Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: AMY107 MIFTS: 19	Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia Categories: Genetic diseases, Mental diseases
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Aliases & Classifications for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia ⁵⁷ ⁷³

Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶

Als14 ⁵⁷ ⁷⁵

Sclerosis, Lateral, Amyotrophic, Type 14, with or Without Frontotemporal Dementia ⁴⁰

Amyotrophic Lateral Sclerosis 14 Without Frontotemporal Dementia ⁶

Characteristics:

HPO:

³²

amyotrophic lateral sclerosis 14 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613954

MedGen ⁴² C3151403

MeSH ⁴⁴ D000690

SNOMED-CT via HPO ⁶⁹ 263681008 8011004 26544005 more

UMLS ⁷³ C3151403

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Summaries for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

OMIM : ⁵⁷ Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. 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 TDP43 (TARDBP; 605078) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010). See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD; 167320), which is also caused by mutation in the VCP gene and shows some overlapping features. In some families with a VCP mutation, some family members may have ALS14, and other members may have IBMPFD. For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). (613954)

MalaCards based summary : Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis type 14. An important gene associated with Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia is VCP (Valosin Containing Protein). Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are dysarthria and muscle weakness

UniProtKB/Swiss-Prot : ⁷⁵ Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia: 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. Patients with ALS14 may develop frontotemporal dementia.

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Related Diseases for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

Diseases related to Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	amyotrophic lateral sclerosis type 14	11.6

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Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

Clinical features from OMIM:

613954

Human phenotypes related to Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia:

³²

#	Description	HPO Source Accession
1	dysarthria ³²	HP:0001260
2	muscle weakness ³²	HP:0001324
3	fasciculations ³²	HP:0002380
4	skeletal muscle atrophy ³²	HP:0003202
5	amyotrophic lateral sclerosis ³²	HP:0007354

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Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia

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Genetic Tests for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

Genetic tests related to Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia:

#	Genetic test	Affiliating Genes
1	Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia ²⁹	VCP

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Anatomical Context for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia:

⁴¹

Brain, Spinal Cord, Skeletal Muscle

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Publications for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

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Genes for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

Genes related to Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	VCP	Valosin Containing Protein	Protein Coding	1355.56	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	21145000 20301623 15034582 (more) 18341608 16321991 21984748

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Variations for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	VCP	p.Arg155His	VAR_033018	rs121909329
2	VCP	p.Arg191Gln	VAR_033021	rs121909334
3	VCP	p.Arg159Gly	VAR_065910	rs387906789
4	VCP	p.Asp592Asn	VAR_065911	rs387906790

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia:

