Intellectual disability-seizures-macrocephaly-obesity syndrome

Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 2 (症例報告)

  


(表示件数)
対応する徴候・症状  遺伝子  変異  キーワード(MeSH)
順位
(類似度)
PMID
(PMCID)
1
(4.0%)
12377416
Translocation (8;12)(q13;p13) during disease progression in acute myelomonocytic leukemia with t(11;19)(q23;p13.1).
Yamamoto K, Nagata K, Tsurukubo Y, Inagaki K, Ono R, Taki T, Hayashi Y, Hamaguchi H.
Cancer Genet Cytogenet. 2002;137(1):64-7.
白血病
ANPEP CD14 CD2 CD33 CD34 H3F3AP4
DNAプライマー DNA結合タンパク質 Molecular Sequence Data PCR法 Znフィンガー アミノ酸配列 エクソン ヒストン・リジン-N-メチル基転移酵素 ヒト ヒト11番染色体 ヒト12番染色体 ヒト19番染色体 ヒト8番染色体 ペプチド伸長因子 免疫表現型検査 塩基配列 染色体マッピング 染色体検査 病状悪化 癌原遺伝子 腫瘍タンパク質 蛍光インサイツハイブリダイゼーション法 転写伸長因子 遺伝子組換え融合タンパク質 遺伝子転写 骨髄性リンパ性白血病タンパク質
1
(4.0%)
12028654
Diffuse type of giant-cell tumor of tendon sheath: an ultrastructural study of two cases with cytogenetic support.
Ferrer J, Namiq A, Carda C, Lopez-Gines C, Tawfik O, Llombart-Bosch A.
Ultrastruct Pathol. 2002;26(1):15-21.
泡沫細胞
CD68 ENO2 VIM
ヒト 免疫酵素法 培養腫瘍細胞 巨細胞 巨細胞腫 成人 染色体彩色 神経分泌系 腫瘍DNA 腫瘍タンパク質 腫瘍マーカー 軟部腫瘍
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 50

HPO ID 徴候・症状 頻度
HP:0000158 巨舌 Very frequent (99-80%)
HP:0000256 大頭 Very frequent (99-80%)
HP:0000311 丸い顔 Very frequent (99-80%)
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000365 難聴 Very frequent (99-80%)
HP:0000483 乱視 Very frequent (99-80%)
HP:0000486 斜視 Very frequent (99-80%)
HP:0000494 眼瞼裂斜下 Very frequent (99-80%)
HP:0000508 眼瞼下垂 Very frequent (99-80%)
HP:0000577 外斜視 Very frequent (99-80%)
HP:0000629 大きな眼窩周囲 Very frequent (99-80%)
HP:0000646 弱視 Very frequent (99-80%)
HP:0000684 歯萌出遅延 Very frequent (99-80%)
HP:0000750 発語および言語発達遅延 Very frequent (99-80%)
HP:0000805 遺尿 Very frequent (99-80%)
HP:0000964 湿疹 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001250 発作 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001269 片側不全麻痺 Very frequent (99-80%)
HP:0001290 全身性筋緊張低下 Very frequent (99-80%)
HP:0001508 成長障害 (成長不全) Very frequent (99-80%)
HP:0001513 肥満 Very frequent (99-80%)
HP:0001634 僧帽弁逸脱 Very frequent (99-80%)
HP:0001716 Wolff-Parkinson-White 症候群 Very frequent (99-80%)
HP:0001760 足の異常 Very frequent (99-80%)
HP:0002019 便秘 Very frequent (99-80%)
HP:0002046 熱不耐性 Very frequent (99-80%)
HP:0002136 幅広歩行 Very frequent (99-80%)
HP:0002705 高狭口蓋 Very frequent (99-80%)
HP:0006482 歯形態異常 Very frequent (99-80%)
HP:0012680 松果体異常 Very frequent (99-80%)
HP:0100703 舌突出 Very frequent (99-80%)
HP:0000160 狭い口 Occasional (29-5%)
HP:0000179 分厚い下口唇唇紅部 Occasional (29-5%)
HP:0000280 粗な顔貌 Occasional (29-5%)
HP:0000286 内眼角贅皮 Occasional (29-5%)
HP:0000347 小顎 Occasional (29-5%)
HP:0000358 耳介後方回転 Occasional (29-5%)
HP:0000444 凸の鼻梁 Occasional (29-5%)
HP:0000574 分厚い眉毛 Occasional (29-5%)
HP:0000718 攻撃的行動 Occasional (29-5%)
HP:0000722 強迫性行動 Occasional (29-5%)
HP:0001051 脂漏性皮膚炎 Occasional (29-5%)
HP:0001763 扁平足 Occasional (29-5%)
HP:0002003 大きな額 Occasional (29-5%)
HP:0002079 脳梁低形成 Occasional (29-5%)
HP:0003186 逆位乳頭 Occasional (29-5%)
HP:0004209 第5指弯指 Occasional (29-5%)
HP:0011246 対耳輪上行脚未発達 Occasional (29-5%)


徴候・症状リスト(症例報告から取得)

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID