DISEASE: Chondrodysplasia with joint dislocations, GPAPP type
Entry
H02306 Disease
Name
Chondrodysplasia with joint dislocations, GPAPP type
Description
Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused by mutations in IMPAD1, the gene encoding Golgi-resident PAP phosphatase (gPAPP). IMPAD1 inactivation has been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation.
Category
Congenital malformation
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
H02306 Chondrodysplasia with joint dislocations, GPAPP type
Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafe L, Veltman JA, Zabel B, Superti-Furga A
Title
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
