MCID: AMY102
MIFTS: 24

Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia:

Name: Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 56 29 71
Juvenile Amyotrophic Lateral Sclerosis with Dementia 12 15
Als-Dementia Complex 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
amyotrophic lateral sclerosis, juvenile, with dementia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110067
OMIM 56 205200
MedGen 41 C1859806
SNOMED-CT via HPO 68 258211005 52448006 86044005
UMLS 71 C1859806

Summaries for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Disease Ontology : 12 A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.

MalaCards based summary : Amyotrophic Lateral Sclerosis, Juvenile, with Dementia, also known as juvenile amyotrophic lateral sclerosis with dementia, is related to dementia and muscular atrophy. An important gene associated with Amyotrophic Lateral Sclerosis, Juvenile, with Dementia is SNCB (Synuclein Beta). Related phenotypes are distal amyotrophy and dementia

More information from OMIM: 205200

Related Diseases for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Diseases related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 dementia 29.7 TARDBP SNCG SNCB
2 muscular atrophy 10.0
3 myoclonus 10.0
4 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.0 TARDBP SNCB
5 aphasia 9.9 TARDBP SNCB
6 multiple system atrophy 1 9.9 SNCG SNCB
7 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.8 TARDBP IFT74
8 neurodegeneration with brain iron accumulation 9.7 SNCG SNCB
9 movement disease 9.7 TARDBP SNCG
10 frontotemporal dementia 9.6 TARDBP SNCB IFT74
11 dementia, lewy body 9.6 TARDBP SNCG SNCB
12 parkinson disease, late-onset 9.0 SNCG SNCB RIT2

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia:



Diseases related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Human phenotypes related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia:

31
# Description HPO Frequency HPO Source Accession
1 distal amyotrophy 31 HP:0003693
2 dementia 31 HP:0000726
3 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM:

56
Neuro:
dementia

Misc:
onset about age 10

Muscle:
distal muscular atrophy

Clinical features from OMIM:

205200

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.32 AFF1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.32 AFF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.32 AFF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.32 AFF1 TARDBP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.32 AFF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.32 AFF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.32 AFF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.32 AFF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.32 AFF1

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Genetic tests related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia 29

Anatomical Context for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Publications for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Articles related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia:

# Title Authors PMID Year
1
Juvenile amyotrophic lateral sclerosis-dementia complex in a Dutch family. 56
5692341 1968
2
[Parkinsonism-ALS-dementia complex of Guam and Kii peninsula]. 61
22755234 2011
3
MRI-based functional neuroimaging in ALS: an update. 61
19922112 2009
4
Genetic epidemiology of amyotrophic lateral sclerosis. 61
12630951 2003
5
[Parkinsonism-ALS-dementia complex: case report]. 61
15098346 2003
6
[Creutzfeldt-Jakob disease: value of MRI]. 61
11471291 2001
7
[The amyotrophic lateral sclerosis syndrome--frontal-type dementia]. 61
7778388 1995
8
Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology. 61
3689053 1987
9
[Levodopa therapy in a patient with ALS-dementia complex]. 61
3440359 1987

Variations for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Expression for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia.

Pathways for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

GO Terms for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

Cellular components related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.8 SNCG SNCB RIT2

Biological processes related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse organization GO:0050808 8.96 SNCG SNCB
2 chemical synaptic transmission GO:0007268 8.8 SNCG SNCB RIT2

Sources for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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