ALS3
MCID: AMY088
MIFTS: 31

Amyotrophic Lateral Sclerosis 3 (ALS3)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 3

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 3:

Name: Amyotrophic Lateral Sclerosis 3 58 12 54 13 74
Amyotrophic Lateral Sclerosis Type 3 12 54 15
Als3 58 12 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 45 years of age
mean duration 5 years
based on a report of 1 large european family (last curated january 2002)


HPO:

33
amyotrophic lateral sclerosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060195
OMIM 58 606640
MedGen 43 C1847735
SNOMED-CT via HPO 70 249945007 263681008
UMLS 74 C1847735

Summaries for Amyotrophic Lateral Sclerosis 3

OMIM : 58 ALS is a degenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure usually within 3 to 5 years of symptom onset (Brown, 1995). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). (606640)

MalaCards based summary : Amyotrophic Lateral Sclerosis 3, also known as amyotrophic lateral sclerosis type 3, is related to amyotrophic lateral sclerosis 1 and frontotemporal dementia and/or amyotrophic lateral sclerosis 3. An important gene associated with Amyotrophic Lateral Sclerosis 3 is ALS3 (Amyotrophic Lateral Sclerosis 3 (Autosomal Dominant)). The drugs Aluminum hydroxide and Anti-Ulcer Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cortex and colon, and related phenotypes are bulbar signs and lower limb muscle weakness

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in loci on chromosome 18.

Related Diseases for Amyotrophic Lateral Sclerosis 3

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 3:



Diseases related to Amyotrophic Lateral Sclerosis 3

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 3

Human phenotypes related to Amyotrophic Lateral Sclerosis 3:

33
# Description HPO Frequency HPO Source Accession
1 bulbar signs 33 HP:0002483
2 lower limb muscle weakness 33 HP:0007340

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
no dementia
bulbar dysfunction
progressive weakness of upper and lower limbs
upper and lower motor neuron signs
diffuse denervation seen of emg
more

Clinical features from OMIM:

606640

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 3

Drugs for Amyotrophic Lateral Sclerosis 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 2,Phase 1 21645-51-2
2 Anti-Ulcer Agents Phase 2,Phase 1
3 Vaccines Phase 2,Phase 1
4 Adjuvants, Immunologic Phase 2,Phase 1
5 Immunologic Factors Phase 2,Phase 1
6 Antacids Phase 2,Phase 1
7 Gastrointestinal Agents Phase 2,Phase 1
8 Antibodies Phase 2
9 Agglutinins Phase 2
10 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of NDV-3A Vaccine in Preventing S. Aureus Colonization Active, not recruiting NCT03455309 Phase 2
2 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 Safety, Tolerability, Immunogenicity and Efficacy of NDV-3A Vaccine in Preventing Recurrent Vulvovaginal Candidiasis Completed NCT01926028 Phase 1, Phase 2

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 3

Genetic Tests for Amyotrophic Lateral Sclerosis 3

Anatomical Context for Amyotrophic Lateral Sclerosis 3

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 3:

42
Spinal Cord, Cortex, Colon

Publications for Amyotrophic Lateral Sclerosis 3

Variations for Amyotrophic Lateral Sclerosis 3

Expression for Amyotrophic Lateral Sclerosis 3

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 3.

Pathways for Amyotrophic Lateral Sclerosis 3

GO Terms for Amyotrophic Lateral Sclerosis 3

Biological processes related to Amyotrophic Lateral Sclerosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization GO:0008104 9.16 ALS2 SQSTM1
2 endosomal transport GO:0016197 8.96 ALS2 SQSTM1
3 endosome organization GO:0007032 8.62 ALS2 SQSTM1

Sources for Amyotrophic Lateral Sclerosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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