⁶

(show top 50) (show all 72)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	VCP	NM_007126.4(VCP): c.464G> A (p.Arg155His)	single nucleotide variant	Pathogenic	rs121909329	GRCh37	Chromosome 9, 35065360: 35065360
2	VCP	NM_007126.4(VCP): c.464G> A (p.Arg155His)	single nucleotide variant	Pathogenic	rs121909329	GRCh38	Chromosome 9, 35065363: 35065363
3	VCP	NM_007126.4(VCP): c.572G> A (p.Arg191Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909334	GRCh37	Chromosome 9, 35065252: 35065252
4	VCP	NM_007126.4(VCP): c.572G> A (p.Arg191Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909334	GRCh38	Chromosome 9, 35065255: 35065255
5	VCP	NM_007126.4(VCP): c.476G> A (p.Arg159His)	single nucleotide variant	Pathogenic	rs121909335	GRCh37	Chromosome 9, 35065348: 35065348
6	VCP	NM_007126.4(VCP): c.476G> A (p.Arg159His)	single nucleotide variant	Pathogenic	rs121909335	GRCh38	Chromosome 9, 35065351: 35065351
7	VCP	NM_007126.4(VCP): c.475C> G (p.Arg159Gly)	single nucleotide variant	Pathogenic	rs387906789	GRCh37	Chromosome 9, 35065349: 35065349
8	VCP	NM_007126.4(VCP): c.475C> G (p.Arg159Gly)	single nucleotide variant	Pathogenic	rs387906789	GRCh38	Chromosome 9, 35065352: 35065352
9	VCP	NM_007126.4(VCP): c.1774G> A (p.Asp592Asn)	single nucleotide variant	Pathogenic	rs387906790	GRCh37	Chromosome 9, 35059720: 35059720
10	VCP	NM_007126.4(VCP): c.1774G> A (p.Asp592Asn)	single nucleotide variant	Pathogenic	rs387906790	GRCh38	Chromosome 9, 35059723: 35059723
11	VCP	NM_007126.4(VCP): c.2214A> G (p.Glu738=)	single nucleotide variant	Benign/Likely benign	rs374391034	GRCh37	Chromosome 9, 35057474: 35057474
12	VCP	NM_007126.4(VCP): c.2214A> G (p.Glu738=)	single nucleotide variant	Benign/Likely benign	rs374391034	GRCh38	Chromosome 9, 35057477: 35057477
13	VCP	NM_007126.3(VCP): c.2406T> C (p.Asp802=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145508640	GRCh37	Chromosome 9, 35057129: 35057129
14	VCP	NM_007126.3(VCP): c.2406T> C (p.Asp802=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145508640	GRCh38	Chromosome 9, 35057132: 35057132
15	VCP	NM_007126.4(VCP): c.1704A> G (p.Gln568=)	single nucleotide variant	Benign/Likely benign	rs142577424	GRCh37	Chromosome 9, 35059790: 35059790
16	VCP	NM_007126.4(VCP): c.1704A> G (p.Gln568=)	single nucleotide variant	Benign/Likely benign	rs142577424	GRCh38	Chromosome 9, 35059793: 35059793
17	VCP	NM_007126.3(VCP): c.1082-18_1082-8dupTTGTGTACTGT	duplication	Benign	rs11272867	GRCh37	Chromosome 9, 35061694: 35061704
18	VCP	NM_007126.3(VCP): c.1082-18_1082-8dupTTGTGTACTGT	duplication	Benign	rs11272867	GRCh38	Chromosome 9, 35061697: 35061707
19	VCP	NM_007126.3(VCP): c.1584C> T (p.Ala528=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147623367	GRCh37	Chromosome 9, 35060421: 35060421
20	VCP	NM_007126.3(VCP): c.1584C> T (p.Ala528=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147623367	GRCh38	Chromosome 9, 35060424: 35060424
21	VCP	NM_007126.3(VCP): c.79A> G (p.Ile27Val)	single nucleotide variant	Benign	rs140913250	GRCh37	Chromosome 9, 35068298: 35068298
22	VCP	NM_007126.3(VCP): c.79A> G (p.Ile27Val)	single nucleotide variant	Benign	rs140913250	GRCh38	Chromosome 9, 35068301: 35068301
23	VCP	NM_007126.4(VCP): c.18-5T> C	single nucleotide variant	Benign/Likely benign	rs114256093	GRCh37	Chromosome 9, 35068364: 35068364
24	VCP	NM_007126.4(VCP): c.18-5T> C	single nucleotide variant	Benign/Likely benign	rs114256093	GRCh38	Chromosome 9, 35068367: 35068367
25	VCP	NM_007126.4(VCP): c.1092C> T (p.Asp364=)	single nucleotide variant	Benign/Likely benign	rs61752947	GRCh37	Chromosome 9, 35061676: 35061676
26	VCP	NM_007126.4(VCP): c.1092C> T (p.Asp364=)	single nucleotide variant	Benign/Likely benign	rs61752947	GRCh38	Chromosome 9, 35061679: 35061679
