| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (62.1%) |
24778566 (4001418) |
Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata. Sireteanu A, Volosciuc M, Gramescu M, Gorduza E, Vulpoi C, Frunza I, Rusu C. Balkan J Med Genet. 2013;16(2):67-72. |
| 翼状頚 小さい手 | ||
| 2 (39.0%) |
25257745 |
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. Hyohyeon C, Lee CG. Am J Med Genet A. 2015;167A(1):198-203. |
| 小頭 | ||
| SHH | ||
| ヒト ヒト7番染色体 塩基対形成 子供 子供（未就学） 新生児 染色体欠失 男 | ||
| 2 (39.0%) |
17001668 |
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. Ribeiro LA, Murray JC, Richieri-Costa A. Am J Med Genet A. 2006;140(23):2584-6. |
| 大頭 | ||
| PTCH1 | ||
| p|SUB|A|443|G p|SUB|T|1052|M;RS#:138911275 p|SUB|V|751|G p|SUB|V|908|G;RS#:199476093 rs1131690983 rs138911275 rs1554691359 rs1554698260 rs1554708787 rs199476093 rs28936405 rs45535032 rs781768965 | ||
| Brazil Patched1受容体 Patched受容体 ヒト 全前脳症 変異 磁気共鳴画像法 細胞表面受容体 表現型 | ||
| 4 (37.8%) |
26728615 |
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA. Am J Med Genet A. 2016;170(3):754-9. |
| 両眼接近 肘脱臼 橈骨頭低形成 | ||
| CDON | ||
| Molecular Sequence Data アミノ酸配列 タンパク質構造 ヒト ヘテロ接合体 ミスセンス変異 先天性心疾患 先天性脚変形 全前脳症 分子モデル 女 磁気共鳴画像法 細胞接着分子 脳 腫瘍抑制タンパク質 若年成人 表現型 顔貌 | ||
| 5 (4.0%) |
21368660 |
A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Ribeiro LA, Bertolacini CD, Quiezi RG, Richieri-Costa A. Clin Dysmorphol. 2011;20(3):160-2. |
| 肉芽腫 | ||
| SIX3 | ||
| p|SUB|G|316|D | ||
| Brazil アミノ酸置換 ヒト ヘテロ接合体 ホメオドメインタンパク質 ミスセンス変異 ランゲルハンス細胞組織球症 全前脳症 女 成人 眼タンパク質 磁気共鳴画像法 神経組織タンパク質 表現型 | ||
| 5 (4.0%) |
20583177 |
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients. Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A. Am J Med Genet A. 2010;152A(7):1688-94. |
| 単眼 | ||
| GAS1 GLI2 PTCH1 SHH SIX3 TDGF1 TGIF1 ZIC2 | ||
| rs387907165 rs387907166 | ||
| Brazil GPI修飾タンパク質 ヒト 全前脳症 塩基配列 変異 女 妊娠 子供 子供（未就学） 幼児 成人 新生児 男 磁気共鳴画像法 細胞周期タンパク質 膜タンパク質 顔貌 | ||
| 5 (4.0%) |
17096318 |
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC. Am J Med Genet A. 2006;140(23):2571-6. |
| 無眼球 | ||
| GLI2 PTCH1 | ||
| rs115556836 rs121917708 rs28936404 | ||
| Brazil Znフィンガータンパク質GLI2 クルッペル様因子 ヒト 中枢神経系 全前脳症 変異 女 子供 核タンパク質 無眼球症 磁気共鳴画像法 表現型 鼻 | ||
| 5 (4.0%) |
16752381 |
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype. Santiago G, Abramides DV, De-Vitto LP, Ribeiro LA, Meira SG Jr, Richieri-Costa A. Am J Med Genet A. 2006;140(19):2085-90. |
| 言語障害 | ||
| SHH | ||
| Brazil ヒト ヘッジホッグタンパク質 全前脳症 変異 女 子供 子供（未就学） 成人 男 知能 磁気共鳴画像法 神経心理学的検査 表現型 言語発達障害 認知 |
合計: 35
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000453 | 後鼻孔閉鎖 | Very frequent (99-80%) |
