MCID: MLT177
MIFTS: 30

Multisystem Proteinopathy

Categories: Bone diseases, Neuronal diseases

Aliases & Classifications for Multisystem Proteinopathy

MalaCards integrated aliases for Multisystem Proteinopathy:

Name: Multisystem Proteinopathy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:070355

Summaries for Multisystem Proteinopathy

Disease Ontology : 12 A motor neuron disease that has material basis in some inheritance and affects muscle, bone, and the nervous system.

MalaCards based summary : Multisystem Proteinopathy is related to inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 and paget's disease of bone. An important gene associated with Multisystem Proteinopathy is HNRNPA1 (Heterogeneous Nuclear Ribonucleoprotein A1), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Regulation of degradation of deltaF508 CFTR in CF. Affiliated tissues include bone, brain and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Multisystem proteinopathy (MSP) is a dominantly inherited, pleiotropic, degenerative disorder of humans... more...

Related Diseases for Multisystem Proteinopathy

Diseases related to Multisystem Proteinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 33.0 VCP HNRNPA2B1 HNRNPA1
2 paget's disease of bone 30.7 VCP SQSTM1 OPTN HNRNPA2B1 HNRNPA1
3 amyotrophic lateral sclerosis 20 30.6 MATR3 HNRNPA1
4 inclusion body myopathy with paget disease of bone and frontotemporal dementia 30.4 VCP UFD1 UBXN6 UBQLN2 TARDBP SQSTM1
5 amyotrophic lateral sclerosis 21 30.2 MATR3 FUS ATXN2
6 myopathy 29.5 VCP TIA1 TARDBP SQSTM1 MATR3 HNRNPDL
7 muscular dystrophy 29.4 VCP MATR3 HNRNPDL HNRNPC HNRNPA2B1 HNRNPA1
8 charcot-marie-tooth disease 29.0 VCP UBQLN2 TARDBP FUS C9orf72 ATXN2
9 lateral sclerosis 28.8 VCP UBQLN2 TARDBP SQSTM1 OPTN MATR3
10 frontotemporal dementia 28.7 VCP UBQLN2 TIA1 TARDBP SQSTM1 HNRNPA2B1
11 motor neuron disease 28.2 VCP TIA1 TARDBP SQSTM1 PABPC1 OPTN
12 amyotrophic lateral sclerosis 1 27.1 VCP UBQLN2 TIA1 TARDBP SQSTM1 OPTN
13 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 12.0
14 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 12.0
15 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 11.8
16 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 11.8
17 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 11.5
18 spastic paraplegia-paget disease of bone syndrome 10.5 VCP SQSTM1
19 mammary paget's disease 10.5
20 welander distal myopathy 10.4 TIA1 SQSTM1
21 progressive non-fluent aphasia 10.3 VCP C9orf72
22 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.3 MATR3 C9orf72
23 amyotrophic lateral sclerosis type 22 10.2 TARDBP C9orf72
24 muscular dystrophy, limb-girdle, autosomal dominant 3 10.2 HNRNPDL DNAJB6
25 autosomal dominant limb-girdle muscular dystrophy 10.2 VCP HNRNPDL DNAJB6
26 miyoshi muscular dystrophy 10.2
27 semantic dementia 10.2 TARDBP C9orf72
28 frontotemporal dementia, chromosome 3-linked 10.2 VCP TARDBP FUS
29 amyotrophic lateral sclerosis type 15 10.2 UBQLN2 C9orf72
30 inclusion body myositis 10.2 VCP TARDBP SQSTM1
31 amyotrophic lateral sclerosis 19 10.2 UBQLN2 TARDBP MATR3
32 dysgraphia 10.2 TARDBP C9orf72
33 agraphia 10.2 VCP TARDBP C9orf72
34 writing disorder 10.2 VCP TARDBP C9orf72
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.2 TARDBP SQSTM1 C9orf72
36 oculopharyngeal muscular dystrophy 10.2 HNRNPC HNRNPA2B1 HNRNPA1
37 progressive bulbar palsy 10.1 FUS C9orf72
38 amyotrophic lateral sclerosis 18 10.1 UBQLN2 FUS
39 myofibrillar myopathy 10.1 VCP TARDBP DNAJB6
40 perry syndrome 10.1 VCP TARDBP C9orf72
41 pica disease 10.1 TARDBP FUS C9orf72
42 endometrial stromal tumor 10.1 HNRNPDL HNRNPC HNRNPA1
43 parkinson disease, late-onset 10.1
44 early-onset parkinson's disease 10.1
45 tooth disease 10.1
46 respiratory failure 10.1
47 limb-girdle muscular dystrophy 10.1
48 udd distal myopathy - tibial muscular dystrophy 10.1
49 fragile x-associated tremor/ataxia syndrome 10.1 HNRNPA3 HNRNPA2B1 C9orf72
50 pseudobulbar palsy 10.0 TARDBP C9orf72

