Melorheostosis (MEL) is a rare sclerosing hyperostosis characterized by asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02631 Melorheostosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H02631 Melorheostosis
Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, Meylan F, Hanson EP, Lange E, Katz J, Roschger P, Klaushofer K, Cowen EW, Siegel RM, Marini JC, Bhattacharyya T
Title
Somatic activating mutations in MAP2K1 cause melorheostosis.
