KEGG   DISEASE: Holoprosencephaly
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
Related
pathway
hsa04340  Hedgehog signaling pathway
hsa04360  Axon guidance
Network
nt06501  HH signaling
nt06512  Chromosome cohesion and segregation
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]
(HPE12) CNOT1 [HSA:23019] [KO:K12604]
(HPE13) STAG2 [HSA:10735] [KO:K06671]
(HPE14) PLCH1 [HSA:23007] [KO:K19006]
Other DBs
ICD-11: LA05.2
ICD-10: Q04.2
MeSH: D016142
OMIM: 236100 157170 142945 142946 609637 605934 610828 609408 610829 614226 618500 301043 619895
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
PMID:10369266 (SIX3)
  Authors
Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M
  Title
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
  Journal
Nat Genet 22:196-8 (1999)
DOI:10.1038/9718
Reference
PMID:8896572 (SHH)
  Authors
Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M
  Title
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
  Journal
Nat Genet 14:357-60 (1996)
DOI:10.1038/ng1196-357
Reference
PMID:10835638 (TGIF1)
  Authors
Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massague J, Muenke M, Elledge SJ
  Title
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
  Journal
Nat Genet 25:205-8 (2000)
DOI:10.1038/76074
Reference
PMID:9771712 (ZIC2)
  Authors
Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M
  Title
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
  Journal
Nat Genet 20:180-3 (1998)
DOI:10.1038/2484
Reference
PMID:11941477 (PTCH1)
  Authors
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M
  Title
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
  Journal
Hum Genet 110:297-301 (2002)
DOI:10.1007/s00439-002-0695-5
Reference
PMID:14581620 (GLI2)
  Authors
Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M
  Title
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
  Journal
Proc Natl Acad Sci U S A 100:13424-9 (2003)
DOI:10.1073/pnas.2235734100
Reference
PMID:21802063 (CDON)
  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
Reference
PMID:31006513 (CNOT1)
  Authors
De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I
  Title
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
  Journal
Am J Hum Genet 104:985-989 (2019)
DOI:10.1016/j.ajhg.2019.03.018
Reference
PMID:31334757 (STAG2)
  Authors
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M
  Title
Cohesin complex-associated holoprosencephaly.
  Journal
Brain 142:2631-2643 (2019)
DOI:10.1093/brain/awz210
Reference
PMID:33820834 (PLCH1)
  Authors
Drissi I, Fletcher E, Shaheen R, Nahorski M, Alhashem AM, Lisgo S, Fernandez-Jaen A, Schon K, Tlili-Graiess K, Smithson SF, Lindsay S, J Sharpe H, Alkuraya FS, Woods G
  Title
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
  Journal
J Med Genet 59:358-365 (2022)
DOI:10.1136/jmedgenet-2020-107237
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