseph Disease (2 elite genes):

Variations for Machado-Joseph Disease

ClinVar genetic disease variations for Machado-Joseph Disease:

Expression for Machado-Joseph Disease

Pathways for Machado-Joseph Disease

Pathways related to Machado-Joseph Disease according to KEGG:

Pathways related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

GO Terms for Machado-Joseph Disease

Cellular components related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

Biological processes related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

Molecular functions related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

Sources for Machado-Joseph Disease