ALS19
MCID: AMY059
MIFTS: 32

Amyotrophic Lateral Sclerosis 19 (ALS19)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 19

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 19:

Name: Amyotrophic Lateral Sclerosis 19 58 12 76 30 6 74
Als19 58 12 76
Amyotrophic Lateral Sclerosis Type 19 12 15
Sclerosis, Lateral, Amyotrophic, Type 19 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (range 45 to 70 years)


HPO:

33
amyotrophic lateral sclerosis 19:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060210
OMIM 58 615515
MeSH 45 D000690
SNOMED-CT via HPO 70 263681008 86044005
UMLS 74 C3715155

Summaries for Amyotrophic Lateral Sclerosis 19

UniProtKB/Swiss-Prot : 76 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 amyotrophic lateral sclerosis 1 and lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis 19 is ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are Cytokine Signaling in Immune system and ErbB signaling pathway. Affiliated tissues include brain and spinal cord, and related phenotypes are respiratory insufficiency due to muscle weakness and amyotrophic lateral sclerosis

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

Description from OMIM: 615515

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 19

Human phenotypes related to Amyotrophic Lateral Sclerosis 19:

33
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 33 HP:0002747
2 amyotrophic lateral sclerosis 33 HP:0007354
3 loss of ability to walk 33 HP:0006957

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ERBB4

Anatomical Context for Amyotrophic Lateral Sclerosis 19

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 19:

42
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 19

Articles related to Amyotrophic Lateral Sclerosis 19:

# Title Authors Year
1
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. ( 24119685 )
2013

Variations for Amyotrophic Lateral Sclerosis 19

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

76
# Symbol AA change Variation ID SNP ID
1 ERBB4 p.Arg927Gln VAR_070810 rs397514262
2 ERBB4 p.Arg1275Trp VAR_070811 rs397514263

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERBB4 NM_005235.2(ERBB4): c.2780G> A (p.Arg927Gln) single nucleotide variant Pathogenic rs397514262 GRCh37 Chromosome 2, 212288966: 212288966
2 ERBB4 NM_005235.2(ERBB4): c.2780G> A (p.Arg927Gln) single nucleotide variant Pathogenic rs397514262 GRCh38 Chromosome 2, 211424241: 211424241
3 ERBB4 NM_005235.2(ERBB4): c.3823C> T (p.Arg1275Trp) single nucleotide variant Pathogenic rs397514263 GRCh37 Chromosome 2, 212248444: 212248444
4 ERBB4 NM_005235.2(ERBB4): c.3823C> T (p.Arg1275Trp) single nucleotide variant Pathogenic rs397514263 GRCh38 Chromosome 2, 211383719: 211383719

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
12.61 CNTF ERBB4 NRG1
2
Show member pathways
11.96 ERBB4 NRG1
3
Show member pathways
11.67 ERBB4 NRG1
4 11.43 ERBB4 NRG1
5
Show member pathways
11.27 ERBB4 NRG1
6 11.12 ERBB4 NRG1
7
Show member pathways
10.99 ERBB4 NRG1
8 10.38 ERBB4 NRG1

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 9.16 CNTF NRG1
2 glutamatergic synapse GO:0098978 8.96 ERBB4 NRG1
3 GABA-ergic synapse GO:0098982 8.62 ERBB4 NRG1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.52 ERBB4 NRG1
2 MAPK cascade GO:0000165 9.51 ERBB4 NRG1
3 positive regulation of cell proliferation GO:0008284 9.5 CNTF ERBB4 NRG1
4 cell migration GO:0016477 9.49 ERBB4 NRG1
5 peptidyl-tyrosine phosphorylation GO:0018108 9.48 ERBB4 NRG1
6 positive regulation of protein kinase B signaling GO:0051897 9.46 ERBB4 NRG1
7 phosphatidylinositol phosphorylation GO:0046854 9.43 ERBB4 NRG1
8 nervous system development GO:0007399 9.43 CNTF ERBB4 NRG1
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.4 CNTF ERBB4
10 synapse assembly GO:0007416 9.37 ERBB4 NRG1
11 ERBB2 signaling pathway GO:0038128 9.16 ERBB4 NRG1
12 regulation of cell motility GO:2000145 8.96 ERBB4 NRG1
13 negative regulation of neuron migration GO:2001223 8.62 ERBB4 NRG1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.32 CNTF NRG1
2 growth factor activity GO:0008083 9.26 CNTF NRG1
3 protein tyrosine kinase activity GO:0004713 9.16 ERBB4 NRG1
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.96 ERBB4 NRG1
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.62 ERBB4 NRG1

Sources for Amyotrophic Lateral Sclerosis 19

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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