Amyotrophic Lateral Sclerosis 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ¹² ⁷⁵ ²⁹ ⁶ ⁷³

Als19 ⁵⁷ ¹² ⁷⁵

Amyotrophic Lateral Sclerosis Type 19 ¹² ¹⁵

Sclerosis, Lateral, Amyotrophic, Type 19 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
adult onset (range 45 to 70 years)

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615515

Disease Ontology ¹² DOID:0060210

MedGen ⁴² C3715155 CN181216

MeSH ⁴⁴ D000690

SNOMED-CT via HPO ⁶⁹ 263681008 86044005

UMLS ⁷³ C3715155

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Summaries for Amyotrophic Lateral Sclerosis 19

UniProtKB/Swiss-Prot : ⁷⁵ 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 Cytokine Signaling in Immune system and Signaling by ERBB2. Affiliated tissues include brain and spinal cord, 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.

Description from OMIM: 615515

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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 12	Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17	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 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:

#	Related Disease	Score	Top Affiliating Genes
1	lateral sclerosis	28.8	ALS2 ERBB4
2	amyotrophic lateral sclerosis 1	27.9	ALS2 CNTF ERBB4
3	motor neuron disease	9.1	ALS2 CNTF

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Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 19

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
respiratory insufficiency due to muscle weakness

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

Clinical features from OMIM:

615515

Human phenotypes related to Amyotrophic Lateral Sclerosis 19:

³²

#	Description	HPO Source Accession
1	respiratory insufficiency due to muscle weakness ³²	HP:0002747
2	loss of ability to walk ³²	HP:0006957
3	amyotrophic lateral sclerosis ³²	HP:0007354

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Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 19

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

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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

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Anatomical Context for Amyotrophic Lateral Sclerosis 19

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 19:

⁴¹

Brain, Spinal Cord

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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 )	Takahashi Y....Tsuji S.	2013

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Genes for Amyotrophic Lateral Sclerosis 19

Genes related to Amyotrophic Lateral Sclerosis 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1334.02	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24119685 20301623
2	ALS2	ALS2, Alsin Rho Guanine Nucleotide Exchange Factor	Protein Coding	16.36	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CNTF	Ciliary Neurotrophic Factor	Protein Coding	14.23	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	NRG1	Neuregulin 1	Protein Coding	14.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Amyotrophic Lateral Sclerosis 19

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

⁷⁵

#	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

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Expression for Amyotrophic Lateral Sclerosis 19

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

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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	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	12.65	CNTF ERBB4 NRG1
2	Signaling by ERBB2 ⁶⁶ Show member pathways Downregulation of ERBB2 signaling ⁶⁶ Downregulation of ERBB2-ERBB3 signaling ⁶⁶ ERBB2 Activates PTK6 Signaling ⁶⁶ ERBB2 Regulates Cell Motility ⁶⁶ GRB2 events in ERBB2 signaling ⁶⁶ GRB7 events in ERBB2 signaling ⁶⁶ PI3K events in ERBB2 signaling ⁶⁶ PI3K events in ERBB4 signaling ⁶⁶ PLCG1 events in ERBB2 signaling ⁶⁶ SHC1 events in ERBB2 signaling ⁶⁶ SHC1 events in ERBB4 signaling ⁶⁶	11.64	ERBB4 NRG1
3	Tyrosine Kinases / Adaptors ⁴	11.43	ERBB4 NRG1
4	Signaling by PTK6 ⁶⁶ Show member pathways PTK6 Activates STAT3 ⁶⁶ PTK6 Down-Regulation ⁶⁶ PTK6 Expression ⁶⁶ PTK6 promotes HIF1A stabilization ⁶⁶ PTK6 Regulates Proteins Involved in RNA Processing ⁶⁶ PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases ⁶⁶ PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 ⁶⁶ RAS signaling downstream of NF1 loss-of-function variants ⁶⁶	11.27	ERBB4 NRG1
5	Signaling by ERBB4 ⁶⁶ Show member pathways Downregulation of ERBB4 signaling ⁶⁶ ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶⁶	10.99	ERBB4 NRG1
6	Agrin Interactions at Neuromuscular Junction ⁶⁴	10.37	ERBB4 NRG1

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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	8.8	ALS2 CNTF NRG1

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell differentiation	GO:0030154	9.71	CNTF ERBB4 NRG1
2	nervous system development	GO:0007399	9.63	CNTF ERBB4 NRG1
3	positive regulation of cell proliferation	GO:0008284	9.58	CNTF ERBB4 NRG1
4	cell migration	GO:0016477	9.56	ERBB4 NRG1
5	peptidyl-tyrosine phosphorylation	GO:0018108	9.55	ERBB4 NRG1
6	positive regulation of protein kinase B signaling	GO:0051897	9.52	ERBB4 NRG1
7	phosphatidylinositol phosphorylation	GO:0046854	9.51	ERBB4 NRG1
8	locomotory behavior	GO:0007626	9.49	ALS2 NRG1
9	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.48	ERBB4 NRG1
10	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.43	CNTF ERBB4
11	positive regulation of protein kinase activity	GO:0045860	9.37	ALS2 NRG1
12	ERBB2 signaling pathway	GO:0038128	9.32	ERBB4 NRG1
13	regulation of cell motility	GO:2000145	9.26	ERBB4 NRG1
14	positive regulation of protein localization to cell surface	GO:2000010	9.16	ERBB4 NRG1
15	negative regulation of ERBB signaling pathway	GO:1901185	8.96	ERBB4 NRG1
16	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	protein tyrosine kinase activity	GO:0004713	9.26	ERBB4 NRG1
3	growth factor activity	GO:0008083	9.16	CNTF 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

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Sources for Amyotrophic Lateral Sclerosis 19

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia