KEGG   DISEASE: Leopard syndromeHelp
Entry
H01984                      Disease                                

Name
Leopard syndrome
  Supergrp
Noonan syndrome and related disorders [DS:H00523]
Description
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 [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01984  Leopard syndrome
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
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
hsa04722  Neurotrophin signaling pathway
Gene
(LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(LPRD2) RAF1 [HSA:5894] [KO:K04366]
(LPRD3) BRAF [HSA:673] [KO:K04365]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: D044542
OMIM: 151100 611554 613707
Reference
  Authors
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.
  Journal
Nature 465:808-12 (2010)
DOI:10.1038/nature09005
Reference
  Authors
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD
  Title
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
  Journal
Nat Genet 39:1007-12 (2007)
DOI:10.1038/ng2073
Reference
  Authors
Koudova M, Seemanova E, Zenker M
  Title
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
  Journal
Eur J Med Genet 52:337-40 (2009)
DOI:10.1016/j.ejmg.2009.04.006
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