ALS14
MCID: AMY107
MIFTS: 21

Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia (ALS14)

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

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 58 74
Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia 58 76 30 13 6
Als14 58 76
Sclerosis, Lateral, Amyotrophic, Type 14, with or Without Frontotemporal Dementia 41
Amyotrophic Lateral Sclerosis 14 Without Frontotemporal Dementia 6

Characteristics:

HPO:

33
amyotrophic lateral sclerosis 14 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613954
MeSH 45 D000690
MedGen 43 C3151403
UMLS 74 C3151403

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

OMIM : 58 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 : 76 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.

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

Diseases in the Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia family:

Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia

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 11.8

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

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

33
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 muscle weakness 33 HP:0001324
3 skeletal muscle atrophy 33 HP:0003202
4 amyotrophic lateral sclerosis 33 HP:0007354
5 fasciculations 33 HP:0002380

Clinical features from OMIM:

613954

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

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 30 VCP

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:

42
Brain, Spinal Cord, Skeletal Muscle, Bone

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

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

# Title Authors Year
1
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. ( 21984748 )
2012
2
Exome sequencing reveals VCP mutations as a cause of familial ALS. ( 21145000 )
2010
3
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. ( 18341608 )
2008
4
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. ( 16321991 )
2006
5
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. ( 15034582 )
2004

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:

