KEGG   DISEASE: HoloprosencephalyHelp
Entry
H00267                      Disease                                

Name
Holoprosencephaly
Description
Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H00267  Holoprosencephaly
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00267  Holoprosencephaly
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
(HPE2) SIX3 [HSA:6496] [KO:K19473]
(HPE3) SHH [HSA:6469] [KO:K11988]
(HPE4) TGIF1 [HSA:7050] [KO:K19383]
(HPE5) ZIC2 [HSA:7546] [KO:K06235]
(HPE7) PTCH1 [HSA:5727] [KO:K06225]
(HPE9) GLI2 [HSA:2736] [KO:K16798]
(HPE11) CDON [HSA:50937] [KO:K20033]
Other DBs
ICD-11: LA05.2
ICD-10: Q04.2
MeSH: D016142
OMIM: 236100 157170 142945 142946 609637 605934 610828 609408 610829 614226
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)
DOI:10.1111/j.1399-0004.2008.00994.x
Reference
  Authors
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
  Title
Holoprosencephaly.
  Journal
Orphanet J Rare Dis 2:8 (2007)
DOI:10.1186/1750-1172-2-8
Reference
  Authors
Cohen MM Jr
  Title
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
  Journal
Birth Defects Res A Clin Mol Teratol 76:658-73 (2006)
DOI:10.1002/bdra.20295
Reference
  Authors
Wallis D, Muenke M
  Title
Mutations in holoprosencephaly.
  Journal
Reference
  Authors
Bae GU, Domene S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS
  Title
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
  Journal
Am J Hum Genet 89:231-40 (2011)
DOI:10.1016/j.ajhg.2011.07.001

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