27	VCP	NM_007126.4(VCP): c.927C> T (p.Ile309=)	single nucleotide variant	Benign/Likely benign	rs34097935	GRCh38	Chromosome 9, 35062235: 35062235
28	VCP	NM_007126.4(VCP): c.927C> T (p.Ile309=)	single nucleotide variant	Benign/Likely benign	rs34097935	GRCh37	Chromosome 9, 35062232: 35062232
29	VCP	NM_007126.4(VCP): c.1374G> C (p.Gln458His)	single nucleotide variant	Uncertain significance	rs1060499674	GRCh37	Chromosome 9, 35060906: 35060906
30	VCP	NM_007126.4(VCP): c.1374G> C (p.Gln458His)	single nucleotide variant	Uncertain significance	rs1060499674	GRCh38	Chromosome 9, 35060909: 35060909
31	VCP	NM_007126.4(VCP): c.278G> A (p.Arg93His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779959657	GRCh37	Chromosome 9, 35067912: 35067912
32	VCP	NM_007126.4(VCP): c.278G> A (p.Arg93His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779959657	GRCh38	Chromosome 9, 35067915: 35067915
33	VCP	NM_007126.4(VCP): c.2412G> A (p.Leu804=)	single nucleotide variant	Likely benign	rs757712897	GRCh38	Chromosome 9, 35057126: 35057126
34	VCP	NM_007126.4(VCP): c.2412G> A (p.Leu804=)	single nucleotide variant	Likely benign	rs757712897	GRCh37	Chromosome 9, 35057123: 35057123
35	VCP	NM_007126.4(VCP): c.426G> A (p.Ala142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs577812326	GRCh38	Chromosome 9, 35066694: 35066694
36	VCP	NM_007126.4(VCP): c.426G> A (p.Ala142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs577812326	GRCh37	Chromosome 9, 35066691: 35066691
37	VCP	NM_007126.4(VCP): c.576+10C> G	single nucleotide variant	Likely benign	rs757728490	GRCh37	Chromosome 9, 35065238: 35065238
38	VCP	NM_007126.4(VCP): c.576+10C> G	single nucleotide variant	Likely benign	rs757728490	GRCh38	Chromosome 9, 35065241: 35065241
39	VCP	NM_007126.4(VCP): c.1696-7C> T	single nucleotide variant	Likely benign		GRCh37	Chromosome 9, 35059805: 35059805
40	VCP	NM_007126.4(VCP): c.1696-7C> T	single nucleotide variant	Likely benign		GRCh38	Chromosome 9, 35059808: 35059808
41	VCP	NM_007126.4(VCP): c.1082-9G> T	single nucleotide variant	Benign	rs12349922	GRCh37	Chromosome 9, 35061695: 35061695
42	VCP	NM_007126.4(VCP): c.1082-9G> T	single nucleotide variant	Benign	rs12349922	GRCh38	Chromosome 9, 35061698: 35061698
43	VCP	NM_007126.4(VCP): c.1017A> G (p.Ala339=)	single nucleotide variant	Likely benign	rs565534943	GRCh37	Chromosome 9, 35062064: 35062064
44	VCP	NM_007126.4(VCP): c.1017A> G (p.Ala339=)	single nucleotide variant	Likely benign	rs565534943	GRCh38	Chromosome 9, 35062067: 35062067
45	VCP	NM_007126.4(VCP): c.303-3C> T	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 9, 35066817: 35066817
46	VCP	NM_007126.4(VCP): c.303-3C> T	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 9, 35066820: 35066820
47	VCP	NM_007126.4(VCP): c.1202A> G (p.Asn401Ser)	single nucleotide variant	Likely benign	rs148329626	GRCh37	Chromosome 9, 35061169: 35061169
48	VCP	NM_007126.4(VCP): c.1202A> G (p.Asn401Ser)	single nucleotide variant	Likely benign	rs148329626	GRCh38	Chromosome 9, 35061172: 35061172
49	VCP	NM_007126.4(VCP): c.811+2_811+3delinsCA	indel	Uncertain significance		GRCh37	Chromosome 9, 35062972: 35062973
50	VCP	NM_007126.4(VCP): c.811+2_811+3delinsCA	indel	Uncertain significance		GRCh38	Chromosome 9, 35062975: 35062976

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Expression for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia.

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Pathways for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

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GO Terms for Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal...

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