KEGG DISEASE: Pallister-Hall syndrome

DISEASE: Pallister-Hall syndrome

Entry

H00502                      Disease

Name

Pallister-Hall syndrome

Description

Pallister-Hall syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused by GLI3 mutations.

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
    H00502  Pallister-Hall syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H00502  Pallister-Hall syndrome

Pathway

hsa04340

Hedgehog signaling pathway

hsa04024

cAMP signaling pathway

Network

nt06501 HH signaling

Gene

GLI3 [HSA:2737] [KO:K06230]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20301638

Authors

Biesecker LG

Title

Pallister-Hall Syndrome

Journal

GeneReviews (1993)

Reference

PMID:15739154

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

LinkDB

» Japanese version

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