MCID: INC015
MIFTS: 20

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2

Categories: Genetic diseases, Mental diseases

Aliases & Classifications for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

MalaCards integrated aliases for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

Name: Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 57 75 29 6 73
Multisystem Proteinopathy 2 57 75
Ibmpfd2 57 75
Msp2 57 75
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 2 40
Multisystem Proteinopathy 2; Msp2 57

Classifications:



Summaries for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

UniProtKB/Swiss-Prot : 75 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.

MalaCards based summary : Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2, also known as multisystem proteinopathy 2, is related to malaria and human granulocytic anaplasmosis. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 is HNRNPA2B1 (Heterogeneous Nuclear Ribonucleoprotein A2/B1). Affiliated tissues include bone and skeletal muscle, and related phenotypes are behavioral abnormality and myopathy

Description from OMIM: 615422

Related Diseases for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malaria 10.1
2 human granulocytic anaplasmosis 9.9
3 plasmodium falciparum malaria 9.9

Symptoms & Phenotypes for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Clinical features from OMIM:

615422

Human phenotypes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 HP:0000708
2 myopathy 32 HP:0003198
3 elevated serum creatine phosphokinase 32 HP:0003236
4 skeletal muscle atrophy 32 HP:0003202
5 abnormality of the skeletal system 32 HP:0000924
6 muscular dystrophy 32 HP:0003560
7 muscle fiber atrophy 32 HP:0100295
8 myositis 32 HP:0100614
9 frontotemporal dementia 32 HP:0002145
10 centrally nucleated skeletal muscle fibers 32 HP:0003687

Drugs & Therapeutics for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Search Clinical Trials , NIH Clinical Center for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2

Genetic Tests for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Genetic tests related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 29 HNRNPA2B1

Anatomical Context for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

MalaCards organs/tissues related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

41
Bone, Skeletal Muscle

Publications for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

UniProtKB/Swiss-Prot genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

75
# Symbol AA change Variation ID SNP ID
1 HNRNPA2B1 p.Asp302Val VAR_070591 rs397515326

ClinVar genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.905A> T (p.Asp302Val) single nucleotide variant Pathogenic rs397515326 GRCh37 Chromosome 7, 26232966: 26232966
2 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.905A> T (p.Asp302Val) single nucleotide variant Pathogenic rs397515326 GRCh38 Chromosome 7, 26193346: 26193346
3 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.681T> C (p.Phe227=) single nucleotide variant Benign rs117082250 GRCh37 Chromosome 7, 26236034: 26236034
4 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.681T> C (p.Phe227=) single nucleotide variant Benign rs117082250 GRCh38 Chromosome 7, 26196414: 26196414
5 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.555A> G (p.Arg185=) single nucleotide variant Benign rs34317198 GRCh37 Chromosome 7, 26236235: 26236235
6 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.555A> G (p.Arg185=) single nucleotide variant Benign rs34317198 GRCh38 Chromosome 7, 26196615: 26196615
7 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.153+4T> C single nucleotide variant Benign rs41275982 GRCh38 Chromosome 7, 26197618: 26197618
8 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.153+4T> C single nucleotide variant Benign rs41275982 GRCh37 Chromosome 7, 26237238: 26237238
9 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.351C> T (p.Gly117=) single nucleotide variant Likely benign rs766409233 GRCh37 Chromosome 7, 26236587: 26236587
10 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.351C> T (p.Gly117=) single nucleotide variant Likely benign rs766409233 GRCh38 Chromosome 7, 26196967: 26196967
11 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.833A> G (p.Asn278Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 26193619: 26193619
12 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.833A> G (p.Asn278Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 26233239: 26233239
13 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.757+10C> T single nucleotide variant Likely benign rs768374617 GRCh38 Chromosome 7, 26195837: 26195837
14 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.757+10C> T single nucleotide variant Likely benign rs768374617 GRCh37 Chromosome 7, 26235457: 26235457
15 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.69C> G (p.Leu23=) single nucleotide variant Likely benign rs774999756 GRCh37 Chromosome 7, 26237326: 26237326
16 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.69C> G (p.Leu23=) single nucleotide variant Likely benign rs774999756 GRCh38 Chromosome 7, 26197706: 26197706
17 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.780C> T (p.Pro260=) single nucleotide variant Likely benign rs141885504 GRCh37 Chromosome 7, 26233292: 26233292
18 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.780C> T (p.Pro260=) single nucleotide variant Likely benign rs141885504 GRCh38 Chromosome 7, 26193672: 26193672
19 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.1020_1028delCAGTGGAGG (p.Ser344_Gly346del) deletion Uncertain significance GRCh38 Chromosome 7, 26192550: 26192558
20 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.1020_1028delCAGTGGAGG (p.Ser344_Gly346del) deletion Uncertain significance GRCh37 Chromosome 7, 26232170: 26232178
21 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.705C> T (p.Gly235=) single nucleotide variant Uncertain significance rs767263210 GRCh37 Chromosome 7, 26235519: 26235519
22 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.705C> T (p.Gly235=) single nucleotide variant Uncertain significance rs767263210 GRCh38 Chromosome 7, 26195899: 26195899
23 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.324T> C (p.His108=) single nucleotide variant Benign rs142061533 GRCh38 Chromosome 7, 26196994: 26196994
24 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.324T> C (p.His108=) single nucleotide variant Benign rs142061533 GRCh37 Chromosome 7, 26236614: 26236614
25 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.877+6A> G single nucleotide variant Benign rs144309126 GRCh37 Chromosome 7, 26233189: 26233189
26 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.877+6A> G single nucleotide variant Benign rs144309126 GRCh38 Chromosome 7, 26193569: 26193569
27 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.669A> G (p.Pro223=) single nucleotide variant Likely benign rs752086550 GRCh37 Chromosome 7, 26236046: 26236046
28 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.669A> G (p.Pro223=) single nucleotide variant Likely benign rs752086550 GRCh38 Chromosome 7, 26196426: 26196426

Expression for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Search GEO for disease gene expression data for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2.

Pathways for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

GO Terms for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Sources for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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