Graphical network of the top 20 diseases related to Multisystem Proteinopathy:



Diseases related to Multisystem Proteinopathy

Symptoms & Phenotypes for Multisystem Proteinopathy

GenomeRNAi Phenotypes related to Multisystem Proteinopathy according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.37 DNAJB6 HNRNPC
2 Decreased viability GR00221-A-3 10.37 HNRNPA2B1
3 Decreased viability GR00221-A-4 10.37 FUS HNRNPA2B1
4 Decreased viability GR00231-A 10.37 SQSTM1
5 Decreased viability GR00240-S-1 10.37 TIA1
6 Decreased viability GR00249-S 10.37 HNRNPC OPTN TIA1 UBQLN2
7 Decreased viability GR00381-A-1 10.37 HNRNPC SQSTM1 TIA1 UBXN6 UFD1 VCP
8 Decreased viability GR00386-A-1 10.37 HNRNPA2B1 HNRNPA3 HNRNPC MATR3 OPTN UBQLN2
9 Decreased viability GR00402-S-2 10.37 HNRNPA2B1 HNRNPA3 HNRNPC HNRNPDL PABPC1 SQSTM1
10 Increased homologous recombination repair frequency GR00151-A-1 8.65 HNRNPA2B1
11 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1

Drugs & Therapeutics for Multisystem Proteinopathy

Search Clinical Trials , NIH Clinical Center for Multisystem Proteinopathy

Genetic Tests for Multisystem Proteinopathy

Anatomical Context for Multisystem Proteinopathy

MalaCards organs/tissues related to Multisystem Proteinopathy:

40
Bone, Brain, Heart, Skeletal Muscle, Testes, Tongue

Publications for Multisystem Proteinopathy

Articles related to Multisystem Proteinopathy:

(show all 49)
# Title Authors PMID Year
1
Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family. 61
32036797 2020
2
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected. 61
31848255 2020
3
Multisystem Proteinopathy Mutations in VCP/p97 Increase NPLOC4·UFD1L Binding and Substrate Processing. 61
31623962 2019
4
A mutant MATR3 mouse model to explain multisystem proteinopathy. 61
31056746 2019
5
VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle. 61
30654731 2019
6
Disruption of valosin-containing protein activity causes cardiomyopathy and reveals pleiotropic functions in cardiac homeostasis. 61
31006653 2019
7
Rare Inherited forms of Paget's Disease and Related Syndromes. 61
30756140 2019
8
VCP myopathy: A family with unusual clinical manifestations. 61
30488450 2019
9
Structural characterization of the D290V mutation site in hnRNPA2 low-complexity-domain polymers. 61
30279180 2018
10
Novel valosin-containing protein mutations associated with multisystem proteinopathy. 61
29754758 2018
11
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. 61
29457785 2018
12
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 61
28692196 2018
13
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy. 61
29899994 2018
14
Interaction between the AAA+ ATPase p97 and its cofactor ataxin3 in health and disease: Nucleotide-induced conformational changes regulate cofactor binding. 61
28939772 2017
15
Manipulating the aggregation activity of human prion-like proteins. 61
28934062 2017
16
The AAA+ ATPase p97, a cellular multitool. 61
28819009 2017
17
Familial Early-Onset Paget's Disease of Bone Associated with a Novel hnRNPA2B1 Mutation. 61
28389692 2017
18
VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. 61
28724584 2017
19
Ubiquitin- and ATP-dependent unfoldase activity of P97/VCP•NPLOC4•UFD1L is enhanced by a mutation that causes multisystem proteinopathy. 61
28512218 2017
20
RNA-binding proteins with prion-like domains in health and disease. 61
28389532 2017
21
Effects of Mutations on the Aggregation Propensity of the Human Prion-Like Protein hnRNPA2B1. 61
28137911 2017
22
hnRNPA1 autoregulates its own mRNA expression to remain non-cytotoxic. 61
28000042 2017
23
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis. 61
29131108 2017
24
Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery. 61
28575052 2017
25
p97 Disease Mutations Modulate Nucleotide-Induced Conformation to Alter Protein-Protein Interactions. 61
27267671 2016
26
Cardiac-Restricted Expression of VCP/TER94 RNAi or Disease Alleles Perturbs Drosophila Heart Structure and Impairs Function. 61
27500162 2016
27
Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy. 61
26744327 2016
28
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. 61
27066560 2015
29
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. 61
25716352 2015
30
Phase separation by low complexity domains promotes stress granule assembly and drives pathological fibrillization. 61
26406374 2015
31
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. 61
27066555 2015
32
Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration. 61
26208960 2015
33
The Genetics of Monogenic Frontotemporal Dementia. 61
29213965 2015
34
In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics. 61
25724235 2015
35
A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy. 61
26134519 2015
36
Insights into muscle degeneration from heritable inclusion body myopathies. 61
25729363 2015
37
Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy. 61
25884947 2015
38
Abnormal distribution of heterogeneous nuclear ribonucleoproteins in sporadic inclusion body myositis. 61
24857366 2014
39
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. 61
24119545 2014
40
Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43). 61
24492607 2014
41
Differential loss of prolyl isomerase or chaperone activity of Ran-binding protein 2 (Ranbp2) unveils distinct physiological roles of its cyclophilin domain in proteostasis. 61
24403063 2014
42
Genetics of frontotemporal lobar degeneration: an up-date and diagnosis algorithm. 61
24011980 2013
43
Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function. 61
23791177 2013
44
Motor neuron involvement in multisystem proteinopathy: implications for ALS. 61
23635965 2013
45
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 61
23455423 2013
46
Disease mutations in the prion-like domains of hnRNPA1 and hnRNPA2/B1 introduce potent steric zippers that drive excess RNP granule assembly. 61
25002999 2013
47
Pathological 43-kDa transactivation response DNA-binding protein in older adults with and without severe mental illness. 61
20937952 2010
48
Sporadic amyotrophic lateral sclerosis of long duration is associated with relatively mild TDP-43 pathology. 61
18923836 2009
49
Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease. 61
18004574 2008

Variations for Multisystem Proteinopathy

Expression for Multisystem Proteinopathy

Search GEO for disease gene expression data for Multisystem Proteinopathy.

Pathways for Multisystem Proteinopathy

Pathways related to Multisystem Proteinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.58 VCP UFD1 UBXN6 UBQLN2 NPLOC4
2
Show member pathways
11.43 VCP UFD1 NPLOC4
3 11.38 TIA1 SQSTM1 PABPC1 HNRNPC HNRNPA1 FUS
4
Show member pathways
10.65 HNRNPC HNRNPA2B1 HNRNPA1

GO Terms for Multisystem Proteinopathy

Cellular components related to Multisystem Proteinopathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.33 VCP UFD1 UBXN6 UBQLN2 TIA1 TARDBP
2 cytosol GO:0005829 10.31 VCP UFD1 UBXN6 UBQLN2 TIA1 SQSTM1
3 nucleoplasm GO:0005654 10.17 VCP UFD1 TIA1 TARDBP SQSTM1 OPTN
4 nucleus GO:0005634 10.13 VCP UFD1 UBXN6 UBQLN2 TIA1 TARDBP
5 perinuclear region of cytoplasm GO:0048471 9.91 VCP OPTN FUS DNAJB6 ATXN2
6 spliceosomal complex GO:0005681 9.83 PABPC1 HNRNPC HNRNPA3 HNRNPA2B1 HNRNPA1
7 autophagosome GO:0005776 9.76 UBQLN2 SQSTM1 OPTN C9orf72
8 catalytic step 2 spliceosome GO:0071013 9.65 PABPC1 HNRNPC HNRNPA3 HNRNPA2B1 HNRNPA1
9 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 9.54 VCP UFD1 NPLOC4
10 UFD1-NPL4 complex GO:0036501 9.48 UFD1 NPLOC4
11 cytoplasmic stress granule GO:0010494 9.43 VCP TIA1 TARDBP PABPC1 C9orf72 ATXN2
12 ribonucleoprotein complex GO:1990904 9.23 TIA1 TARDBP PABPC1 HNRNPDL HNRNPA3 HNRNPA2B1

