KEGG DISEASE: Fibrodysplasia ossificans progressiva

DISEASE: Fibrodysplasia ossificans progressiva

Entry

H00430                      Disease

Name

Fibrodysplasia ossificans progressiva

Description

Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected individuals harbor missense mutations in the ACVR1A gene that brings about constitutive activation of BMP type I receptor. FOP can be inherited in an autosomal dominant pattern.

Category

Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
  Soft tissue disorders
   Disorders of muscles
    FB31  Calcification or ossification of muscle
     H00430  Fibrodysplasia ossificans progressiva
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00430  Fibrodysplasia ossificans progressiva

Pathway

hsa04350

TGF-beta signaling pathway

Network

nt06507 TGFB signaling

Gene

ACVR1 [HSA:90] [KO:K04675]

Drug

Palovarotene [DR:D09365]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:18328989

Authors

Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM

Title

Fibrodysplasia ossificans progressiva.

Journal

Best Pract Res Clin Rheumatol 22:191-205 (2008)
DOI:10.1016/j.berh.2007.11.007

Reference

PMID:18590993

Authors

Shore EM, Kaplan FS

Title

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP).

Journal

Bone 43:427-33 (2008)
DOI:10.1016/j.bone.2008.05.013

Reference

PMID:16642017 (ACVR1)

Authors

Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS

Title

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

Journal

Nat Genet 38:525-7 (2006)
DOI:10.1038/ng1783

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Drug (1)   
   KEGG DRUG (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (9)   

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