ALS14
MCID: AMY107
MIFTS: 26

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 56 71
Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia 56 73 29 13 6
Als14 56 73
Sclerosis, Lateral, Amyotrophic, Type 14, with or Without Frontotemporal Dementia 39
Amyotrophic Lateral Sclerosis 14 Without Frontotemporal Dementia 6

Characteristics:

HPO:

31
amyotrophic lateral sclerosis 14 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 613954
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
MedGen 41 C3151403
UMLS 71 C3151403

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

OMIM : 56 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 muscle weakness and skeletal muscle atrophy

UniProtKB/Swiss-Prot : 73 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 11.9

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

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

31
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 skeletal muscle atrophy 31 HP:0003202
3 dysarthria 31 HP:0001260
4 fasciculations 31 HP:0002380
5 amyotrophic lateral sclerosis 31 HP:0007354

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 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:

40
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 PMID Year
1
Exome sequencing reveals VCP mutations as a cause of familial ALS. 56 6
21145000 2010
2
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. 6 56
15034582 2004
3
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
4
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 6
21984748 2012
5
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. 6
18341608 2008
6
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. 6
16321991 2006
7
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
8
VAPB/ALS8 interacts with FFAT-like proteins including the p97 cofactor FAF1 and the ASNA1 ATPase. 61
24885147 2014
9
Valosin-containing protein immunoreactivity in tauopathies, synucleinopathies, polyglutamine diseases and intranuclear inclusion body disease. 61
23782134 2013
10
Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains. 61
23056506 2012