76
# 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 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 VCP NM_007126.3(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 GRCh37 Chromosome 9, 35065360: 35065360
2 VCP NM_007126.3(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 GRCh38 Chromosome 9, 35065363: 35065363
3 VCP NM_007126.3(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 GRCh37 Chromosome 9, 35065361: 35065361
4 VCP NM_007126.3(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 GRCh38 Chromosome 9, 35065364: 35065364
5 VCP NM_007126.4(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909334 GRCh37 Chromosome 9, 35065252: 35065252
6 VCP NM_007126.4(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909334 GRCh38 Chromosome 9, 35065255: 35065255
7 VCP NM_007126.3(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 GRCh37 Chromosome 9, 35065348: 35065348
8 VCP NM_007126.3(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 GRCh38 Chromosome 9, 35065351: 35065351
9 VCP NM_007126.4(VCP): c.475C> G (p.Arg159Gly) single nucleotide variant Pathogenic rs387906789 GRCh37 Chromosome 9, 35065349: 35065349
10 VCP NM_007126.4(VCP): c.475C> G (p.Arg159Gly) single nucleotide variant Pathogenic rs387906789 GRCh38 Chromosome 9, 35065352: 35065352
11 VCP NM_007126.4(VCP): c.1774G> A (p.Asp592Asn) single nucleotide variant Pathogenic rs387906790 GRCh37 Chromosome 9, 35059720: 35059720
12 VCP NM_007126.4(VCP): c.1774G> A (p.Asp592Asn) single nucleotide variant Pathogenic rs387906790 GRCh38 Chromosome 9, 35059723: 35059723
13 VCP NM_007126.4(VCP): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs374391034 GRCh37 Chromosome 9, 35057474: 35057474
14 VCP NM_007126.4(VCP): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs374391034 GRCh38 Chromosome 9, 35057477: 35057477
15 VCP NM_007126.3(VCP): c.2406T> C (p.Asp802=) single nucleotide variant Conflicting interpretations of pathogenicity rs145508640 GRCh37 Chromosome 9, 35057129: 35057129
16 VCP NM_007126.3(VCP): c.2406T> C (p.Asp802=) single nucleotide variant Conflicting interpretations of pathogenicity rs145508640 GRCh38 Chromosome 9, 35057132: 35057132
17 VCP NM_007126.4(VCP): c.1704A> G (p.Gln568=) single nucleotide variant Benign/Likely benign rs142577424 GRCh37 Chromosome 9, 35059790: 35059790
18 VCP NM_007126.4(VCP): c.1704A> G (p.Gln568=) single nucleotide variant Benign/Likely benign rs142577424 GRCh38 Chromosome 9, 35059793: 35059793
19 VCP NM_007126.3(VCP): c.1082-18_1082-8dupTTGTGTACTGT duplication Benign rs11272867 GRCh37 Chromosome 9, 35061694: 35061704
20 VCP NM_007126.3(VCP): c.1082-18_1082-8dupTTGTGTACTGT duplication Benign rs11272867 GRCh38 Chromosome 9, 35061697: 35061707
21 VCP NM_007126.3(VCP): c.1584C> T (p.Ala528=) single nucleotide variant Conflicting interpretations of pathogenicity rs147623367 GRCh37 Chromosome 9, 35060421: 35060421
22 VCP NM_007126.3(VCP): c.1584C> T (p.Ala528=) single nucleotide variant Conflicting interpretations of pathogenicity rs147623367 GRCh38 Chromosome 9, 35060424: 35060424
23 VCP NM_007126.3(VCP): c.79A> G (p.Ile27Val) single nucleotide variant Benign rs140913250 GRCh37 Chromosome 9, 35068298: 35068298
24 VCP NM_007126.3(VCP): c.79A> G (p.Ile27Val) single nucleotide variant Benign rs140913250 GRCh38 Chromosome 9, 35068301: 35068301
25 VCP NM_007126.4(VCP): c.18-5T> C single nucleotide variant Benign/Likely benign rs114256093 GRCh38 Chromosome 9, 35068367: 35068367
26 VCP NM_007126.4(VCP): c.18-5T> C single nucleotide variant Benign/Likely benign rs114256093 GRCh37 Chromosome 9, 35068364: 35068364
27 VCP NM_007126.4(VCP): c.1092C> T (p.Asp364=) single nucleotide variant Benign/Likely benign rs61752947 GRCh38 Chromosome 9, 35061679: 35061679
28 VCP NM_007126.4(VCP): c.1092C> T (p.Asp364=) single nucleotide variant Benign/Likely benign rs61752947 GRCh37 Chromosome 9, 35061676: 35061676
29 VCP NM_007126.4(VCP): c.927C> T (p.Ile309=) single nucleotide variant Benign/Likely benign rs34097935 GRCh38 Chromosome 9, 35062235: 35062235
30 VCP NM_007126.4(VCP): c.927C> T (p.Ile309=) single nucleotide variant Benign/Likely benign rs34097935 GRCh37 Chromosome 9, 35062232: 35062232
31 VCP NM_007126.4(VCP): c.1374G> C (p.Gln458His) single nucleotide variant Uncertain significance rs1060499674 GRCh37 Chromosome 9, 35060906: 35060906
32 VCP NM_007126.4(VCP): c.1374G> C (p.Gln458His) single nucleotide variant Uncertain significance rs1060499674 GRCh38 Chromosome 9, 35060909: 35060909
33 VCP NM_007126.3(VCP): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs779959657 GRCh37 Chromosome 9, 35067912: 35067912
34 VCP NM_007126.3(VCP): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs779959657 GRCh38 Chromosome 9, 35067915: 35067915
35 VCP NM_007126.4(VCP): c.2412G> A (p.Leu804=) single nucleotide variant Likely benign rs757712897 GRCh37 Chromosome 9, 35057123: 35057123
36 VCP NM_007126.4(VCP): c.2412G> A (p.Leu804=) single nucleotide variant Likely benign rs757712897 GRCh38 Chromosome 9, 35057126: 35057126
37 VCP NM_007126.4(VCP): c.426G> A (p.Ala142=) single nucleotide variant Conflicting interpretations of pathogenicity rs577812326 GRCh37 Chromosome 9, 35066691: 35066691
38 VCP NM_007126.4(VCP): c.426G> A (p.Ala142=) single nucleotide variant Conflicting interpretations of pathogenicity rs577812326 GRCh38 Chromosome 9, 35066694: 35066694
39 VCP NM_007126.4(VCP): c.576+10C> G single nucleotide variant Likely benign rs757728490 GRCh37 Chromosome 9, 35065238: 35065238
40 VCP NM_007126.4(VCP): c.576+10C> G single nucleotide variant Likely benign rs757728490 GRCh38 Chromosome 9, 35065241: 35065241
41 VCP NM_007126.4(VCP): c.1696-7C> T single nucleotide variant Likely benign rs1554668202 GRCh38 Chromosome 9, 35059808: 35059808
42 VCP NM_007126.4(VCP): c.1696-7C> T single nucleotide variant Likely benign rs1554668202 GRCh37 Chromosome 9, 35059805: 35059805
43 VCP NM_007126.4(VCP): c.1082-9G> T single nucleotide variant Benign rs12349922 GRCh38 Chromosome 9, 35061698: 35061698
44 VCP NM_007126.4(VCP): c.1082-9G> T single nucleotide variant Benign rs12349922 GRCh37 Chromosome 9, 35061695: 35061695
45 VCP NM_007126.4(VCP): c.1017A> G (p.Ala339=) single nucleotide variant Likely benign rs565534943 GRCh38 Chromosome 9, 35062067: 35062067
46 VCP NM_007126.4(VCP): c.1017A> G (p.Ala339=) single nucleotide variant Likely benign rs565534943 GRCh37 Chromosome 9, 35062064: 35062064
47 VCP NM_007126.4(VCP): c.303-3C> T single nucleotide variant Uncertain significance rs1183711292 GRCh38 Chromosome 9, 35066820: 35066820
48 VCP NM_007126.4(VCP): c.303-3C> T single nucleotide variant Uncertain significance rs1183711292 GRCh37 Chromosome 9, 35066817: 35066817
49 VCP NM_007126.4(VCP): c.1202A> G (p.Asn401Ser) single nucleotide variant Likely benign rs148329626 GRCh37 Chromosome 9, 35061169: 35061169
50 VCP NM_007126.4(VCP): c.1202A> G (p.Asn401Ser) single nucleotide variant Likely benign rs148329626 GRCh38 Chromosome 9, 35061172: 35061172

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

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

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

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