MCID: AMY066
MIFTS: 44

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 parkinson disease 7, autosomal recessive early-onset and west syndrome, 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 and lung, 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 72)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease 7, autosomal recessive early-onset12.3
2west syndrome10.4
3thyroiditis10.4
4pulmonary embolism10.4
5cardiogenic shock10.4
6bradyopsia10.4MAPT, TARDBP
7corticosteroid-sensitive aseptic abscesses10.4MAPT, TARDBP
8retinitis pigmentosa 1310.4C9orf72, TARDBP
9progressive transformation of germinal centers10.3C9orf72, MAPT
10mosaic trisomy 210.3C9orf72, MAPT
11thryoid dyshormonogenesis 610.3MAPT, TARDBP
12oligodendroglioma10.3C9orf72, TARDBP
13neuromyotonia and axonal neuropathy, autosomal recessive10.3C9orf72, TARDBP
14atrial fibrillation10.3MAPT, TARDBP
15neuropathy ataxia retinitis pigmentosa syndrome10.3MAPT, SNCA
16amyotrophic lateral sclerosis type 1410.3ALS2, TARDBP
17isolated tracheo-esophageal fistula10.2LRRK2, MAPT
18focal epilepsy10.2
19yunis-varon syndrome10.2ALS2, TARDBP
20ftdals210.2C9orf72, TARDBP
21angelman syndrome due to a point mutation10.2LRRK2, SNCA
22ocular motility disease10.2SOD2, SOD3
23diabetes insipidus, neurohypophyseal10.2ALS2, TARDBP
24actinobacillosis10.2MAPT, TARDBP
25semmekrot haraldsson weemaes syndrome10.2C9orf72, MAPT, TARDBP
26basophil adenoma10.2C9orf72, MAPT, TARDBP
27specific granule deficiency10.2ALS2, TARDBP
28esophagus carcinoma in situ10.2LRRK2, SNCA
29tauopathy10.2C9orf72, MAPT, TARDBP
30estrogen excess10.2MAPT, SNCA, TARDBP
31peripheral vascular disease10.2C9orf72, MAPT, TARDBP
32encephalitozoonosis10.2MAPT, TARDBP
33amyotrophic lateral sclerosis type 1010.1ALS2, TARDBP
34malignant pleural solitary fibrous tumor10.1ALS2, C9orf72, TARDBP
35spermatogenic failure 1010.0APP, MAPT
36writing disorder10.0C9orf72, LRRK2, MAPT
37birdshot chorioretinopathy10.0APP, MAPT
38iron-refractory iron deficiency anemia10.0PARK2, PARK7, SNCA
39coenzyme q10 deficiency, primary, 110.0PARK2, PARK7, SNCA
40cardiomyopathy, dilated, 1u10.0MAPT, PCSK1N, SNCA, TARDBP
41baritosis10.0SOD2, SOD3
42hypotrichosis 710.0PARK2, SNCA
43inverted transitional papilloma10.0MAPT, TARDBP
44communicating hydrocephalus10.0APP, MAPT
45perry syndrome9.9C9orf72, MAPT, SNCA, TARDBP
46parkinson disease 6, early onset9.9LRRK2, PARK2, PARK7
47epilepsy, progressive myoclonic 1b9.9LRRK2, PARK2, PARK7
48spondylolysis9.9ALS2, C9orf72, TARDBP, TRPM7
49cerebritis9.9APP, MAPT, TARDBP
50pde6d-related joubert syndrome9.9LRRK2, MAPT, PARK7, SNCA

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, Lung

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
Chronic lung disease in very low birth weight infants: Persistence and improvement of a quality improvement process in a tertiary level neonatal intensive care unit. (27197932)
2016
2
HMNC1 gene polymorphism associated with postpartum depression. (24604465)
2014
3
Identification of common variants in BRCA2 and MAP2K4 for susceptibility to sporadic pancreatic cancer. (23299404)
2013
4
Management of gastric lymphoma. (18939371)
2008
5
Pulmonary cryptococcosis: CT findings in immunocompetent patients. (15987984)
2005
6
Interaction between longevity-associated mitochondrial DNA 5178 C/A polymorphism and cigarette smoking on hematological parameters in Japanese men. (15680495)
2005
7
Translational infidelity and human cancer: role of the PTI-1 oncogene. (10216950)
1999
8
Expression of two glutamate transporters, GLAST and EAAT4, in the human cerebellum: their correlation in development and neonatal hypoxic-ischemic damage. (9630235)
1998
9
Renal osteodystrophy. (7477140)
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