IBMPFD2
MCID: INC015
MIFTS: 27

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 (IBMPFD2)

Categories: Bone diseases, 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 58 76 30 6 74
Multisystem Proteinopathy 2 58 76
Ibmpfd2 58 76
Msp2 58 76
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 2 41
Multisystem Proteinopathy 2; Msp2 58

Classifications:



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

UniProtKB/Swiss-Prot : 76 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). The drugs Artemether and Lumefantrine have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and testes, 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 in the Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 family:

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2

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 10.3
2 human granulocytic anaplasmosis 10.1
3 plasmodium falciparum malaria 10.1

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 33 HP:0000708
2 myopathy 33 HP:0003198
3 skeletal muscle atrophy 33 HP:0003202
4 abnormality of the skeletal system 33 HP:0000924
5 muscular dystrophy 33 HP:0003560
6 muscle fiber atrophy 33 HP:0100295
7 myositis 33 HP:0100614
8 centrally nucleated skeletal muscle fibers 33 HP:0003687
9 frontotemporal dementia 33 HP:0002145
10 elevated serum creatine kinase 33 HP:0003236

Clinical features from OMIM:

615422

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

Drugs for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artemether Approved Phase 4,Phase 3 71963-77-4 119380 68911
2
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
3
Amodiaquine Approved, Investigational Phase 4,Phase 3 86-42-0 2165
4
Primaquine Approved Phase 4 90-34-6 4908
5
Artesunate Approved, Investigational Phase 4,Phase 3 88495-63-0 5464098 6917864
6 Anti-Infective Agents Phase 4,Phase 3,Phase 2
7 Antimalarials Phase 4,Phase 3
8 Antiparasitic Agents Phase 4,Phase 3,Phase 2
9 Antiprotozoal Agents Phase 4,Phase 3,Phase 2
10 Artemether, Lumefantrine Drug Combination Phase 4,Phase 3
11 Antiviral Agents Phase 4,Phase 3
12 Anthelmintics Phase 4,Phase 3,Phase 2
13
Mefloquine Approved, Investigational Phase 3 53230-10-7 4046
14
Quinine Approved Phase 3 130-95-0 8549 3034034
15
Acetaminophen Approved Phase 3 103-90-2 1983
16
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
17
Albendazole Approved, Vet_approved Phase 2, Phase 3 54965-21-8 2082
18
Ivermectin Approved, Investigational, Vet_approved Phase 2, Phase 3 70288-86-7 6474909
19
Piperaquine Experimental, Investigational Phase 3 4085-31-8 5079497
20
Dihydroartemisinin Experimental, Investigational Phase 3 71939-50-9 6918483
21 Artemisinins Phase 3
22 Artemisinine Phase 3
23 Analgesics, Non-Narcotic Phase 3
24 Antibiotics, Antitubercular Phase 3
25 Analgesics Phase 3
26 Red Cinchona Phase 3
27 Antipyretics Phase 3
28 Peripheral Nervous System Agents Phase 3
29 Neuromuscular Agents Phase 3
30 Anti-Bacterial Agents Phase 3
31 Antimitotic Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Artesunate + Amodiaquine With SLD of Primaquine for Treatment of Falciparum Malaria in Zanzibar Completed NCT03773536 Phase 4 Artesunate-amodiaquine given with single low dose primaquine
2 Efficacy of Artesunate + Amodiaquine Versus Artemether-lumefantrine for Falciparum Malaria in Zanzibar, 2005 Completed NCT03768908 Phase 4 Artemether-lumefantrine;Artesunate + Amodiaquine
3 Tolerability and Efficacy of Artemether-Lumefantrine Versus Artesunate + Amodiaquine in Zanzibar Completed NCT03764527 Phase 4 Artemether-lumefantrine;Coadministered Artesunate plus Amodiaquine
4 Evaluation of the Efficacy of Artemisinin Combination Therapy in Kenya Unknown status NCT01899820 Phase 3 Artemether lumefantrine;Dihydroartemisinin piperaquine
5 Artemisinin-Based Combination Therapy: Clinical Trials in Cameroon Completed NCT00297882 Phase 3 Artemether-Lumefantrine , Amodiaquine-Artesunate
6 Antimalaria Drugs Susceptibility Testing for an Effective Management of Infected Patients in Sub-Sahara Africa Completed NCT02974348 Phase 3 Arthemeter-lumefantrine;Artesunate mefloquine;Dihydroartemisinin piperaquine;Paracetamol;Amoxicillin;Quinine
7 Repeat Ivermectin Mass Drug Administrations for Control of Malaria: a Pilot Safety and Efficacy Study Completed NCT02509481 Phase 2, Phase 3 Ivermectin;Albendazole

Search 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 30 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:

42
Bone, Skeletal Muscle, Testes

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:

76
# 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 30)
# 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 rs1554331125 GRCh38 Chromosome 7, 26193619: 26193619
12 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.833A> G (p.Asn278Ser) single nucleotide variant Uncertain significance rs1554331125 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 rs754021381 GRCh38 Chromosome 7, 26192550: 26192558
20 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.1020_1028delCAGTGGAGG (p.Ser344_Gly346del) deletion Uncertain significance rs754021381 GRCh37 Chromosome 7, 26232170: 26232178
21 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.705C> T (p.Gly235=) single nucleotide variant Uncertain significance rs767263210 GRCh38 Chromosome 7, 26195899: 26195899
22 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.705C> T (p.Gly235=) single nucleotide variant Uncertain significance rs767263210 GRCh37 Chromosome 7, 26235519: 26235519
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 GRCh38 Chromosome 7, 26193569: 26193569
26 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.877+6A> G single nucleotide variant Benign rs144309126 GRCh37 Chromosome 7, 26233189: 26233189
27 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.669A> G (p.Pro223=) single nucleotide variant Likely benign rs752086550 GRCh38 Chromosome 7, 26196426: 26196426
28 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.669A> G (p.Pro223=) single nucleotide variant Likely benign rs752086550 GRCh37 Chromosome 7, 26236046: 26236046
29 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.695-4A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 26235533: 26235533
30 HNRNPA2B1 NM_031243.2(HNRNPA2B1): c.695-4A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 26195913: 26195913

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

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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...

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