MCID: AMY107
MIFTS: 19

Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia

Categories: Genetic diseases, Mental 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 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:



External Ids:

OMIM 57 613954
MedGen 42 C3151403
MeSH 44 D000690
UMLS 73 C3151403

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.

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

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 Frequency 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

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 29 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:

41
Brain, Spinal Cord, Skeletal Muscle

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

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

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...

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

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