ALS19
MCID: AMY059
MIFTS: 35

Amyotrophic Lateral Sclerosis 19 (ALS19)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 19

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 19:

Name: Amyotrophic Lateral Sclerosis 19 57 12 72 29 6 70
Als19 57 12 72
Amyotrophic Lateral Sclerosis Type 19 12 15
Sclerosis, Lateral, Amyotrophic, Type 19 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (range 45 to 70 years)


HPO:

31
amyotrophic lateral sclerosis 19:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060210
OMIM® 57 615515
OMIM Phenotypic Series 57 PS105400
MeSH 44 D000690
SNOMED-CT via HPO 68 263681008 86044005
UMLS 70 C3715155

Summaries for Amyotrophic Lateral Sclerosis 19

UniProtKB/Swiss-Prot : 72 Amyotrophic lateral sclerosis 19: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 19, also known as als19, is related to lateral sclerosis and amyotrophic lateral sclerosis 1. An important gene associated with Amyotrophic Lateral Sclerosis 19 is ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Affiliated tissues include spinal cord, bone and brain, and related phenotypes are respiratory insufficiency due to muscle weakness and loss of ability to walk

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the ERBB4 gene on chromosome 2.

More information from OMIM: 615515 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 19

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 16, Juvenile 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 12
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 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 28.2 UBQLN2 TARDBP SOD1 PRPH MATR3 ERBB4
2 amyotrophic lateral sclerosis 1 27.5 UBQLN2 TARDBP SOD1 PRPH NRG1 MATR3
3 amyotrophic lateral sclerosis type 14 10.1 UBQLN2 ALS2
4 amyotrophic lateral sclerosis 7 10.1 PRPH ALS2
5 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.0 PRPH MATR3
6 amyotrophic lateral sclerosis type 22 10.0 TARDBP PRPH
7 progressive bulbar palsy 10.0 SOD1 ALS2
8 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.0 TARDBP PRPH
9 distal hereditary motor neuronopathy type 7 10.0 TARDBP ALS2
10 amyotrophic lateral sclerosis type 5 9.9 SOD1 ALS2
11 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 9.9 TARDBP PRPH
12 neuronopathy, distal hereditary motor, type viib 9.9 TARDBP ALS2
13 locked-in syndrome 9.9 TARDBP SOD1
14 amyotrophic lateral sclerosis type 15 9.9 UBQLN2 PRPH ALS2
15 amyotrophic lateral sclerosis 18 9.9 UBQLN2 PRPH ALS2
16 amyotrophic lateral sclerosis 16, juvenile 9.9 UBQLN2 PRPH ALS2
17 ophthalmomyiasis 9.9 TARDBP SOD1
18 amyotrophic lateral sclerosis 11 9.9 TARDBP ALS2
19 amyotrophic lateral sclerosis 2, juvenile 9.9 SOD1 ALS2
20 alzheimer disease 7 9.9 TARDBP SOD1
21 mixed cell adenoma 9.9 NRG1 ERBB4
22 amyotrophic lateral sclerosis 9 9.8 UBQLN2 SOD1 ALS2
23 amyotrophic lateral sclerosis 21 9.8 PRPH MATR3 ALS2
24 frontotemporal dementia 9.8 UBQLN2 TARDBP SOD1
25 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.8 TARDBP SOD1
26 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.8 UBQLN2 TARDBP
27 giant axonal neuropathy 2 9.8 UBQLN2 TARDBP SOD1
28 progressive muscular atrophy 9.8 UBQLN2 TARDBP SOD1
29 multisystem proteinopathy 9.8 UBQLN2 TARDBP MATR3
30 dermatopathia pigmentosa reticularis 9.7 UBQLN2 TARDBP SOD1
31 spinal and bulbar muscular atrophy, x-linked 1 9.7 TARDBP SOD1
32 pick disease of brain 9.7 UBQLN2 TARDBP SOD1
33 spinal muscular atrophy 9.7 TARDBP SOD1 MATR3
34 autosomal dominant cerebellar ataxia 9.6 UBQLN2 TARDBP SOD1
35 supranuclear palsy, progressive, 1 9.6 TARDBP SOD1
36 amyotrophic lateral sclerosis 20 9.6 SOD1 PRPH MATR3 ALS2
37 spinal muscular atrophy, distal, autosomal recessive, 4 9.5 UBQLN2 TARDBP SOD1 ALS2
38 amyotrophic lateral sclerosis type 12 9.5 UBQLN2 TARDBP SOD1 ALS2
39 amyotrophic lateral sclerosis 8 9.5 UBQLN2 TARDBP SOD1 ALS2
40 amyotrophic lateral sclerosis 4, juvenile 9.5 UBQLN2 TARDBP SOD1 ALS2
41 motor neuron disease 9.5 UBQLN2 TARDBP SOD1 ALS2
42 neuromuscular disease 9.3 TARDBP SOD1 NRG1 ALS2
43 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.3 UBQLN2 TARDBP SOD1 MATR3 ALS2
44 amyotrophic lateral sclerosis type 6 9.2 UBQLN2 TARDBP SOD1 MATR3 ALS2
45 spinocerebellar ataxia 2 9.2 UBQLN2 TARDBP SOD1 MATR3 ALS2
46 charcot-marie-tooth disease 9.2 SOD1 PRPH NRG1 ALS2
47 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.2 UBQLN2 TARDBP SOD1 MATR3 ALS2
48 disease of mental health 8.6 UBQLN2 TARDBP SOD1 NRG1 MATR3 ERBB4