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

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VCP NM_007126.5(VCP):c.277C>T (p.Arg93Cys)SNV Pathogenic 593071 rs1554669087 9:35067913-35067913 9:35067916-35067916
2 VCP NM_007126.5(VCP):c.464G>A (p.Arg155His)SNV Pathogenic 8468 rs121909329 9:35065360-35065360 9:35065363-35065363
3 VCP NM_007126.5(VCP):c.476G>A (p.Arg159His)SNV Pathogenic 8474 rs121909335 9:35065348-35065348 9:35065351-35065351
4 VCP NM_007126.5(VCP):c.475C>G (p.Arg159Gly)SNV Pathogenic 30152 rs387906789 9:35065349-35065349 9:35065352-35065352
5 VCP NM_007126.5(VCP):c.1774G>A (p.Asp592Asn)SNV Pathogenic 30153 rs387906790 9:35059720-35059720 9:35059723-35059723
6 VCP NM_007126.5(VCP):c.475C>T (p.Arg159Cys)SNV Pathogenic/Likely pathogenic 280123 rs387906789 9:35065349-35065349 9:35065352-35065352
7 VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys)SNV Pathogenic/Likely pathogenic 8469 rs121909330 9:35065361-35065361 9:35065364-35065364
8 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln)SNV Pathogenic/Likely pathogenic 8473 rs121909334 9:35065252-35065252 9:35065255-35065255
9 VCP NM_007126.5(VCP):c.572G>C (p.Arg191Pro)SNV Likely pathogenic 873223 9:35065252-35065252 9:35065255-35065255
10 VCP NM_007126.5(VCP):c.384T>C (p.Gly128=)SNV Conflicting interpretations of pathogenicity 914193 9:35066733-35066733 9:35066736-35066736
11 VCP NM_007126.5(VCP):c.2406T>C (p.Asp802=)SNV Conflicting interpretations of pathogenicity 194756 rs145508640 9:35057129-35057129 9:35057132-35057132
12 VCP NM_007126.5(VCP):c.463C>G (p.Arg155Gly)SNV Conflicting interpretations of pathogenicity 217028 rs121909330 9:35065361-35065361 9:35065364-35065364
13 VCP NM_007126.5(VCP):c.278G>A (p.Arg93His)SNV Conflicting interpretations of pathogenicity 449554 rs779959657 9:35067912-35067912 9:35067915-35067915
14 VCP NM_007126.5(VCP):c.426G>A (p.Ala142=)SNV Conflicting interpretations of pathogenicity 464109 rs577812326 9:35066691-35066691 9:35066694-35066694
15 VCP NM_007126.5(VCP):c.478G>C (p.Ala160Pro)SNV Conflicting interpretations of pathogenicity 532761 rs1554668805 9:35065346-35065346 9:35065349-35065349
16 VCP NM_007126.5(VCP):c.1584C>T (p.Ala528=)SNV Conflicting interpretations of pathogenicity 283215 rs147623367 9:35060421-35060421 9:35060424-35060424
17 VCP NM_007126.5(VCP):c.1374G>C (p.Gln458His)SNV Uncertain significance 397543 rs1060499674 9:35060906-35060906 9:35060909-35060909
18 VCP NM_007126.5(VCP):c.*382C>TSNV Uncertain significance 366710 rs749381324 9:35056732-35056732 9:35056735-35056735
19 VCP NM_007126.5(VCP):c.*184G>ASNV Uncertain significance 366712 rs886063889 9:35056930-35056930 9:35056933-35056933
20 VCP NM_007126.5(VCP):c.*64C>TSNV Uncertain significance 366715 rs553370942 9:35057050-35057050 9:35057053-35057053
21 VCP NM_007126.5(VCP):c.1360-6T>CSNV Uncertain significance 366717 rs370296303 9:35060926-35060926 9:35060929-35060929
22 VCP NM_007126.5(VCP):c.*788G>ASNV Uncertain significance 366705 rs886063887 9:35056326-35056326 9:35056329-35056329
23 VCP NM_007126.5(VCP):c.*347C>TSNV Uncertain significance 366711 rs886063888 9:35056767-35056767 9:35056770-35056770
24 VCP NM_007126.5(VCP):c.*172C>GSNV Uncertain significance 366713 rs886063890 9:35056942-35056942 9:35056945-35056945
25 VCP NM_007126.5(VCP):c.-215A>GSNV Uncertain significance 366723 rs886063893 9:35072565-35072565 9:35072568-35072568
26 VCP NM_007126.5(VCP):c.-250C>TSNV Uncertain significance 366725 rs886063894 9:35072600-35072600 9:35072603-35072603
27 VCP NM_007126.5(VCP):c.954C>T (p.Gly318=)SNV Uncertain significance 287400 rs377316335 9:35062127-35062127 9:35062130-35062130
28 VCP NM_007126.5(VCP):c.*700C>ASNV Uncertain significance 366706 rs537730311 9:35056414-35056414 9:35056417-35056417
29 VCP NM_007126.3(VCP):c.-370G>ASNV Uncertain significance 366727 rs886063895 9:35072720-35072720 9:35072723-35072723
30 VCP NM_007126.5(VCP):c.185A>G (p.Lys62Arg)SNV Uncertain significance 366720 rs886063892 9:35068005-35068005 9:35068008-35068008
31 VCP NM_007126.5(VCP):c.-53C>TSNV Uncertain significance 366722 rs369830702 9:35072403-35072403 9:35072406-35072406
32 VCP NM_007126.5(VCP):c.1360-4C>GSNV Uncertain significance 532759 rs769279961 9:35060924-35060924 9:35060927-35060927
33 VCP NM_007126.5(VCP):c.1327A>C (p.Asn443His)SNV Uncertain significance 532760 rs770514866 9:35061044-35061044 9:35061047-35061047
34 VCP NM_007126.5(VCP):c.479C>T (p.Ala160Val)SNV Uncertain significance 532758 rs1554668804 9:35065345-35065345 9:35065348-35065348
35 VCP NM_007126.5(VCP):c.303-3C>TSNV Uncertain significance 464108 rs1183711292 9:35066817-35066817 9:35066820-35066820
36 VCP NM_007126.5(VCP):c.811+2_811+3invinversion Uncertain significance 464111 rs1554668584 9:35062972-35062973 9:35062975-35062976
37 VCP NM_007126.5(VCP):c.284G>C (p.Arg95Pro)SNV Uncertain significance 595911 rs758169026 9:35067906-35067906 9:35067909-35067909
38 VCP NM_007126.5(VCP):c.340A>G (p.Ile114Val)SNV Uncertain significance 597496 rs549915384 9:35066777-35066777 9:35066780-35066780
39 VCP NM_007126.5(VCP):c.2266G>A (p.Glu756Lys)SNV Uncertain significance 653332 9:35057422-35057422 9:35057425-35057425
40 VCP NM_007126.5(VCP):c.2014T>G (p.Leu672Val)SNV Uncertain significance 647081 9:35059207-35059207 9:35059210-35059210
41 VCP NM_007126.5(VCP):c.1180G>A (p.Val394Met)SNV Uncertain significance 656560 9:35061588-35061588 9:35061591-35061591
42 VCP NM_007126.5(VCP):c.512G>T (p.Ser171Ile)SNV Uncertain significance 640109 9:35065312-35065312 9:35065315-35065315
43 VCP NM_007126.5(VCP):c.84T>A (p.Val28=)SNV Uncertain significance 638960 9:35068293-35068293 9:35068296-35068296
44 VCP NM_007126.5(VCP):c.2397C>G (p.Asp799Glu)SNV Uncertain significance 568017 rs1329151473 9:35057138-35057138 9:35057141-35057141
45 VCP NM_007126.5(VCP):c.1984C>T (p.Arg662Cys)SNV Uncertain significance 572697 rs765795425 9:35059510-35059510 9:35059513-35059513
46 VCP NM_007126.5(VCP):c.1194+3G>ASNV Uncertain significance 565903 rs183223259 9:35061571-35061571 9:35061574-35061574
47 VCP NM_007126.5(VCP):c.374G>A (p.Gly125Asp)SNV Uncertain significance 569394 rs1563980403 9:35066743-35066743 9:35066746-35066746
48 VCP NM_007126.5(VCP):c.320A>T (p.Asp107Val)SNV Uncertain significance 575232 rs1563980440 9:35066797-35066797 9:35066800-35066800
49 VCP NM_007126.5(VCP):c.553G>A (p.Glu185Lys)SNV Uncertain significance 218305 rs864309501 9:35065271-35065271 9:35065274-35065274
50 VCP NM_007126.5(VCP):c.446-4G>ASNV Uncertain significance 914192 9:35065382-35065382 9:35065385-35065385

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

73
# 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

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.

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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72 UMLS via Orphanet
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