MCID: AMY074
MIFTS: 26

Amyotrophic Lateral Sclerosis Type 14

Categories: Neuronal diseases, Mental diseases, Genetic diseases, Rare 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 73
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 73 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 bronchopneumonia. An important gene associated with Amyotrophic Lateral Sclerosis Type 14 is UBQLN2 (Ubiquilin 2), and among its related pathways/superpathways are TBC/RABGAPs and Mitophagy - animal.

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 all 30)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.8
2 bronchopneumonia 10.4 VAPA VAPB
3 postpoliomyelitis syndrome 10.3 TARDBP VCP
4 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.3 TARDBP VCP
5 amyotrophic lateral sclerosis 8 10.3 FAF1 VAPA VAPB
6 expressive language disorder 10.3 FUS TARDBP
7 amyotrophic lateral sclerosis 12 10.2 A1BG OPTN
8 amyotrophic lateral sclerosis type 6 10.2 FUS TARDBP
9 amyotrophic lateral sclerosis 18 10.2 FUS TARDBP
10 brown-vialetto-van laere syndrome 10.2 TARDBP UBQLN2
11 lethal congenital contracture syndrome 1 10.2 FUS TARDBP
12 anterior horn cell disease 10.0 FUS TARDBP
13 visual epilepsy 10.0 GABARAPL2 VAPA
14 nominal aphasia 9.9 FUS TARDBP VCP
15 ideomotor apraxia 9.9 FUS TARDBP
16 amyotrophic lateral sclerosis 7 9.9 FUS OPTN TARDBP
17 amyotrophic lateral sclerosis 9 9.9 FUS OPTN TARDBP
18 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.9 FUS OPTN TARDBP
19 spinocerebellar ataxia 31 9.8 FUS TARDBP
20 nervous system disease 9.8 FUS OPTN TARDBP
21 basal ganglia disease 9.6 FUS TARDBP UBQLN2 VCP
22 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 FUS TARDBP UBQLN2 VCP
23 frontotemporal dementia 9.6 FUS TARDBP UBQLN2 VCP
24 dementia 9.6 FUS TARDBP UBQLN2 VCP
25 pick disease of brain 9.6 FUS TARDBP
26 amyotrophic lateral sclerosis 11 9.3 A1BG FUS OPTN TARDBP
27 amyotrophic lateral sclerosis 21 9.2 FUS OPTN TARDBP VAPB VCP
28 motor neuron disease 9.2 FUS OPTN TARDBP VAPB VCP
29 lateral sclerosis 8.9 FUS OPTN TARDBP UBQLN2 VAPB VCP
30 amyotrophic lateral sclerosis 1 7.8 A1BG FUS OPTN TARDBP UBQLN2 VAPA

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

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

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

# Super pathways Score Top Affiliating Genes
1 10.63 GABARAPL2 OPTN
2 10.61 GABARAPL1 GABARAPL2 OPTN

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 cytoplasm GO:0005737 9.96 ASNA1 FAF1 FUS GABARAPL1 GABARAPL2 OPTN
2 cytoplasmic vesicle GO:0031410 9.73 GABARAPL1 GABARAPL2 OPTN UBQLN2
3 Golgi membrane GO:0000139 9.71 GABARAPL2 OPTN VAPA VAPB
4 autophagosome membrane GO:0000421 9.37 GABARAPL1 GABARAPL2
5 perinuclear region of cytoplasm GO:0048471 9.35 FAF1 FUS OPTN VAPA VCP
6 endoplasmic reticulum exit site GO:0070971 9.32 VAPA VAPB
7 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 9.16 FAF1 VCP
8 autophagosome GO:0005776 8.92 GABARAPL1 GABARAPL2 OPTN UBQLN2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.61 VAPA VAPB VCP
2 sphingolipid biosynthetic process GO:0030148 9.51 VAPA VAPB
3 macroautophagy GO:0016236 9.5 GABARAPL1 GABARAPL2 VCP
4 endoplasmic reticulum unfolded protein response GO:0030968 9.49 VAPB VCP
5 autophagy of mitochondrion GO:0000422 9.48 GABARAPL1 GABARAPL2
6 endoplasmic reticulum organization GO:0007029 9.46 VAPA VAPB
7 positive regulation of protein complex assembly GO:0031334 9.4 FAF1 VCP
8 cellular response to nitrogen starvation GO:0006995 9.37 GABARAPL1 GABARAPL2
9 cell death GO:0008219 9.33 FAF1 OPTN VAPA
10 COPII-coated vesicle budding GO:0090114 9.26 VAPA VAPB
11 autophagosome maturation GO:0097352 9.13 GABARAPL1 GABARAPL2 VCP
12 autophagy GO:0006914 9.02 GABARAPL1 GABARAPL2 OPTN UBQLN2 VCP

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.58 FAF1 VAPA VCP
2 microtubule binding GO:0008017 9.54 GABARAPL2 VAPA VAPB
3 ubiquitin protein ligase binding GO:0031625 9.46 FAF1 GABARAPL1 GABARAPL2 VCP
4 polyubiquitin modification-dependent protein binding GO:0031593 9.32 OPTN VCP
5 GABA receptor binding GO:0050811 9.26 GABARAPL1 GABARAPL2
6 beta-tubulin binding GO:0048487 9.13 GABARAPL1 GABARAPL2 VAPB
7 FFAT motif binding GO:0033149 8.62 VAPA VAPB

Sources for Amyotrophic Lateral Sclerosis Type 14

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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