KEGG   DISEASE: Pallister-Hall syndromeHelp
Entry
H00502                      Disease                                

Name
Pallister-Hall syndrome
Description
Pallister-Hall syndrome is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. Pallister-Hall syndrome is caused by GLI3 mutations.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00502  Pallister-Hall 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
    H00502  Pallister-Hall syndrome
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
GLI3 [HSA:2737] [KO:K06230]
Other DBs
ICD-11: LD2F.1Y
ICD-10: D33.0
MeSH: D054975
OMIM: 146510
Reference
  Authors
Biesecker LG
  Title
Pallister-Hall Syndrome
  Journal
GeneReviews (1993)
Reference
  Authors
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
  Title
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
  Journal
Am J Hum Genet 76:609-22 (2005)
DOI:10.1086/429346

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