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 19:



Diseases related to Amyotrophic Lateral Sclerosis 19

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 19

Human phenotypes related to Amyotrophic Lateral Sclerosis 19:

31
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 31 HP:0002747
2 loss of ability to walk 31 HP:0006957
3 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Central Nervous System:
loss of ability to walk
upper motor neuron degeneration
lower motor neuron degeneration

Clinical features from OMIM®:

615515 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 19:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ALS2 ERBB4 MATR3 SOD1 TARDBP

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 19

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 19

Genetic Tests for Amyotrophic Lateral Sclerosis 19

Genetic tests related to Amyotrophic Lateral Sclerosis 19:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 19 29 ERBB4

Anatomical Context for Amyotrophic Lateral Sclerosis 19

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 19:

40
Spinal Cord, Bone, Brain

Publications for Amyotrophic Lateral Sclerosis 19

Articles related to Amyotrophic Lateral Sclerosis 19:

# Title Authors PMID Year
1
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. 57 6
24119685 2013
2
Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS. 61
31124187 2019
3
Validation of a semiautomated spinal cord segmentation method. 61
24436309 2015
4
Preceding infections and anti-ganglioside antibody profiles assessed by a dot immunoassay in 306 French Guillain-Barré syndrome patients. 61
21516465 2011
5
Agreement among three quality of life measures in patients with ALS. 61
11465020 2000

Variations for Amyotrophic Lateral Sclerosis 19

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERBB4 NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) SNV Pathogenic 64625 rs397514262 GRCh37: 2:212288966-212288966
GRCh38: 2:211424241-211424241
2 ERBB4 NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) SNV Pathogenic 64626 rs397514263 GRCh37: 2:212248444-212248444
GRCh38: 2:211383719-211383719
3 ERBB4 NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn) SNV Likely pathogenic 801872 rs1574867228 GRCh37: 2:212483996-212483996
GRCh38: 2:211619271-211619271
4 ERBB4 NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys) SNV Likely pathogenic 873194 GRCh37: 2:212251725-212251725
GRCh38: 2:211387000-211387000
5 ERBB4 NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met) SNV Uncertain significance 1030895 GRCh37: 2:212488657-212488657
GRCh38: 2:211623932-211623932

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 19:

72
# Symbol AA change Variation ID SNP ID
1 ERBB4 p.Arg927Gln VAR_070810 rs397514262
2 ERBB4 p.Arg1275Trp VAR_070811 rs397514263

Expression for Amyotrophic Lateral Sclerosis 19

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 19.

Pathways for Amyotrophic Lateral Sclerosis 19

Pathways related to Amyotrophic Lateral Sclerosis 19 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 UBQLN2 TARDBP SOD1 PRPH NRG1 MATR3
2 11.09 SOD1 ERBB4
3 10.91 NRG1 ERBB4
4 10.71 SOD1 PRPH ALS2

GO Terms for Amyotrophic Lateral Sclerosis 19

Cellular components related to Amyotrophic Lateral Sclerosis 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.33 PRPH NRG1 ALS2
2 GABA-ergic synapse GO:0098982 8.96 NRG1 ERBB4
3 integral component of postsynaptic density membrane GO:0099061 8.62 NRG1 ERBB4

Biological processes related to Amyotrophic Lateral Sclerosis 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse assembly GO:0007416 9.4 NRG1 ERBB4
2 positive regulation of protein kinase activity GO:0045860 9.37 NRG1 ALS2
3 positive regulation of cardiac muscle cell proliferation GO:0060045 9.32 NRG1 ERBB4
4 regulation of cell motility GO:2000145 9.26 NRG1 ERBB4
5 ERBB2 signaling pathway GO:0038128 9.16 NRG1 ERBB4
6 negative regulation of neuron migration GO:2001223 8.96 NRG1 ERBB4
7 locomotory behavior GO:0007626 8.8 SOD1 NRG1 ALS2

Molecular functions related to Amyotrophic Lateral Sclerosis 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 UBQLN2 TARDBP SOD1 MATR3 ALS2

Sources for Amyotrophic Lateral Sclerosis 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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