MCID: AMY066
MIFTS: 42

Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:

Name: Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 49
Guam Disease 45 51 67
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 45 67
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 51 24
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex, Susceptibility to 11
Amyotrophic Lateral Sclerosis, Parkinsonism/dementia Complex of Guam 45
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex of Guam 67
 
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia of Guam 51
Amyotrophic Lateral Sclerosis, Guam Form 65
Parkinsonism-Dementia-Als Complex 51
Lytico-Bodig Disease 51
Als/pdc of Guam 67
Als-Pdc1 67
Pdals 51


Classifications:



External Ids:

OMIM49 105500
Orphanet51 90020
ICD10 via Orphanet28 G12.2
MedGen34 C0543859

Summaries for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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OMIM:49 Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodengenerative disorder with unusually... (105500) more...

MalaCards based summary: Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex, also known as guam disease, is related to lateral sclerosis and dementia, and has symptoms including dementia, bulbar palsy and parkinsonism. An important gene associated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex is TRPM7 (Transient Receptor Potential Cation Channel, Subfamily M, Member 7), and among its related pathways are Alpha-synuclein signaling and Pink/Parkin Mediated Mitophagy. Related mouse phenotypes are muscle and integument.

UniProtKB/Swiss-Prot:67 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1: A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism- dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual.

Related Diseases for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1lateral sclerosis10.9
2dementia10.9
3parkinson disease 7, autosomal recessive early-onset10.6
4tauopathy10.5
5rem sleep behavior disorder10.3
6carotid stenosis10.2MAPT, SNCA, TARDBP
7angelman syndrome due to a point mutation10.2LRRK2, SNCA
8dysphagia10.2PARK2, SNCA
9progressive transformation of germinal centers10.1C9orf72, MAPT
10abri amyloidosis10.1MAPT, TARDBP
11bradyopsia10.1MAPT, RPS27A, TARDBP
12mosaic trisomy 210.1C9orf72, MAPT
13apocrine adenocarcinoma10.1LRRK2, MAPT, SNCA
14retinitis pigmentosa 1310.1C9orf72, TARDBP
15corticosteroid-sensitive aseptic abscesses10.1MAPT, RPS27A, TARDBP
16amyotrophic lateral sclerosis type 1610.1ALS2, TARDBP
17neuropathy ataxia retinitis pigmentosa syndrome10.1MAPT, RPS27A, SNCA
18erythematosquamous dermatosis10.1RPS27A, SNCA
19coccidioidomycosis10.1MAPT, RPS27A, SNCA
20perry syndrome10.1SNCA, TARDBP
21basophil adenoma10.1C9orf72, MAPT, TARDBP
22ftdals210.1C9orf72, MAPT, TARDBP
23essential tremor10.1LRRK2, PARK2, SNCA
24peripheral vascular disease10.0C9orf72, MAPT, TARDBP
25amyotrophic lateral sclerosis 2110.0C9orf72, TARDBP
26vascular erectile tumor10.0LRRK2, MAPT, PARK2, SNCA
27granular cell carcinoma10.0ALS2, C9orf72, TARDBP
28benign ependymoma10.0C9orf72, MAPT, SNCA, TARDBP
29amyotrophic lateral sclerosis 1110.0ALS2, TARDBP
30atrioventricular septal defect 59.9APP, MAPT, SNCA
31tenosynovial giant cell tumor9.9C9orf72, SMN1, TARDBP
32neurodegeneration with brain iron accumulation 2b9.9APP, RPS27A
33parkinson disease type 99.9LRRK2, MAPT, PARK2, PARK7, SNCA
34progressive myoclonus epilepsy9.9APP, MAPT, SNCA
35semmekrot haraldsson weemaes syndrome9.9C9orf72, MAPT, RPS27A, TARDBP
36ankylosis9.9ALS2, C9orf72, TARDBP, TRPM7
37cardiomyopathy, dilated, 1u9.9MAPT, PCSK1N, RPS27A, SNCA, TARDBP
38multiple system atrophy9.8LRRK2, MAPT, PARK2, RPS27A, SNCA
39parkinson disease 109.8LRRK2, PARK2, PARK7, PINK1, SNCA
40congenital factor v deficiency9.8LRRK2, PARK2, PARK7, PINK1, SNCA
41testicular leydig cell tumor9.8APP, MAPT, RPS27A, TARDBP
42mucinoses9.7LRRK2, MAPT, PARK2, PARK7, PINK1, SNCA
43alzheimer disease9.6APP, LRRK2, MAPT, PCSK1N, SNCA, TARDBP
44mucolipidoses9.6ALS2, C9orf72, MAPT, SMN1, SOD2, TARDBP
45supranuclear palsy, progressive atypical9.4APP, LRRK2, MAPT, PARK2, PARK7, RPS27A
46teeth hard tissue disease9.4APP, LRRK2, MAPT, PARK2, PARK7, RPS27A
47demyelinating disease9.3APP, C9orf72, MAPT, PARK2, PARK7, SNCA
48dementia, lewy body9.3APP, LRRK2, MAPT, PARK2, PARK7, RPS27A
49syphilis9.2APP, LRRK2, MAPT, PARK2, PARK7, PINK1
50pick disease9.2APP, C9orf72, LRRK2, MAPT, PARK2, RPS27A