Biological processes related to Multisystem Proteinopathy according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.91 TARDBP PABPC1 HNRNPC HNRNPA3 HNRNPA2B1 HNRNPA1
2 ubiquitin-dependent protein catabolic process GO:0006511 9.88 VCP UFD1 UBQLN2 SQSTM1 NPLOC4
3 autophagy GO:0006914 9.8 VCP UBQLN2 SQSTM1 OPTN C9orf72
4 mRNA splicing, via spliceosome GO:0000398 9.73 PABPC1 HNRNPC HNRNPA3 HNRNPA2B1 HNRNPA1 FUS
5 macroautophagy GO:0016236 9.72 VCP UBXN6 SQSTM1
6 RNA splicing GO:0008380 9.7 TARDBP PABPC1 HNRNPC HNRNPA3 HNRNPA2B1 HNRNPA1
7 error-free translesion synthesis GO:0070987 9.63 VCP UFD1 NPLOC4
8 ubiquitin-dependent ERAD pathway GO:0030433 9.62 VCP UFD1 UBQLN2 NPLOC4
9 3'-UTR-mediated mRNA stabilization GO:0070935 9.59 TARDBP HNRNPC
10 stress granule assembly GO:0034063 9.58 C9orf72 ATXN2
11 negative regulation of telomere maintenance via telomerase GO:0032211 9.58 HNRNPC HNRNPA1
12 ERAD pathway GO:0036503 9.57 VCP UBXN6
13 regulation of autophagosome assembly GO:2000785 9.56 UBQLN2 C9orf72
14 ER-associated misfolded protein catabolic process GO:0071712 9.54 VCP UFD1
15 retrograde protein transport, ER to cytosol GO:0030970 9.54 VCP UFD1 NPLOC4
16 RNA transport GO:0050658 9.52 HNRNPA2B1 ATXN2
17 negative regulation of RIG-I signaling pathway GO:0039536 9.51 UFD1 NPLOC4
18 endosome to lysosome transport via multivesicular body sorting pathway GO:0032510 9.49 VCP UBXN6
19 RNA metabolic process GO:0016070 9.35 HNRNPC HNRNPA3 HNRNPA2B1 HNRNPA1 ATXN2
20 regulation of RNA metabolic process GO:0051252 9.02 TARDBP HNRNPDL HNRNPA3 HNRNPA2B1 HNRNPA1

Molecular functions related to Multisystem Proteinopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.32 VCP UFD1 UBXN6 UBQLN2 TIA1 TARDBP
2 identical protein binding GO:0042802 10.07 VCP TARDBP SQSTM1 OPTN MATR3 HNRNPC
3 nucleic acid binding GO:0003676 9.96 TIA1 TARDBP PABPC1 MATR3 HNRNPDL HNRNPC
4 mRNA binding GO:0003729 9.78 MATR3 HNRNPA3 HNRNPA2B1 HNRNPA1
5 miRNA binding GO:0035198 9.58 MATR3 HNRNPA2B1 HNRNPA1
6 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.55 SQSTM1 OPTN
7 mRNA 3'-UTR binding GO:0003730 9.55 TARDBP PABPC1 HNRNPC HNRNPA2B1 FUS
8 sequence-specific double-stranded DNA binding GO:1990837 9.54 TARDBP HNRNPDL
9 poly(A) binding GO:0008143 9.54 TIA1 PABPC1 HNRNPDL
10 pre-mRNA intronic binding GO:0097157 9.51 TARDBP HNRNPA2B1
11 G-rich strand telomeric DNA binding GO:0098505 9.49 HNRNPA2B1 HNRNPA1
12 N6-methyladenosine-containing RNA binding GO:1990247 9.46 HNRNPC HNRNPA2B1
13 K48-linked polyubiquitin modification-dependent protein binding GO:0036435 9.43 VCP UFD1
14 RNA binding GO:0003723 9.4 VCP TIA1 TARDBP PABPC1 MATR3 HNRNPDL
15 polyubiquitin modification-dependent protein binding GO:0031593 9.26 VCP UFD1 UBQLN2 OPTN

Sources for Multisystem Proteinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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