KEGG DISEASE: Greig cephalopolysyndactyly syndrome

DISEASE: Greig cephalopolysyndactyly syndrome

Entry

H02161                      Disease

Name

Greig cephalopolysyndactyly syndrome

Description

Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H02161  Greig cephalopolysyndactyly syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H02161  Greig cephalopolysyndactyly syndrome

Pathway

hsa04340

Hedgehog signaling pathway

Network

nt06501 HH signaling

Gene

GLI3 [HSA:2737] [KO:K06230]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:18435847

Authors

Biesecker LG

Title

The Greig cephalopolysyndactyly syndrome.

Journal

Orphanet J Rare Dis 3:10 (2008)
DOI:10.1186/1750-1172-3-10

Reference

PMID:12414818

Authors

Elson E, Perveen R, Donnai D, Wall S, Black GC

Title

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

Journal

J Med Genet 39:804-6 (2002)
DOI:10.1136/jmg.39.11.804

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

DBGET integrated database retrieval system