LEOPARD syndrome is an autosomal dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-MAPK signalling diseases. Its main features are lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. Approximately 90% of LEOPARD syndrome cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. But it may also be caused by mutations in RAF1 or BRAF.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01984 Leopard syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01984 Leopard syndrome
Cellular process
nt06535 Efferocytosis
H01984 Leopard syndrome
Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR
Title
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
