ALS21
MCID: AMY069
MIFTS: 38

Amyotrophic Lateral Sclerosis 21 (ALS21) malady

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 21

Aliases & Descriptions for Amyotrophic Lateral Sclerosis 21:

Name: Amyotrophic Lateral Sclerosis 21 54 66 69
Distal Myopathy with Vocal Cord Weakness 56 66
Amyotrophic Lateral Sclerosis Type 21 12 14
Als21 12 66
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy 66
Myopathy, Distal 2 69
Distal Myopathy 2 66
Vcpdm 66
Mpd2 66

Characteristics:

Orphanet epidemiological data:

56
distal myopathy with vocal cord weakness
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

HPO:

32
amyotrophic lateral sclerosis 21:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity adult onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 606070
Disease Ontology 12 DOID:0060212
Orphanet 56 ORPHA600
ICD10 via Orphanet 34 G71.0
MedGen 40 C1853723
MeSH 42 D000690

Summaries for Amyotrophic Lateral Sclerosis 21

OMIM : 54 Amyotrophic lateral sclerosis-21 is an autosomal dominant neurodegenerative disorder affecting upper and lower motor... (606070) more...

MalaCards based summary : Amyotrophic Lateral Sclerosis 21, also known as distal myopathy with vocal cord weakness, is related to distal myopathy with vocal cord weakness and amyotrophic lateral sclerosis 1, and has symptoms including dysarthria, hyperreflexia and dysphagia. An important gene associated with Amyotrophic Lateral Sclerosis 21 is MATR3 (Matrin 3). The drugs Deferiprone and Iron have been mentioned in the context of this disorder. Related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the MATR3 gene on chromosome 5.

UniProtKB/Swiss-Prot : 66 Amyotrophic lateral sclerosis 21: A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.

Related Diseases for Amyotrophic Lateral Sclerosis 21

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 2, Juvenile Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 21
Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile Amyotrophic Lateral Sclerosis 12
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 9
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 7
Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 1
Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 10
Amyotrophic Lateral Sclerosis Type 14 Tardbp-Related Amyotrophic Lateral Sclerosis
Als5-Related Amyotrophic Lateral Sclerosis Erbb4-Related Amyotrophic Lateral Sclerosis
Hnrnpa1-Related Amyotrophic Lateral Sclerosis Ang-Related Amyotrophic Lateral Sclerosis
Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis Fig4-Related Amyotrophic Lateral Sclerosis
Fus-Related Amyotrophic Lateral Sclerosis Optn-Related Amyotrophic Lateral Sclerosis
Pfn1-Related Amyotrophic Lateral Sclerosis Setx-Related Amyotrophic Lateral Sclerosis
Sigmar1-Related Amyotrophic Lateral Sclerosis Sod1-Related Amyotrophic Lateral Sclerosis
Sqstm1-Related Amyotrophic Lateral Sclerosis Vapb-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
id Related Disease Score Top Affiliating Genes
1 distal myopathy with vocal cord weakness 12.4
2 amyotrophic lateral sclerosis 1 10.9
3 cerebroretinal vasculopathy 10.1 C9orf72 VCP
4 autotopagnosia 10.0 C9orf72 SETX
5 pericardial tuberculosis 10.0 TARDBP VCP
6 adrenal cortical adenoma 10.0 TARDBP VCP
7 kallmann syndrome 3 10.0 FUS SETX
8 myoclonic cerebellar dyssynergia 10.0 FUS TARDBP
9 cerebral arteritis 9.9 FUS TARDBP
10 systemic lupus erythematous, association with 6 9.9 FUS TARDBP
11 spinal cord glioma 9.9 C9orf72 TARDBP
12 keratoconus 6 9.9 FUS TARDBP
13 hypoproteinemia, hypercatabolic 9.9 C9orf72 TARDBP
14 colorado tick fever 9.9 FUS TARDBP
15 postauricular lymphadenitis 9.9 FUS TARDBP
16 mitochondrial dna depletion syndrome 3 9.9 C9orf72 TARDBP
17 severe congenital nemaline myopathy 9.8 C9orf72 TARDBP VCP
18 andersen syndrome 9.8 C9orf72 TARDBP VCP
19 lissencephaly 6, with microcephaly 9.8 FUS SETX TARDBP
20 chorioamnionitis 9.8 C9orf72 SOD1 TARDBP
21 autoimmune disease of urogenital tract 9.7 C9orf72 TARDBP
22 amyotrophic lateral sclerosis 10, with or without ftd 9.7 FUS OPTN TARDBP
23 adult mesenchymal chondrosarcoma 9.6 C9orf72 FUS TARDBP VCP
24 pancreatic cancer/melanoma syndrome 9.6 C9orf72 FUS TARDBP VCP
25 pancreatic solid pseudopapillary carcinoma 9.6 C9orf72 FUS TARDBP VCP
26 eumycotic mycetoma 9.6 C9orf72 FUS TARDBP VCP
27 osteogenesis imperfecta, type vi 9.6 C9orf72 FUS SOD1 TARDBP
28 polymicrogyria, bilateral temporooccipital 9.6 FUS OPTN SETX TARDBP
29 cogan syndrome 9.6 FUS OPTN SETX TARDBP
30 retinitis pigmentosa 46 9.6 FUS OPTN SETX TARDBP
31 autism 18 9.6 FUS OPTN SETX TARDBP
32 substance-induced psychosis 9.5 C9orf72 OPTN SOD1 TARDBP
33 cogan-reese syndrome 9.5 FUS OPTN TARDBP VAPB VCP
34 cardiomyopathy, dilated, 1u 9.4 C9orf72 FUS SOD1 TARDBP VCP
35 mucopolysaccharidosis iv 9.4 C9orf72 SETX SOD1 TARDBP VAPB VCP
36 sting-associated vasculopathy, infantile-onset 8.8 C9orf72 FUS MATR3 OPTN SETX SOD1
37 stereotypic movement disorder 8.8 C9orf72 FUS MATR3 OPTN SETX SOD1
38 long qt syndrome 5 8.8 C9orf72 FUS MATR3 OPTN SETX SOD1

