ALS-PDC1
MCID: AMY027
MIFTS: 33

Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 (ALS-PDC1)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

Name: Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 58 54 76 30
Guam Disease 58 54 60 76
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex, Susceptibility to 58 13
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex of Guam 58 76
Parkinsonian Disorders 45 74
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1, Susceptibility to 6
Amyotrophic Lateral Sclerosis, Parkinsonism/dementia Complex of Guam 54
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia of Guam Syndrome 60
Sclerosis, Lateral, Amyotrophic/parkinsonism/dementia Complex 1 41
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 58
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 60
Amyotrophic Lateral Sclerosis, Guam Form 74
Parkinsonism-Dementia-Als Complex 60
Lytico-Bodig Disease 60
Als/pdc of Guam 76
Als-Pdc1 76
Als-Pdc 58
Pdals 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 105500
ICD10 via Orphanet 35 G12.2
UMLS via Orphanet 75 C0543859
Orphanet 60 ORPHA90020
MedGen 43 C0543859

Summaries for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

OMIM : 58 Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual. (105500)

MalaCards based summary : Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1, also known as guam disease, is related to dementia and parkinson disease 7, autosomal recessive early-onset, and has symptoms including tremor, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 is TRPM7 (Transient Receptor Potential Cation Channel Subfamily M Member 7). Affiliated tissues include brain, and related phenotypes are muscle weakness and amyotrophic lateral sclerosis

UniProtKB/Swiss-Prot : 76 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 1

Diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 dementia 30.4 PARK7 TRPM7
2 parkinson disease 7, autosomal recessive early-onset 11.1
3 amyotrophic lateral sclerosis 1 10.7
4 lateral sclerosis 10.7
5 intermittent claudication 10.4
6 rem sleep behavior disorder 10.1
7 ophthalmomyiasis 10.1
8 supranuclear palsy, progressive, 1 10.0
9 pseudobulbar affect 10.0
10 alzheimer disease 9.8
11 parkinson disease, late-onset 9.8
12 ataxia and polyneuropathy, adult-onset 9.8
13 parkinsonism-dystonia, infantile, 2 9.8
14 focal dystonia 9.8
15 movement disease 9.8
16 dystonia 9.8
17 brain dopamine-serotonin vesicular transport disease 9.8
18 pure autonomic failure 9.8
19 myoclonus 9.8
20 tremor 9.8
21 caribbean parkinsonism 9.8

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:



Diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Human phenotypes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 amyotrophic lateral sclerosis 33 HP:0007354
3 paralysis 33 HP:0003470
4 dementia 33 HP:0000726
5 parkinsonism 33 HP:0001300
6 bulbar palsy 33 HP:0001283
7 abnormal lower motor neuron morphology 33 HP:0002366
8 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
Muscle:
muscle weakness
muscle cramps

Misc:
chronic, progressive, and fatal

Neuro:
amyotrophic lateral sclerosis
parkinsonism-dementia
progressive motor function loss
lower motor neuron manifestations
bulbar paralysis

Clinical features from OMIM:

105500

UMLS symptoms related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:


tremor, abnormality of extrapyramidal motor function, bradykinesia, central nervous system signs and symptoms, symptoms

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 8.8 PARK7 PCSK1N TRPM7

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: parkinsonian disorders

Genetic Tests for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Genetic tests related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 30 TRPM7

Anatomical Context for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

42
Brain

Publications for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Articles related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

# Title Authors Year
1
A unique retinal epitheliopathy is associated with amyotrophic lateral sclerosis/Parkinsonism-Dementia complex of Guam. ( 26153661 )
2015
2
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. ( 24829003 )
2014
3
TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan. ( 19405049 )
2010
4
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
5
A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders. ( 16051700 )
2005
6
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 1

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPM7 NM_017672.5(TRPM7): c.4445C> T (p.Thr1482Ile) single nucleotide variant risk factor rs8042919 GRCh37 Chromosome 15, 50878630: 50878630
2 TRPM7 NM_017672.5(TRPM7): c.4445C> T (p.Thr1482Ile) single nucleotide variant risk factor rs8042919 GRCh38 Chromosome 15, 50586433: 50586433

Expression for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1.

Pathways for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

GO Terms for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Molecular functions related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.62 PARK7 PCSK1N

Sources for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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