KEGG   DISEASE: 全前脳胞症
エントリ  
H00267                                                             
名称    
全前脳胞症
概要    
Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   神経系の構造的発達異常
    LA05  脳の構造的発達異常
     H00267  全前脳胞症
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06501  HH シグナリング
   H00267  全前脳胞症
 細胞プロセス
  nt06512  染色体接着と分離
   H00267  全前脳胞症
パスウェイ 
hsa04340  Hedgehog signaling pathway
hsa04110 Cell cycle   
ネットワーク
nt06501 HH signaling
nt06512 Chromosome cohesion and segregation
病因遺伝子 
(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]
リンク   
ICD-11: LA05.2
ICD-10: Q04.2
MeSH: D016142
OMIM: 236100 157170 142945 142946 609637 605934 610828 609408 610829 614226 618500 301043 619895
文献    
  著者
Fernandes M, Hebert JM
  タイトル
The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces.
  雑誌
Clin Genet 73:413-23 (2008)
DOI:10.1111/j.1399-0004.2008.00994.x
文献    
  著者
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
  タイトル
Holoprosencephaly.
  雑誌
Orphanet J Rare Dis 2:8 (2007)
DOI:10.1186/1750-1172-2-8
文献    
  著者
Cohen MM Jr
  タイトル
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
  雑誌
Birth Defects Res A Clin Mol Teratol 76:658-73 (2006)
DOI:10.1002/bdra.20295
文献    
PMID:10369266 (SIX3)
  著者
Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M
  タイトル
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
  雑誌
Nat Genet 22:196-8 (1999)
DOI:10.1038/9718
文献    
PMID:8896572 (SHH)
  著者
Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M
  タイトル
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
  雑誌
Nat Genet 14:357-60 (1996)
DOI:10.1038/ng1196-357
文献    
PMID:10835638 (TGIF1)
  著者
Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massague J, Muenke M, Elledge SJ
  タイトル
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
  雑誌
Nat Genet 25:205-8 (2000)
DOI:10.1038/76074
文献    
PMID:9771712 (ZIC2)
  著者
Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M
  タイトル
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
  雑誌
Nat Genet 20:180-3 (1998)
DOI:10.1038/2484
文献    
PMID:11941477 (PTCH1)
  著者
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M
  タイトル
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
  雑誌
Hum Genet 110:297-301 (2002)
DOI:10.1007/s00439-002-0695-5
文献    
PMID:14581620 (GLI2)
  著者
Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M
  タイトル
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
  雑誌
Proc Natl Acad Sci U S A 100:13424-9 (2003)
DOI:10.1073/pnas.2235734100
文献    
PMID:21802063 (CDON)
  著者
Bae GU, Domene S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS
  タイトル
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
  雑誌
Am J Hum Genet 89:231-40 (2011)
DOI:10.1016/j.ajhg.2011.07.001
文献    
PMID:31006513 (CNOT1)
  著者
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
  タイトル
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
  雑誌
Am J Hum Genet 104:985-989 (2019)
DOI:10.1016/j.ajhg.2019.03.018
文献    
PMID:31334757 (STAG2)
  著者
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
  タイトル
Cohesin complex-associated holoprosencephaly.
  雑誌
Brain 142:2631-2643 (2019)
DOI:10.1093/brain/awz210
文献    
PMID:33820834 (PLCH1)
  著者
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
  タイトル
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
  雑誌
J Med Genet 59:358-365 (2022)
DOI:10.1136/jmedgenet-2020-107237
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