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 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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060210

OMIM® ⁵⁷ 615515

OMIM Phenotypic Series ⁵⁷ PS105400

MeSH ⁴³ D000690

MedGen ⁴⁰ C3715155 CN181216

SNOMED-CT via HPO ⁶⁹ 86044005

UMLS ⁷¹ C3715155

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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

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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 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:

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Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 19

Human phenotypes related to Amyotrophic Lateral Sclerosis 19:

³⁰

#	Description	HPO 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

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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 Type 19 ²⁸	ERBB4

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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

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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	Takahashi Y...Tsuji S	24119685	2013
2	Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis. ⁶²	Witzel S...German Motor Neuron Disease Network (MND-NET)	35006266	2022
3	Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS. ⁶²	Takahashi Y...Saito Y	31124187	2019
4	Validation of a semiautomated spinal cord segmentation method. ⁶²	El Mendili MM...Benali H	24436309	2015
5	Preceding infections and anti-ganglioside antibody profiles assessed by a dot immunoassay in 306 French Guillain-Barré syndrome patients. ⁶²	Caudie C...Gaillard JL	21516465	2011
6	Agreement among three quality of life measures in patients with ALS. ⁶²	Smith PS...Carroll B	11465020	2000

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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	PubMed IDs
1	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1339.17	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	24119685
2	SOD1	Superoxide Dismutase 1	Protein Coding	5.73	DISEASES inferred ¹⁴
3	UBQLN2	Ubiquilin 2	Protein Coding	5.5	DISEASES inferred ¹⁴
4	NRG1	Neuregulin 1	Protein Coding	5.29	DISEASES inferred ¹⁴
5	C9orf72	C9orf72-SMCR8 Complex Subunit	Protein Coding	5.27	DISEASES inferred ¹⁴
6	PRPH	Peripherin	Protein Coding	5.27	DISEASES inferred ¹⁴
7	ALS2	Alsin Rho Guanine Nucleotide Exchange Factor ALS2	Protein Coding	5.26	DISEASES inferred ¹⁴
8	TARDBP	TAR DNA Binding Protein	Protein Coding	5.1	DISEASES inferred ¹⁴
9	GRM7	Glutamate Metabotropic Receptor 7	Protein Coding	4.73	DISEASES inferred ¹⁴

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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

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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	Physico-chemical features and toxicity-associated pathways ⁷⁴	11.07	SOD1 ERBB4
2	Neurogenesis regulation in the olfactory epithelium ⁷⁴	10.91	NRG1 ERBB4
3	Agrin Interactions at Neuromuscular Junction ⁶⁴	10.71	NRG1 ERBB4
4	Amyotrophic lateral sclerosis (ALS) ⁷⁴	10.36	SOD1 PRPH ALS2

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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	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

Sources for Amyotrophic Lateral Sclerosis 19

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ALS19 MCID: AMY059 MIFTS: 37	Amyotrophic Lateral Sclerosis 19 (ALS19) Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Amyotrophic Lateral Sclerosis 19 (ALS19)

Aliases & Classifications for Amyotrophic Lateral Sclerosis 19

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 19:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Amyotrophic Lateral Sclerosis 19

Related Diseases for Amyotrophic Lateral Sclerosis 19

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

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

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

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 19

Human phenotypes related to Amyotrophic Lateral Sclerosis 19:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 19:

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 19

Genetic Tests for Amyotrophic Lateral Sclerosis 19

Genetic tests related to Amyotrophic Lateral Sclerosis 19:

Anatomical Context for Amyotrophic Lateral Sclerosis 19

Organs/tissues related to Amyotrophic Lateral Sclerosis 19:

Publications for Amyotrophic Lateral Sclerosis 19

Articles related to Amyotrophic Lateral Sclerosis 19:

Genes for Amyotrophic Lateral Sclerosis 19

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

Variations for Amyotrophic Lateral Sclerosis 19

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 19:

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

Expression for Amyotrophic Lateral Sclerosis 19

Pathways for Amyotrophic Lateral Sclerosis 19

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

GO Terms for Amyotrophic Lateral Sclerosis 19

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

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

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

Sources for Amyotrophic Lateral Sclerosis 19