ALS19
MCID: AMY059
MIFTS: 37

Amyotrophic Lateral Sclerosis 19 (ALS19)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Amyotrophic Lateral Sclerosis 19

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 19:

Name: Amyotrophic Lateral Sclerosis 19 57 11 73 71
Amyotrophic Lateral Sclerosis Type 19 11 28 5 14
Als19 57 11 73
Sclerosis, Lateral, Amyotrophic, Type 19 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
adult onset (range 45 to 70 years)


Classifications:



External Ids:

Disease Ontology 11 DOID:0060210
OMIM® 57 615515
OMIM Phenotypic Series 57 PS105400
MeSH 43 D000690
SNOMED-CT via HPO 69 86044005
UMLS 71 C3715155

Summaries for Amyotrophic Lateral Sclerosis 19

UniProtKB/Swiss-Prot: 73 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 amyotrophic lateral sclerosis type 19, 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 Physico-chemical features and toxicity-associated pathways and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include spinal cord, brain and cortex, and related phenotypes are respiratory insufficiency due to muscle weakness and loss of ambulation

Disease Ontology: 11 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

Diseases related to Amyotrophic Lateral Sclerosis 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 28.4 UBQLN2 TARDBP SOD1 PRPH C9orf72 ALS2
2 amyotrophic lateral sclerosis 1 28.1 UBQLN2 TARDBP SOD1 PRPH ERBB4 C9orf72
3 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
4 tardive dyskinesia 10.1 SOD1 ERBB4
5 mixed cell adenoma 10.1 NRG1 ERBB4
6 postpoliomyelitis syndrome 10.1 SOD1 C9orf72
7 cone-rod dystrophy 2 10.0
8 childhood medulloblastoma 9.9 NRG1 ERBB4
9 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 9.9 SOD1 PRPH C9orf72
10 associative agnosia 9.9 TARDBP C9orf72
11 ideomotor apraxia 9.9 TARDBP C9orf72
12 alexia 9.8 TARDBP C9orf72
13 agraphia 9.8 TARDBP C9orf72
14 nominal aphasia 9.8 TARDBP C9orf72
15 aphasia 9.8 TARDBP C9orf72
16 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 9.8 TARDBP C9orf72
17 amyotrophic lateral sclerosis 2, juvenile 9.8 SOD1 ALS2
18 prosopagnosia 9.8 TARDBP C9orf72
19 dysgraphia 9.8 TARDBP C9orf72
20 writing disorder 9.8 TARDBP C9orf72
21 amyotrophic lateral sclerosis 21 9.8 SOD1 PRPH ALS2
22 epilepsy, idiopathic generalized 2 9.8 TARDBP C9orf72
23 distal hereditary motor neuronopathy type 7 9.7 TARDBP ALS2
24 giant axonal neuropathy 2 9.7 UBQLN2 TARDBP SOD1
25 psychotic disorder 9.7 NRG1 GRM7 ERBB4
26 pseudobulbar palsy 9.7 TARDBP SOD1 C9orf72
27 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.7 TARDBP SOD1 C9orf72
28 fatal familial insomnia 9.7 TARDBP SOD1 C9orf72
29 spinal and bulbar muscular atrophy, x-linked 1 9.7 TARDBP SOD1 C9orf72
30 multisystem proteinopathy 9.7 UBQLN2 TARDBP C9orf72
31 neuronopathy, distal hereditary motor, type viib 9.7 TARDBP ALS2
32 perry syndrome 9.7 UBQLN2 TARDBP C9orf72
33 dementia, lewy body 9.7 TARDBP SOD1 C9orf72
34 paget's disease of bone 9.7 UBQLN2 TARDBP C9orf72
35 cerebellar disease 9.7 TARDBP SOD1 C9orf72
36 creutzfeldt-jakob disease 9.6 TARDBP SOD1 C9orf72
37 amyotrophic lateral sclerosis type 14 9.6 UBQLN2 SOD1 C9orf72 ALS2
38 amyotrophic lateral sclerosis type 15 9.6 UBQLN2 SOD1 C9orf72 ALS2
39 amyotrophic lateral sclerosis 18 9.6 UBQLN2 SOD1 C9orf72 ALS2
40 progressive bulbar palsy 9.6 UBQLN2 SOD1 C9orf72 ALS2
41 amyotrophic lateral sclerosis 16, juvenile 9.6 UBQLN2 SOD1 C9orf72 ALS2
42 locked-in syndrome 9.6 TARDBP SOD1 ALS2
43 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 9.6 TARDBP PRPH C9orf72
44 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 9.6 TARDBP PRPH C9orf72
45 neuronal ceroid lipofuscinosis 9.6 TARDBP SOD1 C9orf72
46 movement disease 9.6 TARDBP SOD1 C9orf72
47 dementia 9.5 UBQLN2 TARDBP SOD1 C9orf72
48 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.5 UBQLN2 TARDBP SOD1 C9orf72
49 supranuclear palsy, progressive, 1 9.5 UBQLN2 TARDBP SOD1 C9orf72
50 pick disease of brain 9.5 UBQLN2 TARDBP SOD1 C9orf72

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 30 Very rare (1%) HP:0002747
2 loss of ambulation 30 Very rare (1%) HP:0002505
3 amyotrophic lateral sclerosis 30 HP:0007354

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 19:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 ALS2 C9orf72 ERBB4 GRM7 NRG1 PRPH
2 muscle MP:0005369 9.1 ALS2 ERBB4 GRM7 NRG1 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 Type 19 28 ERBB4

Anatomical Context for Amyotrophic Lateral Sclerosis 19

Organs/tissues related to Amyotrophic Lateral Sclerosis 19:

MalaCards : Spinal Cord, Brain, Cortex
ODiseA: Brain-Cortex, Brain, Spinal Cord

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. 62 57 5
24119685 2013
2
Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis. 62
35006266 2022
3
Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS. 62
31124187 2019
4
Validation of a semiautomated spinal cord segmentation method. 62
24436309 2015
5
Preceding infections and anti-ganglioside antibody profiles assessed by a dot immunoassay in 306 French Guillain-Barré syndrome patients. 62
21516465 2011
6
Agreement among three quality of life measures in patients with ALS. 62
11465020 2000

Variations for Amyotrophic Lateral Sclerosis 19

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 19:

5 (show all 11)
# 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.3334C>T (p.Arg1112Cys) SNV Likely Pathogenic
873194 rs144311212 GRCh37: 2:212251725-212251725
GRCh38: 2:211387000-211387000
4 ERBB4 NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn) SNV Likely Pathogenic
801872 rs1574867228 GRCh37: 2:212483996-212483996
GRCh38: 2:211619271-211619271
5 ERBB4 NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met) SNV Uncertain Significance
1030895 rs374970657 GRCh37: 2:212488657-212488657
GRCh38: 2:211623932-211623932
6 ERBB4 NM_005235.3(ERBB4):c.2443A>G (p.Ile815Val) SNV Uncertain Significance
1333937 GRCh37: 2:212426672-212426672
GRCh38: 2:211561947-211561947
7 ERBB4 NM_005235.3(ERBB4):c.508C>T (p.Pro170Ser) SNV Uncertain Significance
1333938 GRCh37: 2:212652798-212652798
GRCh38: 2:211788073-211788073
8 ERBB4 NM_005235.3(ERBB4):c.3305T>C (p.Phe1102Ser) SNV Uncertain Significance
1683524 GRCh37: 2:212251754-212251754
GRCh38: 2:211387029-211387029
9 ERBB4 NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) SNV Benign
770696 rs76603692 GRCh37: 2:212576777-212576777
GRCh38: 2:211712052-211712052
10 ERBB4 NM_005235.3(ERBB4):c.1490-15T>C SNV Benign
1210000 GRCh37: 2:212543924-212543924
GRCh38: 2:211679199-211679199
11 ERBB4 NM_005235.3(ERBB4):c.884-7del DEL Benign
769264 rs67894136 GRCh37: 2:212578380-212578380
GRCh38: 2:211713655-211713655

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

73
# 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 11.07 SOD1 ERBB4
2 10.91 NRG1 ERBB4
3 10.71 NRG1 ERBB4
4 10.36 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 9.17 PRPH NRG1 GRM7 C9orf72 ALS2
2 obsolete integral component of postsynaptic density membrane GO:0099061 8.96 NRG1 ERBB4

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

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.65 SOD1 NRG1 ALS2
2 regulation of autophagosome assembly GO:2000785 9.62 UBQLN2 C9orf72
3 behavioral fear response GO:0001662 9.58 GRM7 ALS2
4 positive regulation of cardiac muscle cell proliferation GO:0060045 9.54 NRG1 ERBB4
5 ERBB4-ERBB4 signaling pathway GO:0038138 9.46 NRG1 ERBB4
6 ERBB2-ERBB4 signaling pathway GO:0038135 9.26 NRG1 ERBB4
7 ERBB4 signaling pathway GO:0038130 8.92 NRG1 ERBB4

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

# Name GO ID Score Top Affiliating Genes
1 molecular condensate scaffold activity GO:0140693 9.26 UBQLN2 TARDBP
2 protein tyrosine kinase activator activity GO:0030296 8.92 NRG1 ERBB4

Sources for Amyotrophic Lateral Sclerosis 19

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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