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Enchondromatosis, multiple, Ollier type

Disease ID:716
Name:Enchondromatosis, multiple, Ollier type
Associated with:1 target
Dyschondroplasia | Enchondromatosis | Ollier disease | Osteochondromatosis
Database Links
Disease Ontology: DOID:4625
OMIM: 166000
Orphanet: ORPHA296


PTH1 receptor
Comments:  Ollier disease is a form of enchondromatosis. An Arg150 -> Cys polymorphism may be linked to Ollier disease. This has been disputed.
References:  1-4
Mutations:  PTH1 receptor is associated with 1 mutation. Click here for details


No ligand related data available for Enchondromatosis, multiple, Ollier type


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1. Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C. (2008) PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet, 17 (18): 2766-75. [PMID:18559376]

2. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Jüppner H, Andrulis IL, Wunder JS et al.. (2002) A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet, 30 (3): 306-10. [PMID:11850620]

3. Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovée JV. (2004) Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat, 24 (6): 466-73. [PMID:15523647]

4. Silve C, Jüppner H. (2006) Ollier disease. Orphanet J Rare Dis, 1: 37. [PMID:16995932]