MCID: AMY066
MIFTS: 45

Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

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

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Aliases & Descriptions for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:

Name: Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 49
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 45 67 24
Guam Disease 45 51 67
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex, Susceptibility to 11
Amyotrophic Lateral Sclerosis, Parkinsonism/dementia Complex of Guam 45
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia of Guam Syndrome 51
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex of Guam 67
 
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 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
UMLS65 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 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, is related to tauopathy and parkinson disease 7, autosomal recessive early-onset, and has symptoms including amyotrophic lateral sclerosis, muscle cramps and abnormal lower motor neuron morphology. 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 Oxidative Stress and Alpha-synuclein signaling. Affiliated tissues include cerebellum, colon and kidney, and related mouse phenotypes are integument and no phenotypic analysis.

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 69)
idRelated DiseaseScoreTop Affiliating Genes
1tauopathy30.8C9orf72, MAPT, TARDBP
2parkinson disease 7, autosomal recessive early-onset11.9
3dementia10.7
4lateral sclerosis10.7
5bradyopsia10.6MAPT, TARDBP
6corticosteroid-sensitive aseptic abscesses10.6MAPT, TARDBP
7retinitis pigmentosa 1310.5C9orf72, TARDBP
8progressive transformation of germinal centers10.5C9orf72, MAPT
9mosaic trisomy 210.5C9orf72, MAPT
10thryoid dyshormonogenesis 610.5MAPT, TARDBP
11oligodendroglioma10.5C9orf72, TARDBP
12neuromyotonia and axonal neuropathy, autosomal recessive10.5C9orf72, TARDBP
13atrial fibrillation10.4MAPT, TARDBP
14neuropathy ataxia retinitis pigmentosa syndrome10.4MAPT, SNCA
15amyotrophic lateral sclerosis type 1410.4ALS2, TARDBP
16isolated tracheo-esophageal fistula10.4LRRK2, MAPT
17yunis-varon syndrome10.4ALS2, TARDBP
18ftdals210.3C9orf72, TARDBP
19angelman syndrome due to a point mutation10.3LRRK2, SNCA
20ocular motility disease10.3SOD2, SOD3
21diabetes insipidus, neurohypophyseal10.3ALS2, TARDBP
22actinobacillosis10.3MAPT, TARDBP
23semmekrot haraldsson weemaes syndrome10.3C9orf72, MAPT, TARDBP
24basophil adenoma10.3C9orf72, MAPT, TARDBP
25specific granule deficiency10.3ALS2, TARDBP
26esophagus carcinoma in situ10.3LRRK2, SNCA
27estrogen excess10.2MAPT, SNCA, TARDBP
28peripheral vascular disease10.2C9orf72, MAPT, TARDBP
29encephalitozoonosis10.2MAPT, TARDBP
30amyotrophic lateral sclerosis type 1010.2ALS2, TARDBP
31malignant pleural solitary fibrous tumor10.1ALS2, C9orf72, TARDBP
32spermatogenic failure 1010.1APP, MAPT
33writing disorder10.0C9orf72, LRRK2, MAPT
34birdshot chorioretinopathy10.0APP, MAPT
35iron-refractory iron deficiency anemia10.0PARK2, PARK7, SNCA
36coenzyme q10 deficiency, primary, 110.0PARK2, PARK7, SNCA
37cardiomyopathy, dilated, 1u10.0MAPT, PCSK1N, SNCA, TARDBP
38baritosis10.0SOD2, SOD3
39hypotrichosis 79.9PARK2, SNCA
40inverted transitional papilloma9.9MAPT, TARDBP
41communicating hydrocephalus9.9APP, MAPT
42perry syndrome9.9C9orf72, MAPT, SNCA, TARDBP
43parkinson disease 6, early onset9.9LRRK2, PARK2, PARK7
44epilepsy, progressive myoclonic 1b9.9LRRK2, PARK2, PARK7
45spondylolysis9.8ALS2, C9orf72, TARDBP, TRPM7
46cerebritis9.8APP, MAPT, TARDBP
47pde6d-related joubert syndrome9.8LRRK2, MAPT, PARK7, SNCA
48retinoblastoma fa - friedreich ataxia9.8APP, MAPT, SNCA
49atrioventricular septal defect 59.7APP, MAPT, SNCA
50lipoprotein glomerulopathy9.7APP, MAPT

