ALS14
MCID: AMY074
MIFTS: 21

Amyotrophic Lateral Sclerosis Type 14 (ALS14)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 14

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis Type 14:

Name: Amyotrophic Lateral Sclerosis Type 14 12 15
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia 71
Amyotrophic Lateral Sclerosis, with or Without Frontotemporal Dementia 12
Amyotrophic Lateral Sclerosis 14 12
Als14 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060205
UMLS 71 C3151403

Summaries for Amyotrophic Lateral Sclerosis Type 14

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the VCP gene on chromosome 9.

MalaCards based summary : Amyotrophic Lateral Sclerosis Type 14, also known as amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis 14 with or without frontotemporal dementia and dyscalculia. An important gene associated with Amyotrophic Lateral Sclerosis Type 14 is VCP (Valosin Containing Protein).

Related Diseases for Amyotrophic Lateral Sclerosis Type 14

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis Type 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 12.1
2 dyscalculia 10.2 VCP CHMP2B
3 spinal muscular atrophy with lower extremity predominance 10.1 VAPB SETX
4 spinal muscular atrophy, distal, autosomal recessive, 4 10.1 SPG11 ALS2
5 frontotemporal dementia, chromosome 3-linked 10.1 VCP FUS CHMP2B
6 proximal spinal muscular atrophy 10.1 VAPB SETX
7 autosomal recessive distal hereditary motor neuronopathy 10.0 SETX ALS2
8 spastic paraplegia 57, autosomal recessive 10.0 SPG11 ALS2
9 amyotrophic lateral sclerosis 3 10.0 DUSP11 ALS2
10 amyotrophic lateral sclerosis 19 9.9 UBQLN2 PRPH ALS2
11 agraphia 9.9 VCP C9orf72
12 semantic dementia 9.9 CHMP2B C9orf72
13 spastic paraplegia 4, autosomal dominant 9.8 SPG11 ALS2
14 dysgraphia 9.8 CHMP2B C9orf72
15 autosomal dominant distal hereditary motor neuronopathy 9.8 SETX ALS2
16 progressive non-fluent aphasia 9.8 VCP CHMP2B C9orf72
17 pica disease 9.8 FUS C9orf72
18 writing disorder 9.8 VCP CHMP2B C9orf72
19 brown-vialetto-van laere syndrome 9.7 UBQLN2 C9orf72
20 perry syndrome 9.7 VCP CHMP2B C9orf72
21 amyotrophic lateral sclerosis type 22 9.7 PRPH C9orf72
22 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 9.7 PRPH C9orf72
23 mutism 9.7 CHMP2B C9orf72
24 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 9.7 PRPH C9orf72
25 dermatopathia pigmentosa reticularis 9.6 UBQLN2 FUS C9orf72
26 amyotrophic lateral sclerosis type 5 9.6 VAPB SPG11 SETX ALS2
27 amyotrophic lateral sclerosis 20 9.5 VAPB SPG11 PRPH ALS2
28 associative agnosia 9.5 VCP FUS CHMP2B C9orf72
29 nominal aphasia 9.5 VCP FUS CHMP2B C9orf72
30 supranuclear palsy, progressive, 1 9.5 VCP FUS CHMP2B C9orf72
31 dementia, lewy body 9.5 VCP FUS CHMP2B C9orf72
32 speech and communication disorders 9.4 VCP FUS CHMP2B C9orf72
33 progressive bulbar palsy 9.4 VAPB FUS C9orf72 ALS2
34 neuromuscular disease 9.4 VCP FUS C9orf72 ALS2
35 spinal and bulbar muscular atrophy, x-linked 1 9.4 FUS C9orf72
36 autosomal dominant cerebellar ataxia 9.3 VCP SETX FUS C9orf72
37 frontotemporal dementia 9.3 VCP UBQLN2 FUS CHMP2B C9orf72
38 dementia 9.3 VCP UBQLN2 FUS CHMP2B C9orf72
39 juvenile amyotrophic lateral sclerosis 9.3 SPG11 SIGMAR1 SETX FUS ALS2
40 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.3 VCP UBQLN2 FUS CHMP2B C9orf72
41 hemochromatosis, type 1 9.3 VAPB SPG11 SETX OPTN ALS2
42 multisystem proteinopathy 9.2 VCP UBQLN2 OPTN FUS C9orf72
43 aphasia 9.2 VCP OPTN FUS CHMP2B C9orf72
44 muscular atrophy 9.1 VAPB SIGMAR1 SETX FUS C9orf72
45 progressive muscular atrophy 9.1 VCP VAPB UBQLN2 FUS CHMP2B C9orf72
46 spinal muscular atrophy 9.0 VAPB SIGMAR1 SETX FUS C9orf72
47 dystonia 9.0 SETX FUS CHMP2B C9orf72 ALS2
48 amyotrophic lateral sclerosis 7 9.0 VAPB SPG11 SETX PRPH CHMP2B ALS2
49 pick disease of brain 9.0 VCP UBQLN2 OPTN FUS CHMP2B C9orf72
50 amyotrophic lateral sclerosis 21 8.9 VAPB SPG11 SETX PRPH FUS ALS2

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 14:



Diseases related to Amyotrophic Lateral Sclerosis Type 14

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 14

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 14

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 14

Genetic Tests for Amyotrophic Lateral Sclerosis Type 14

Anatomical Context for Amyotrophic Lateral Sclerosis Type 14

Publications for Amyotrophic Lateral Sclerosis Type 14

Articles related to Amyotrophic Lateral Sclerosis Type 14:

# Title Authors PMID Year
1
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. 61
23138764 2013
2
Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains. 61
23056506 2012

Variations for Amyotrophic Lateral Sclerosis Type 14

Expression for Amyotrophic Lateral Sclerosis Type 14

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 14.

Pathways for Amyotrophic Lateral Sclerosis Type 14

GO Terms for Amyotrophic Lateral Sclerosis Type 14

Cellular components related to Amyotrophic Lateral Sclerosis Type 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 VCP UBQLN2 SPG11 SIGMAR1 SETX OPTN
2 cytoplasm GO:0005737 10 VCP VAPB UBQLN2 SPG11 SETX PRPH
3 cytoplasmic vesicle GO:0031410 9.72 UBQLN2 SPG11 SIGMAR1 OPTN C9orf72
4 dendrite GO:0030425 9.71 SPG11 FUS C9orf72 ALS2
5 perikaryon GO:0043204 9.54 PRPH FUS C9orf72
6 axon GO:0030424 9.35 SPG11 SETX PRPH C9orf72 ALS2
7 autophagosome GO:0005776 9.33 UBQLN2 OPTN C9orf72
8 growth cone GO:0030426 8.92 SIGMAR1 SETX C9orf72 ALS2

Biological processes related to Amyotrophic Lateral Sclerosis Type 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell death GO:0008219 9.32 OPTN ALS2
2 endosome organization GO:0007032 9.26 CHMP2B ALS2
3 axon extension GO:0048675 9.16 SPG11 C9orf72
4 autophagy GO:0006914 9.02 VCP UBQLN2 OPTN CHMP2B C9orf72
5 regulation of autophagosome assembly GO:2000785 8.96 UBQLN2 C9orf72

Molecular functions related to Amyotrophic Lateral Sclerosis Type 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 C9orf72 ALS2
2 Rab GTPase binding GO:0017137 9.13 OPTN C9orf72 ALS2
3 polyubiquitin modification-dependent protein binding GO:0031593 8.8 VCP UBQLN2 OPTN

Sources for Amyotrophic Lateral Sclerosis Type 14

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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