| HP:0006315 | 単一正中上顎切歯 | Very frequent (99-80%) |
| HP:0010644 | 正中鼻狭窄 | Very frequent (99-80%) |
| HP:0000252 | 小頭 | Frequent (79-30%) |
| HP:0000322 | 短い人中 | Frequent (79-30%) |
| HP:0000446 | 狭い鼻梁 | Frequent (79-30%) |
| HP:0000601 | 両眼接近 | Frequent (79-30%) |
| HP:0001249 | 知的障害 | Frequent (79-30%) |
| HP:0001511 | 子宮内成長遅滞 | Frequent (79-30%) |
| HP:0001622 | 早産 | Frequent (79-30%) |
| HP:0004322 | 低身長 | Frequent (79-30%) |
| HP:0010804 | テント状上口唇唇紅部 | Frequent (79-30%) |
| HP:0000062 | 性別不明の外性器 | Occasional (29-5%) |
| HP:0000104 | 腎無発生 | Occasional (29-5%) |
| HP:0000175 | 口蓋裂 | Occasional (29-5%) |
| HP:0000202 | 口腔裂 | Occasional (29-5%) |
| HP:0000463 | 上向きの鼻孔 | Occasional (29-5%) |
| HP:0000486 | 斜視 | Occasional (29-5%) |
| HP:0000612 | コロボーマ | Occasional (29-5%) |
| HP:0000821 | 甲状腺機能低下症 | Occasional (29-5%) |
| HP:0000871 | 汎下垂体機能低下症 | Occasional (29-5%) |
| HP:0001028 | 血管腫 | Occasional (29-5%) |
| HP:0001250 | 発作 | Occasional (29-5%) |
| HP:0001274 | 脳梁無発生 | Occasional (29-5%) |
| HP:0001360 | 全前脳胞症 | Occasional (29-5%) |
| HP:0001636 | Fallot 四徴症 | Occasional (29-5%) |
| HP:0002099 | 喘息 | Occasional (29-5%) |
| HP:0002247 | 十二指腸閉鎖 | Occasional (29-5%) |
| HP:0002564 | 心および大血管奇形 | Occasional (29-5%) |
| HP:0002650 | 側弯 | Occasional (29-5%) |
| HP:0003196 | 短い鼻 | Occasional (29-5%) |
| HP:0003458 | 筋電図: ミオパチー異常 | Occasional (29-5%) |
| HP:0008736 | 陰茎低形成 | Occasional (29-5%) |
| HP:0009800 | 母体糖尿病 | Occasional (29-5%) |
| HP:0009914 | 単眼 | Occasional (29-5%) |
合計: 8
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0000252 | 小頭 | 1 |
| HP:0000528 | 無眼球 | 1 |
| HP:0001249 | 知的障害 | 1 |
| HP:0001250 | 発作 | 1 |
| HP:0003042 | 肘脱臼 | 1 |
| HP:0003997 | 橈骨頭低形成 | 1 |
| HP:0004322 | 低身長 | 1 |
| HP:0032252 | 肉芽腫 | 1 |
合計: 16
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|---|---|
| FGFR1 | fibroblast growth factor receptor 1 | 2260 |
| SUFU | SUFU negative regulator of hedgehog signaling | 51684 |
| PTCH1 | patched 1 | 5727 |
| SIX3 | SIX homeobox 3 | 6496 |
| TGIF1 | TGFB induced factor homeobox 1 | 7050 |
| ZIC2 | Zic family member 2 | 7546 |
| GLI2 | GLI family zinc finger 2 | 2736 |
| TDGF1 | teratocarcinoma-derived growth factor 1 | 6997 |
| FOXH1 | forkhead box H1 | 8928 |
| FGF8 | fibroblast growth factor 8 | 2253 |
| DISP1 | dispatched RND transporter family member 1 | 84976 |
| CDON | cell adhesion associated, oncogene regulated | 50937 |
| NODAL | nodal growth differentiation factor | 4838 |
| DLL1 | delta like canonical Notch ligand 1 | 28514 |
| GAS1 | growth arrest specific 1 | 2619 |
| SHH | sonic hedgehog signaling molecule | 6469 |