ALS15
MCID: AMY079
MIFTS: 25

Amyotrophic Lateral Sclerosis Type 15 (ALS15)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 15

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis Type 15:

Name: Amyotrophic Lateral Sclerosis Type 15 12 15
Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia 12 71
Amyotrophic Lateral Sclerosis 15 12
Als15 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060206
UMLS 71 C3275459

Summaries for Amyotrophic Lateral Sclerosis Type 15

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the UBQLN2 gene on chromosome X.

MalaCards based summary : Amyotrophic Lateral Sclerosis Type 15, also known as amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, is related to juvenile amyotrophic lateral sclerosis and amyotrophic lateral sclerosis 15 with or without frontotemporal dementia, and has symptoms including dystonia and athetosis. An important gene associated with Amyotrophic Lateral Sclerosis Type 15 is UBQLN2 (Ubiquilin 2). Affiliated tissues include salivary gland, endothelial and bone.

Related Diseases for Amyotrophic Lateral Sclerosis Type 15

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 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.2 SPG11 SIGMAR1 SETX ALS2
2 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 12.0
3 associative agnosia 10.0 CHMP2B C9orf72
4 progressive non-fluent aphasia 10.0 CHMP2B C9orf72
5 aphasia 10.0 CHMP2B C9orf72
6 semantic dementia 10.0 CHMP2B C9orf72
7 pontocerebellar hypoplasia, type 2e 10.0 CHMP2B ALS2
8 nominal aphasia 10.0 CHMP2B C9orf72
9 dysgraphia 10.0 CHMP2B C9orf72
10 prosopagnosia 9.9 CHMP2B C9orf72
11 writing disorder 9.9 CHMP2B C9orf72
12 spastic paraplegia 57, autosomal recessive 9.9 SPG11 ALS2
13 brown-vialetto-van laere syndrome 9.9 UBQLN2 C9orf72
14 amyotrophic lateral sclerosis type 22 9.9 UBQLN2 PRPH
15 mutism 9.9 CHMP2B C9orf72
16 frontotemporal dementia 9.9 UBQLN2 CHMP2B C9orf72
17 dementia 9.9 UBQLN2 CHMP2B C9orf72
18 progressive bulbar palsy 9.9 VAPB C9orf72 ALS2
19 spastic paraplegia 4, autosomal dominant 9.8 SPG11 ALS2
20 perry syndrome 9.8 CHMP2B C9orf72
21 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.8 UBQLN2 CHMP2B C9orf72
22 pseudobulbar palsy 9.8 CHMP2B C9orf72 ALS2
23 pick disease of brain 9.7 UBQLN2 CHMP2B C9orf72
24 muscular atrophy 9.6 VAPB SIGMAR1 SETX C9orf72
25 spinal muscular atrophy 9.6 VAPB SIGMAR1 SETX C9orf72
26 motor peripheral neuropathy 9.5 SPG11 SETX
27 progressive muscular atrophy 9.5 VAPB UBQLN2 CHMP2B C9orf72
28 amyotrophic lateral sclerosis type 5 9.5 VAPB SPG11 SETX ALS2
29 dystonia 9.4 SETX CHMP2B C9orf72 ALS2
30 amyotrophic lateral sclerosis 19 9.3 UBQLN2 PRPH C9orf72 ALS2
31 motor neuron disease 9.3 VAPB SIGMAR1 SETX C9orf72 ALS2
32 aceruloplasminemia 9.3 SPG11 SETX C9orf72
33 spastic paraplegia 64, autosomal recessive 9.3 UBQLN2 SPG11 SIGMAR1 SETX ALS2
34 hereditary spastic paraplegia 9.2 UBQLN2 SPG11 SETX C9orf72 ALS2
35 hemochromatosis, type 1 9.1 VAPB SPG11 SETX C9orf72 ALS2
36 amyotrophic lateral sclerosis 9 9.0 VAPB UBQLN2 SPG11 SIGMAR1 SETX ALS2
37 amyotrophic lateral sclerosis 4, juvenile 8.9 VAPB UBQLN2 SPG11 SETX C9orf72 ALS2
38 spinocerebellar ataxia 2 8.9 VAPB UBQLN2 SPG11 SETX C9orf72 ALS2
39 amyotrophic lateral sclerosis 12 8.9 VAPB UBQLN2 SPG11 SETX CHMP2B ALS2
40 amyotrophic lateral sclerosis 20 8.9 SPG11 SIGMAR1 PRPH C9orf72 ALS2
41 amyotrophic lateral sclerosis 7 8.8 SPG11 SETX PRPH CHMP2B ALS2
42 amyotrophic lateral sclerosis type 6 8.7 VAPB UBQLN2 SPG11 SIGMAR1 SETX C9orf72
43 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 8.7 VAPB UBQLN2 SPG11 SIGMAR1 SETX C9orf72
44 amyotrophic lateral sclerosis 21 8.6 VAPB SPG11 SIGMAR1 SETX PRPH ALS2
45 amyotrophic lateral sclerosis 11 8.6 VAPB UBQLN2 SPG11 SIGMAR1 SETX CHMP2B
46 charcot-marie-tooth disease 8.5 VAPB SPG11 SETX PRPH C9orf72 ALS2
47 amyotrophic lateral sclerosis 16, juvenile 8.3 VAPB UBQLN2 SPG11 SIGMAR1 SETX CHMP2B
48 amyotrophic lateral sclerosis 8 8.3 VAPB UBQLN2 SPG11 SIGMAR1 SETX CHMP2B
49 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 8.3 VAPB UBQLN2 SPG11 SIGMAR1 SETX CHMP2B
50 amyotrophic lateral sclerosis type 14 8.1 VAPB UBQLN2 SIGMAR1 SETX PRPH CHMP2B