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 21:



Diseases related to Amyotrophic Lateral Sclerosis 21

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 21

Symptoms by clinical synopsis from OMIM:

606070

Clinical features from OMIM:

606070

Human phenotypes related to Amyotrophic Lateral Sclerosis 21:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 hyperreflexia 32 HP:0001347
3 dysphagia 32 HP:0002015
4 respiratory insufficiency due to muscle weakness 32 HP:0002747
5 elevated serum creatine phosphokinase 32 HP:0003236
6 decreased nerve conduction velocity 32 HP:0000762
7 amyotrophic lateral sclerosis 32 HP:0007354
8 dementia 32 HP:0000726
9 hoarse voice 32 HP:0001609
10 aspiration 32 HP:0002835
11 distal muscle weakness 32 HP:0002460
12 abnormal lower motor neuron morphology 32 HP:0002366
13 rimmed vacuoles 32 HP:0003805
14 bulbar palsy 32 HP:0001283
15 distal sensory impairment 32 HP:0002936
16 abnormal upper motor neuron morphology 32 HP:0002127
17 shoulder girdle muscle weakness 32 HP:0003547
18 abnormality of the nasopharynx 32 HP:0001739
19 bowing of the vocal cords 32 HP:0008756
20 bulbar signs 32 HP:0002483

UMLS symptoms related to Amyotrophic Lateral Sclerosis 21:


upper motor neuron signs

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 MATR3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.66 SOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.66 SOD1 MATR3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 MATR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.66 MATR3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.66 VCP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.66 VCP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.66 VCP MATR3 SOD1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.66 VCP
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 MATR3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.66 SOD1 VCP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.66 SOD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.66 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.66 SOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.66 SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.66 SOD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.66 VCP
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 MATR3

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 21:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.5 C9orf72 MATR3 SETX SOD1 TARDBP VAPB
2 immune system MP:0005387 9.1 OPTN SETX SOD1 TARDBP VCP C9orf72

