MCID: AMY102
MIFTS: 26

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
OMIM Phenotypic Series 56 PS105400
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 SNCA (Synuclein Alpha). Affiliated tissues include bone and brain, and related phenotypes are amyotrophic lateral sclerosis and dementia

More information from OMIM: 205200 PS105400

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 29)
# Related Disease Score Top Affiliating Genes
1 dementia 29.4 VCP SNCA C9orf72
2 muscular atrophy 10.0
3 myoclonus 10.0
4 amyotrophic lateral sclerosis type 6 9.7 C9orf72 ANG
5 amyotrophic lateral sclerosis 4, juvenile 9.7 C9orf72 ANG
6 amyotrophic lateral sclerosis 8 9.7 C9orf72 ANG
7 machado-joseph disease 9.7 VCP SNCA
8 associative agnosia 9.6 VCP C9orf72
9 progressive non-fluent aphasia 9.6 VCP C9orf72
10 amyotrophic lateral sclerosis type 14 9.6 VCP C9orf72
11 nominal aphasia 9.6 VCP C9orf72
12 writing disorder 9.6 VCP C9orf72
13 amyotrophic lateral sclerosis 16, juvenile 9.6 VCP C9orf72
14 essential tremor 9.6 SNCA C9orf72
15 progressive muscular atrophy 9.6 VCP C9orf72
16 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.4 VCP C9orf72
17 perry syndrome 9.4 VCP SNCA C9orf72
18 aphasia 9.4 VCP SNCA C9orf72
19 lateral sclerosis 9.4 VCP C9orf72 ANG
20 supranuclear palsy, progressive, 1 9.4 VCP SNCA C9orf72
21 dementia, lewy body 9.4 VCP SNCA C9orf72
22 movement disease 9.4 SNCA C9orf72
23 pick disease of brain 9.4 VCP SNCA C9orf72
24 autosomal dominant cerebellar ataxia 9.3 VCP SNCA C9orf72
25 motor neuron disease 9.2 VCP SNCA C9orf72
26 amyotrophic lateral sclerosis 1 9.1 VCP SNCA C9orf72 ANG
27 frontotemporal dementia 9.0 VCP SNCA IFT74 C9orf72
28 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.0 VCP IFT74 C9orf72 ANG
29 parkinson disease, late-onset 8.9 VCP SNCA RIT2 C9orf72

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 amyotrophic lateral sclerosis 31 HP:0007354
2 dementia 31 HP:0000726
3 distal amyotrophy 31 HP:0003693

Symptoms via clinical synopsis from OMIM:

56
Neuro:
dementia

Misc:
onset about age 10

Muscle:
distal muscular atrophy

Clinical features from OMIM:

205200

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

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia:

40
Bone, Brain

Publications for Amyotrophic Lateral Sclerosis, Juvenile, with Dementia

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

(show all 11)
# Title Authors PMID Year
1
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
2
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
3
Juvenile amyotrophic lateral sclerosis-dementia complex in a Dutch family. 56
5692341 1968
4
[Parkinsonism-ALS-dementia complex of Guam and Kii peninsula]. 61
22755234 2011
5
MRI-based functional neuroimaging in ALS: an update. 61
19922112 2009
6
Genetic epidemiology of amyotrophic lateral sclerosis. 61
12630951 2003
7
[Parkinsonism-ALS-dementia complex: case report]. 61
15098346 2003
8
[Creutzfeldt-Jakob disease: value of MRI]. 61
11471291 2001
9
[The amyotrophic lateral sclerosis syndrome--frontal-type dementia]. 61
7778388 1995
10
Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology. 61
3689053 1987
11
[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 nucleus GO:0005634 9.5 VCP SNCA RIT2 IFT74 C9orf72 ANG
2 cytoplasmic stress granule GO:0010494 9.16 VCP C9orf72
3 growth cone GO:0030426 8.8 SNCA C9orf72 ANG

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

# Name GO ID Score Top Affiliating Genes
1 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 8.96 VCP SNCA
2 negative regulation of protein phosphorylation GO:0001933 8.62 SNCA C9orf72

Molecular functions related to Amyotrophic Lateral Sclerosis, Juvenile, with Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 SNCA ANG
2 beta-tubulin binding GO:0048487 8.62 SNCA IFT74

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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