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 15:



Diseases related to Amyotrophic Lateral Sclerosis Type 15

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 15

UMLS symptoms related to Amyotrophic Lateral Sclerosis Type 15:


dystonia, athetosis

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 15

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 15

Genetic Tests for Amyotrophic Lateral Sclerosis Type 15

Anatomical Context for Amyotrophic Lateral Sclerosis Type 15

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis Type 15:

40
Salivary Gland, Endothelial, Bone, Brain

Publications for Amyotrophic Lateral Sclerosis Type 15

Articles related to Amyotrophic Lateral Sclerosis Type 15:

# Title Authors PMID Year
1
Salivary gland application of botulinum toxin for the treatment of sialorrhea. 61
17978775 2007
2
Update: cohort mortality study of workers highly exposed to polychlorinated biphenyls (PCBs) during the manufacture of electrical capacitors, 1940-1998. 61
16716225 2006
3
Frequency of motor neuron diseases in a Mexico City referral center. 61
9528303 1997
4
Elevated serum levels of endothelial leukocyte adhesion molecules in Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy. 61
7513983 1994

Variations for Amyotrophic Lateral Sclerosis Type 15

Expression for Amyotrophic Lateral Sclerosis Type 15

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 15.

Pathways for Amyotrophic Lateral Sclerosis Type 15

GO Terms for Amyotrophic Lateral Sclerosis Type 15

Cellular components related to Amyotrophic Lateral Sclerosis Type 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.46 UBQLN2 SPG11 SIGMAR1 C9orf72
2 postsynaptic density GO:0014069 9.43 SIGMAR1 CHMP2B ALS2
3 autophagosome GO:0005776 9.32 UBQLN2 C9orf72
4 axon GO:0030424 9.26 SPG11 SETX C9orf72 ALS2
5 growth cone GO:0030426 8.92 SIGMAR1 SETX C9orf72 ALS2

Biological processes related to Amyotrophic Lateral Sclerosis Type 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome organization GO:0007032 9.26 CHMP2B ALS2
2 axon extension GO:0048675 9.16 SPG11 C9orf72
3 autophagy GO:0006914 9.13 UBQLN2 CHMP2B C9orf72
4 regulation of autophagosome assembly GO:2000785 8.62 UBQLN2 C9orf72

Molecular functions related to Amyotrophic Lateral Sclerosis Type 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 8.62 C9orf72 ALS2

Sources for Amyotrophic Lateral Sclerosis Type 15

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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