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 21

Drugs for Amyotrophic Lateral Sclerosis 21 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 2 30652-11-0 2972
2
Iron Approved Phase 2 7439-89-6 23925
3
Riluzole Approved, Investigational Phase 2 1744-22-5 5070
4
Basiliximab Approved, Investigational Phase 2 152923-56-3, 179045-86-4
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
7
Mycophenolic acid Approved Phase 2 24280-93-1 446541
8
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
10
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
11 Chelating Agents Phase 2
12 Iron Chelating Agents Phase 2
13 Anti-Bacterial Agents Phase 2
14 Antibiotics, Antitubercular Phase 2
15 Antiemetics Phase 2
16 Anti-Inflammatory Agents Phase 2
17 Antineoplastic Agents, Hormonal Phase 2
18 Autonomic Agents Phase 2
19 Calcineurin Inhibitors Phase 2
20 Gastrointestinal Agents Phase 2
21 glucocorticoids Phase 2
22 Hormone Antagonists Phase 2
23 Hormones Phase 2
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
25 Immunosuppressive Agents Phase 2
26 Methylprednisolone acetate Phase 2
27 Methylprednisolone Hemisuccinate Phase 2
28 Neuroprotective Agents Phase 2
29 Peripheral Nervous System Agents Phase 2
30 Prednisolone acetate Phase 2
31 Prednisolone hemisuccinate Phase 2
32 Prednisolone phosphate Phase 2
33 Protective Agents Phase 2,Phase 1
34
Caffeic acid Experimental Phase 1 331-39-5 1549111
35 Antioxidants Phase 1
36
Choline Approved, Nutraceutical 62-49-7 305
37
Creatine Approved, Nutraceutical 57-00-1 586
38 N-Methylaspartate
39 Aspartic Acid Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Focal Accumulation of Iron in Cerebral Regions in Early ALS (Amyotrophic Lateral Sclerosis) Patients Completed NCT02164253 Phase 2
2 Dose Titration Study to Test Safety and Effects of CK-2017357 in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01486849 Phase 2
3 Immunosuppression in Amyotrophic Lateral Sclerosis (ALS) Completed NCT01884571 Phase 2
4 P300 Brain Computer Interface Keyboard to Operate Assistive Technology Completed NCT00860951 Phase 1, Phase 2
5 Safety Study of VM202 to Treat Amyotrophic Lateral Sclerosis Active, not recruiting NCT02039401 Phase 1, Phase 2
6 CC100: Phase 1 Multiple-Dose Safety and Tolerability in Subjects With ALS Recruiting NCT03049046 Phase 1
7 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
8 A P300 Brain Computer Interface to Operate Power Wheelchair Tilt Completed NCT01123148
9 DESIPHER_Speech Degradation as an Indicator of Physiological Degeneration in ALS Recruiting NCT02675075
10 Spinal Interneuron Excitability in ALS Not yet recruiting NCT02429492

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 21

Genetic Tests for Amyotrophic Lateral Sclerosis 21

Anatomical Context for Amyotrophic Lateral Sclerosis 21

Publications for Amyotrophic Lateral Sclerosis 21

Variations for Amyotrophic Lateral Sclerosis 21

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 21:

66
id Symbol AA change Variation ID SNP ID
1 MATR3 p.Ser85Cys VAR_063421 rs121434591
2 MATR3 p.Phe115Cys VAR_071078 rs587777300
3 MATR3 p.Thr622Ala VAR_071080 rs587777301

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 21:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MATR3 NM_018834.5(MATR3): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434591 GRCh37 Chromosome 5, 138643358: 138643358
2 MATR3 NM_199189.2(MATR3): c.344T> G (p.Phe115Cys) single nucleotide variant Pathogenic rs587777300 GRCh38 Chromosome 5, 139307759: 139307759
3 MATR3 NM_199189.2(MATR3): c.1864A> G (p.Thr622Ala) single nucleotide variant Pathogenic rs587777301 GRCh38 Chromosome 5, 139322683: 139322683
4 MATR3 NM_199189.2(MATR3): c.460C> T (p.Pro154Ser) single nucleotide variant Pathogenic rs587777302 GRCh38 Chromosome 5, 139307875: 139307875

Expression for Amyotrophic Lateral Sclerosis 21

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 21.

Pathways for Amyotrophic Lateral Sclerosis 21

GO Terms for Amyotrophic Lateral Sclerosis 21

Cellular components related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 FUS OPTN SETX SOD1 TARDBP VCP
2 nucleus GO:0005634 9.56 C9orf72 FUS MATR3 OPTN SETX SOD1
3 cytoplasm GO:0005737 9.23 C9orf72 FUS OPTN SETX SOD1 TARDBP
4 autophagosome GO:0005776 9.16 C9orf72 OPTN

Biological processes related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 9.16 SETX VCP
2 endoplasmic reticulum unfolded protein response GO:0030968 8.96 VAPB VCP
3 autophagy GO:0006914 8.8 C9orf72 OPTN VCP

Molecular functions related to Amyotrophic Lateral Sclerosis 21 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.81 C9orf72 FUS MATR3 OPTN SETX SOD1
2 identical protein binding GO:0042802 9.1 FUS OPTN SETX SOD1 TARDBP VCP
3 polyubiquitin binding GO:0031593 8.96 OPTN VCP

Sources for Amyotrophic Lateral Sclerosis 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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