KEGG   DISEASE: H00267Help
Entry
H00267                      Disease                                

Name
Holoprosencephaly (HPE)
Description
Holoprosencephaly is characterized by incomplete separation of forebrain and facial components into left and right sides.
Category
Developmental disorder; Nervous system disease
BRITE hierarchy
Pathway
Hedgehog signaling pathway
Gene
(HPE2) SIX3 [HSA:6496]
(HPE3) SHH [HSA:6469] [KO:K11988]
(HPE4) TGIF1 [HSA:7050]
(HPE5) ZIC2 [HSA:7546] [KO:K06235]
(HPE7) PTCH1 [HSA:5727] [KO:K06225]
(HPE9) GLI2 [HSA:2736] [KO:K16798]
Other DBs
Reference
  Authors
Lim AS, Lim TH, Kee SK, Chia P, Raman S, Eu EL, Lim JY, Tien SL
  Title
Holoprosencephaly: an antenatally-diagnosed case series and subject review.
  Journal
Ann Acad Med Singapore 37:594-7 (2008)
Reference
  Authors
Fernandes M, Hebert JM
  Title
The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces.
  Journal
Clin Genet 73:413-23 (2008)
Reference
  Authors
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
  Title
Holoprosencephaly.
  Journal
Orphanet J Rare Dis 2:8 (2007)
Reference
  Authors
Cohen MM Jr
  Title
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
  Journal
Birth Defects Res A Clin Mol Teratol 76:658-73 (2006)
Reference
  Authors
Wallis D, Muenke M
  Title
Mutations in holoprosencephaly.
  Journal
Hum Mutat 16:99-108 (2000)

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