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:



Diseases related to amyotrophic lateral sclerosis-parkinsonism/dementia complex

Symptoms for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Symptoms by clinical synopsis from OMIM:

105500

Clinical features from OMIM:

105500

HPO human phenotypes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:

(show all 7)
id Description Frequency HPO Source Accession
1 dementia HP:0000726
2 bulbar palsy HP:0001283
3 parkinsonism HP:0001300
4 muscle weakness HP:0001324
5 abnormal lower motor neuron morphology HP:0002366
6 muscle cramps HP:0003394
7 amyotrophic lateral sclerosis HP:0007354

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

Genetic Tests for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Genetic tests related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex, Susceptibility to24

Anatomical Context for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Animal Models for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex or affiliated genes

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MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1ALS2, APP, MAPT, PARK2, SMN1, SOD2
2MP:00107718.0APP, LRRK2, MAPT, PARK2, SMN1, SNCA
3MP:00030127.0APP, C9orf72, LRRK2, MAPT, PARK2, PINK1
4MP:00107686.9ALS2, APP, LRRK2, MAPT, PARK2, SMN1
5MP:00053876.7ALS2, APP, LRRK2, MAPT, PINK1, SNCA
6MP:00053846.7APP, LRRK2, MAPT, PARK2, PARK7, PINK1
7MP:00053786.0ALS2, APP, MAPT, PARK2, PARK7, PCSK1N
8MP:00036315.9ALS2, APP, LRRK2, MAPT, PARK2, PARK7
9MP:00053765.6ALS2, APP, LRRK2, PARK2, PARK7, PINK1
10MP:00053865.4ALS2, APP, LRRK2, MAPT, PARK2, PARK7

Publications for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Articles related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:

idTitleAuthorsYear
1
C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex. (23588498)
2013
2
TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan. (19405049)
2010
3
Enduring involvement of tau, beta-amyloid, alpha-synuclein, ubiquitin and TDP-43 pathology in the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam (ALS/PDC). (18843496)
2008
4
Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan. (18759352)
2008
5
Atypical parkinsonism of Japan: amyotrophic lateral sclerosis-parkinsonism-dementia complex of the Kii peninsula of Japan (Muro disease): an update. (16092099)
2005
6
Amyotrophic lateral sclerosis/parkinsonism dementia complex: transgenic mice provide insights into mechanisms underlying a common tauopathy in an ethnic minority on Guam. (12093078)
2002
7
Apolipoprotein E in Guamanian amyotrophic lateral sclerosis/parkinsonism-dementia complex: genotype analysis and relationships to neuropathological changes. (8834536)
1996
8
Neurofibrillary degeneration in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. Immunochemical characterization of tau proteins. (7717459)
1995

Variations for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Expression for genes affiliated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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Cellular components related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1inclusion bodyGO:001623410.6LRRK2, SNCA
2Lewy bodyGO:009741310.1PARK2, PINK1
3terminal boutonGO:00431959.8APP, LRRK2, SNCA
4cell bodyGO:00442979.8MAPT, PARK7, PINK1
5trans-Golgi networkGO:00058029.8LRRK2, PCSK1N, SOD3
6growth coneGO:00304269.7ALS2, LRRK2, MAPT, SNCA
7neuron projectionGO:00430058.7ALS2, APP, LRRK2, MAPT, PARK2, PARK7
8axonGO:00304247.9ALS2, APP, LRRK2, MAPT, PARK7, PINK1
9extracellular spaceGO:00056157.3APP, C9orf72, LRRK2, PCSK1N, RPS27A, SNCA
10cytosolGO:00058296.2ALS2, APP, LRRK2, MAPT, PARK2, PARK7
11cytoplasmGO:00057375.0ALS2, APP, C9orf72, LRRK2, MAPT, PARK2

