KEGG DISEASE: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

KEGG

DISEASE: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Entry

H02031                      Disease

Name

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Supergrp

Frontotemporal lobar degeneration [DS:H00078]

Description

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone. Some cases are caused by mutations in the VCP gene, which encodes the AAA+ ATPase, a ubiquitin-dependent segregase. Recently, pathogenic mutations have been defined in heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1.

Category

Nervous system disease; Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A41  Idiopathic inflammatory myopathy
    H02031  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06509  DNA replication
   H02031  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Network

nt06509 DNA replication

Gene

(IBMPFD1) VCP [HSA:7415] [KO:K13525] [K13525]
(IBMPFD2) HNRNPA2B1 [HSA:3181] [KO:K13158]
(IBMPFD3) HNRNPA1 [HSA:3178] [KO:K12741]

Other DBs

ICD-11:

OMIM:

167320 615422 615424

Reference

PMID:16247064 (IBMPFD1)

Authors

Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A

Title

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.

Journal

Neurology 65:1304-5 (2005)
DOI:10.1212/01.wnl.0000180407.15369.92

Reference

PMID:27990419 (IBMPFD1)

Authors

Tang WK, Xia D

Title

Mutations in the Human AAA(+) Chaperone p97 and Related Diseases.

Journal

Front Mol Biosci 3:79 (2016)
DOI:10.3389/fmolb.2016.00079

Reference

PMID:23455423 (IBMPFD2_3)

Authors

Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP

Title

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

Journal

Nature 495:467-73 (2013)
DOI:10.1038/nature11922

LinkDB

» Japanese version

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