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 amyotrophic lateral sclerosis HP:0007354
2 muscle cramps HP:0003394
3 abnormal lower motor neuron morphology HP:0002366
4 muscle weakness HP:0001324
5 parkinsonism HP:0001300
6 bulbar palsy HP:0001283
7 dementia HP:0000726

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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Anatomical Context for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex

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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex:

33
Cerebellum, Colon, Kidney, Lung, Thyroid

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:00107718.2APP, LRRK2, MAPT, PARK2, SNCA, SOD2
2MP:00030127.5APP, C9orf72, LRRK2, MAPT, PARK2, SNCA
3MP:00053697.5ALS2, APP, MAPT, PARK2, SOD2, TARDBP
4MP:00053846.8APP, C9orf72, LRRK2, MAPT, PARK2, PARK7
5MP:00053876.3ALS2, APP, C9orf72, LRRK2, MAPT, SNCA
6MP:00036316.0ALS2, APP, C9orf72, LRRK2, MAPT, PARK2
7MP:00107686.0ALS2, APP, LRRK2, MAPT, PARK2, SNCA
8MP:00053865.6ALS2, APP, C9orf72, LRRK2, MAPT, PARK2
9MP:00053765.6ALS2, APP, C9orf72, LRRK2, MAPT, PARK2
10MP:00053785.5ALS2, APP, C9orf72, 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
Identification of phosphorylation sites in PHF-TAU from patients with Guam amyotrophic lateral sclerosis/parkinsonism-dementia complex. (8858002)
1996
9
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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Pathways related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7SOD2, SOD3
29.3PARK2, PARK7, SNCA
38.9LRRK2, PARK2, PARK7, SNCA

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:

idNameGO IDScoreTop Affiliating Genes
1axonGO:00304249.6LRRK2, PARK7, SNCA
2extracellular spaceGO:00056159.2C9orf72, LRRK2, SNCA
3intracellular membrane-bounded organelleGO:00432318.7ALS2, APP, SNCA

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide metabolic processGO:004274310.4PARK7, SOD2
2negative regulation of hydrogen peroxide-induced cell deathGO:190320610.4LRRK2, PARK7
3negative regulation of neuron deathGO:190121510.2PARK7, SNCA
4regulation of neuron deathGO:190121410.1LRRK2, SNCA
5cellular response to oxidative stressGO:003459910.1LRRK2, PARK7
6adult locomotory behaviorGO:000834410.1PARK7, SNCA
7dopamine uptake involved in synaptic transmissionGO:005158310.0PARK2, SNCA
8cellular response to dopamineGO:19033519.9LRRK2, PARK2
9regulation of canonical Wnt signaling pathwayGO:00608289.9LRRK2, PARK2
10protein localization to mitochondrionGO:00705859.9LRRK2, PARK2
11regulation of neurotransmitter secretionGO:00469289.9PARK2, SNCA
12negative regulation of cell deathGO:00605489.8PARK2, PARK7
13superoxide metabolic processGO:00068019.7SOD2, SOD3
14negative regulation of neuron apoptotic processGO:00435249.5PARK2, SNCA, SOD2
15synaptic transmission, glutamatergicGO:00352499.5ALS2, PARK2
16synaptic transmission, dopaminergicGO:00019639.3PARK2, PARK7, SNCA
17mitochondrion organizationGO:00070059.2LRRK2, PARK2, PARK7, SOD2
18locomotory behaviorGO:00076268.9ALS2, SOD2
19negative regulation of protein phosphorylationGO:00019338.8LRRK2, PARK2, PARK7, TARDBP
20response to oxidative stressGO:00069797.9APP, LRRK2, PARK2, PARK7, SOD2, SOD3

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