Biological processes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex according to GeneCards Suite gene sharing:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.5PARK2, PARK7
2negative regulation of hydrogen peroxide-induced cell deathGO:190320610.5LRRK2, PARK7
3cellular response to dopamineGO:190335110.5LRRK2, PARK2
4protein localization to mitochondrionGO:007058510.5LRRK2, PARK2
5cellular response to manganese ionGO:007128710.4LRRK2, PARK2
6removal of superoxide radicalsGO:001943010.4SOD2, SOD3
7regulation of neurotransmitter secretionGO:004692810.3PARK2, SNCA
8intrinsic apoptotic signaling pathway in response to oxidative stressGO:000863110.3MAPT, SOD2
9dopamine uptake involved in synaptic transmissionGO:005158310.3PARK2, PARK7, SNCA
10superoxide metabolic processGO:000680110.2SOD2, SOD3
11axon cargo transportGO:000808810.2APP, MAPT
12regulation of neuron deathGO:190121410.1LRRK2, SNCA
13negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.1LRRK2, PARK2, PARK7
14positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.0PARK7, PINK1
15negative regulation of oxidative stress-induced neuron deathGO:190320410.0PARK7, PINK1
16negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.0PARK7, PINK1
17cellular response to toxic substanceGO:009723710.0PARK2, PINK1
18regulation of dopamine secretionGO:001405910.0PARK2, SNCA
19negative regulation of neuron deathGO:190121510.0LRRK2, PARK2, PARK7
20hydrogen peroxide metabolic processGO:00427439.9PARK7, SOD2
21regulation of locomotionGO:00400129.9LRRK2, SNCA
22activation of protein kinase B activityGO:00321489.9PARK7, PINK1
23regulation of protein ubiquitinationGO:00313969.9PARK2, PINK1
24negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathwayGO:19021769.9PINK1, SOD2
25dopamine metabolic processGO:00424179.9PARK2, SNCA
26negative regulation of JNK cascadeGO:00463299.9PARK2, PINK1
27regulation of protein targeting to mitochondrionGO:19032149.9PARK2, PINK1
28regulation of mitochondrion organizationGO:00108219.9PARK2, PINK1
29synaptic transmission, dopaminergicGO:00019639.8PARK2, PARK7, SNCA
30autophagyGO:00069149.8C9orf72, LRRK2, PARK7
31negative regulation of oxidative stress-induced cell deathGO:19032029.7PARK2, PARK7, PINK1
32axonogenesisGO:00074099.7ALS2, APP, MAPT
33negative regulation of reactive oxygen species metabolic processGO:20003789.7PARK2, PINK1
34regulation of synaptic vesicle transportGO:19028039.6LRRK2, PARK2, PINK1
35positive regulation of mitochondrial fissionGO:00901419.6PARK2, PINK1
36positive regulation of peptidyl-serine phosphorylationGO:00331389.5PARK7, PINK1, SNCA
37macromitophagyGO:00004239.5PARK2, PINK1, RPS27A
38macroautophagyGO:00162369.5PARK2, PINK1, RPS27A
39regulation of reactive oxygen species metabolic processGO:20003779.4PARK2, PINK1, SNCA
40positive regulation of peptidase activityGO:00109529.4APP, PINK1
41adult locomotory behaviorGO:00083449.4APP, PARK2, PARK7, SNCA
42protein stabilizationGO:00508219.4PARK2, PARK7, PINK1
43regulation of mitochondrial membrane potentialGO:00518819.3PARK2, PARK7, PINK1, SOD2
44negative regulation of protein phosphorylationGO:00019339.3LRRK2, PARK2, PARK7, SNCA, TARDBP
45negative regulation of gene expressionGO:00106299.2PARK2, PARK7, PINK1, TARDBP
46cellular response to oxidative stressGO:00345999.1LRRK2, PARK7, PINK1, SNCA
47locomotory behaviorGO:00076269.0ALS2, APP, PARK2, SOD2
48mitochondrion organizationGO:00070058.9LRRK2, PARK2, PARK7, PINK1, SOD2
49negative regulation of neuron apoptotic processGO:00435248.8PARK2, PARK7, PINK1, SNCA, SOD2
50response to oxidative stressGO:00069797.7ALS2, LRRK2, PARK2, PINK1, SOD2, SOD3

Molecular functions related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1superoxide dismutase activityGO:000478410.4SOD2, SOD3
2ubiquitin-specific protease bindingGO:199038110.4PARK2, PARK7
3tubulin bindingGO:001563110.0LRRK2, MAPT, PARK2
4copper ion bindingGO:000550710.0PARK7, SNCA, SOD3
5phospholipase bindingGO:00432749.6PARK2, SNCA
6peptidase activator activityGO:00165049.5APP, PINK1
7kinase activityGO:00163019.1LRRK2, PINK1, TRPM7
8enzyme bindingGO:00198999.0APP, MAPT, PARK2, PARK7, SNCA
9identical protein bindingGO:00428027.8APP, LRRK2, PARK2, PARK7, SMN1, SNCA

Sources for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet