DISEASE: Contractures, pterygia, and spondylocarpotarsal fusion syndrome
Entry
H02717 Disease
Name
Contractures, pterygia, and spondylocarpotarsal fusion syndrome
Description
Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Mutations of MYH3 (myosin heavy chain 3) are responsible for this disease. MYH3 is mainly expressed in embryonic development, as well in the adult regenerative distal muscle tissue.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H02717 Contractures, pterygia, and spondylocarpotarsal fusion syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02717 Contractures, pterygia, and spondylocarpotarsal fusion syndrome
Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, Liu S, Lindelof H, Wang S, Hammarsjo A, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O, Zhang TJ, Grigelioniene G, Wu N
Title
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
