Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 69 （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)
20 (40.2%)	1903499	[Seckel's syndrome]. Corona MF, Lazzini F, Arioni C, Bertani R, de Toni T. Minerva Pediatr. 1991;43(1-2):45-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭大きな嘴鼻


		ヒト出生体重女妊娠妊娠合併症子供小頭症強直性間代性てんかん抗痙攣薬症候群知的障害薬物性奇形表情
22 (39.0%)	30625818	Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report. Kim TH, Kim YU, Song JG, Hwang JH. Korean J Anesthesiol. 2009;56(6):717-719. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭



22 (39.0%)	29504900 (5836840)	Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. BMC Med Genomics. 2018;11(Suppl 1):8. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭

		c\|DEL\|1386\|C
		ヒト中年低身長症変異女小頭症男症候群神経組織タンパク質顔貌
22 (39.0%)	29284336	Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature. Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E. J Matern Fetal Neonatal Med. 2019;32(11):1905-1908. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭


		ヒト低身長症出生前超音波検査女妊娠妊娠中期小頭症成人顔貌
22 (39.0%)	26266004	Antenatal diagnosis of Seckel Syndrome: a rare case report. Vascone C, Di Meglio F, Di Meglio L, Turco LC, Vitale SG, Cignini P, Marilli I, Rapisarda AM, Valenti G, Cianci S. J Prenat Med. 2014;8(3-4):70-2. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭



22 (39.0%)	24739918	Seckel syndrome: a rare case report. Sisodia R, Raj RK, Goel V. J Indian Soc Pedod Prev Dent. 2014;32(2):160-3. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭


		ヒト子供男症候群
22 (39.0%)	24483323	Successful outcome of allogeneic stem cell transplantation in Seckel syndrome. Darrigo LG Jr, Rodrigues MC, Pieroni F, Stracieri AB, Moraes DA, Grecco CE, Dias JB, Sobral AC, Simoes BP. Pediatr Transplant. 2014;18(3):E93-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭


		HLA抗原 Living Donors ヒト中年低身長症再生不良性貧血同属移植女子供対立遺伝子小頭症男移植前処置顔貌骨髄移植
22 (39.0%)	23482443 (3591075)	Palatoplasty in a patient with Seckel syndrome. Garg R, Uppal S, Mittal R, Grewal A, Sood D, Shah S. Ann Maxillofac Surg. 2012;2(1):63-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭



22 (39.0%)	23111928	Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Picard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P. Hum Mutat. 2013;34(2):374-84. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭
		ATR
		rs387907327
		DNA結合タンパク質 DNA複製 Molecular Sequence Data RNAスプライシングウエスタンブロット法ゲノムワイド関連解析ゲノム不安定性シグナル伝達タンパク質セリンスレオニンキナーゼヒトヘテロ接合体マウスミスセンス変異一本鎖DNA 二本鎖DNA切断動物塩基配列女子供対立遺伝子小頭症男細胞周期タンパク質線維芽細胞腫瘍抑制タンパク質蛍光インサイツハイブリダイゼーション法蛍光抗体法血管拡張性失調症変異タンパク質遺伝子欠失
22 (39.0%)	21669506	Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. Fitzgerald B, O'Driscoll M, Chong K, Keating S, Shannon P. Brain Dev. 2012;34(3):238-43. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭


		ヒト低身長症女妊娠小頭症男胎児顔貌

徴候・症状リスト（Orphanetデータベースから取得）

合計: 26

HPO ID	徴候・症状	頻度
HP:0000252	小頭	Very frequent (99-80%)
HP:0000275	狭い顔	Very frequent (99-80%)
HP:0000347	小顎	Very frequent (99-80%)
HP:0000444	凸の鼻梁	Very frequent (99-80%)
HP:0001249	知的障害	Very frequent (99-80%)
HP:0001363	Craniosynostosis	Very frequent (99-80%)
HP:0001511	子宮内成長遅滞	Very frequent (99-80%)
HP:0001852	サンダルギャップ	Very frequent (99-80%)
HP:0002750	骨格骨化遅延	Very frequent (99-80%)
HP:0004209	第5指弯指	Very frequent (99-80%)
HP:0004322	低身長	Very frequent (99-80%)
HP:0004326	悪液質 (カヘキシー)	Very frequent (99-80%)
HP:0007495	早老外観	Very frequent (99-80%)
HP:0011342	軽度の全般性発達遅滞	Very frequent (99-80%)
HP:0100543	認知障害	Very frequent (99-80%)
HP:0000363	耳朶の異常	Frequent (79-30%)
HP:0000387	耳朶欠損	Frequent (79-30%)
HP:0000494	眼瞼裂斜下	Frequent (79-30%)
HP:0000501	緑内障	Frequent (79-30%)
HP:0000682	歯エナメル質異常	Frequent (79-30%)
HP:0001385	股関節異形成	Frequent (79-30%)
HP:0002209	疎な頭髪	Frequent (79-30%)
HP:0005692	関節過伸展	Frequent (79-30%)
HP:0009804	歯数の減少 number of teeth	Frequent (79-30%)
HP:0010579	円錐骨端	Frequent (79-30%)
HP:0002650	側弯	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 41

HPO ID	徴候・症状	症例報告数
HP:0000252	小頭	23
HP:0000347	小顎	7
HP:0004322	低身長	5
HP:0008897	生後の成長遅滞	4
HP:0000448	目立つ鼻	2
HP:0000822	高血圧	2
HP:0001510	成長遅滞	2
HP:0002863	骨髄異形成	2
HP:0003510	重度の低身長	2
HP:0003683	大きな嘴鼻	2
HP:0000085	馬蹄腎	1
HP:0000201	Pierre-Robin シークェンス	1
HP:0000278	下顎後退	1
HP:0000350	小さい額	1
HP:0000501	緑内障	1
HP:0000691	小歯	1
HP:0000787	腎結石	1
HP:0001047	アトピー性皮膚炎	1
HP:0001249	知的障害	1
HP:0001252	筋緊張低下	1
HP:0001279	失神	1
HP:0001511	子宮内成長遅滞	1
HP:0001688	洞性徐脈	1
HP:0001876	汎血球減少症	1
HP:0002090	肺炎	1
HP:0002209	疎な頭髪	1
HP:0002637	大脳虚血	1
HP:0002754	骨髄炎	1
HP:0002812	内反股	1
HP:0006461	近位大腿骨骨端融解	1
HP:0008633	生殖組織欠損	1
HP:0009741	腎硬化症	1
HP:0011451	先天性小頭	1
HP:0012245	性逆転	1
HP:0020073	Hypopigmented macule	1
HP:0031972	Presyncope	1
HP:0040012	Chromosome breakage	1
HP:0100019	皮質白内障	1
HP:0100790	ヘルニア	1
HP:0200034	丘疹	1
HP:0410030	唇裂	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）

合計: 9

Gene Symbol	遺伝子名	Entrez Gene ID
ATR	ATR serine/threonine kinase	545
CENPJ	centromere protein J	55835
PCNT	pericentrin	5116
CEP152	centrosomal protein 152	22995
RBBP8	RB binding protein 8, endonuclease	5932
ATRIP	ATR interacting protein	84126
TRAIP	TRAF interacting protein	10293
PLK4	polo like kinase 4	10733
CENPE	centromere protein E	1062