ALS-PDC1
MCID: AMY027
MIFTS: 29

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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 57 53 75 29
Guam Disease 57 53 59 75
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex, Susceptibility to 57 13
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex of Guam 57 75
Parkinsonian Disorders 44 73
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1, Susceptibility to 6
Amyotrophic Lateral Sclerosis, Parkinsonism/dementia Complex of Guam 53
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia of Guam Syndrome 59
Sclerosis, Lateral, Amyotrophic/parkinsonism/dementia Complex 1 40
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 57
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 59
Amyotrophic Lateral Sclerosis, Guam Form 73
Parkinsonism-Dementia-Als Complex 59
Lytico-Bodig Disease 59
Als/pdc of Guam 75
Als-Pdc1 75
Als-Pdc 57
Pdals 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 105500
Orphanet 59 ORPHA90020
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 74 C0543859
MedGen 42 C0543859

Summaries for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

OMIM : 57 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, bradykinesia and abnormality of extrapyramidal motor function. An important gene associated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 is TRPM7 (Transient Receptor Potential Cation Channel Subfamily M Member 7). Related phenotypes are dementia and bulbar palsy

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 dementia 29.5 PARK7 TRPM7
2 parkinson disease 7, autosomal recessive early-onset 10.9
3 amyotrophic lateral sclerosis 1 10.5
4 lateral sclerosis 10.5
5 rem sleep behavior disorder 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
amyotrophic lateral sclerosis
parkinsonism-dementia
progressive motor function loss
lower motor neuron manifestations
bulbar paralysis

Misc:
chronic, progressive, and fatal

Muscle:
muscle weakness
muscle cramps


Clinical features from OMIM:

105500

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dementia 32 HP:0000726
2 bulbar palsy 32 HP:0001283
3 parkinsonism 32 HP:0001300
4 muscle weakness 32 HP:0001324
5 abnormal lower motor neuron morphology 32 HP:0002366
6 muscle cramps 32 HP:0003394
7 amyotrophic lateral sclerosis 32 HP:0007354

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


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

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

46
# 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 73 / NDF-RT 51 :


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 29 TRPM7

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

Publications for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

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

# Title Authors Year
1
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
2
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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