视交叉前脑无裂畸形

Septopreoptic holoprosencephaly

ORPHA:280195疾病亚型

定义

视隔前脑无裂畸形（HPE）是一种非常罕见的大叶性HPE（见该词条）的亚型，其特征是局限于端脑间隔/或视前区的中线融合，无明显额叶新皮层融合。

别名

视交叉HPE

基本事实

遗传方式: 多基因/多因素
发病年龄: 婴儿期、新生儿期

相关基因 15

基因	名称	关联类型
PTCH1	patched 1	Disease-causing germline mutation(s) in
SHH	sonic hedgehog signaling molecule	Disease-causing germline mutation(s) in
SIX3	SIX homeobox 3	Disease-causing germline mutation(s) in
TGIF1	TGFB induced factor homeobox 1	Disease-causing germline mutation(s) in
ZIC2	Zic family zinc finger 2	Disease-causing germline mutation(s) in
GLI2	GLI family zinc finger 2	Disease-causing germline mutation(s) in
CRIPTO	cripto, EGF-CFC family member	Disease-causing germline mutation(s) in
FOXH1	forkhead box H1	Disease-causing germline mutation(s) in
STIL	STIL centriolar assembly protein	Disease-causing germline mutation(s) in
FGF8	fibroblast growth factor 8	Disease-causing germline mutation(s) in
DISP1	dispatched RND transporter family member 1	Disease-causing germline mutation(s) in
CDON	cell adhesion associated, oncogene regulated	Disease-causing germline mutation(s) in
NODAL	nodal growth differentiation factor	Disease-causing germline mutation(s) in
DLL1	delta like canonical Notch ligand 1	Disease-causing germline mutation(s) in
GAS1	growth arrest specific 1	Disease-causing germline mutation(s) in

临床表型 24

常见 79–30%13

胼胝体形态异常 HP:0001273
肋骨形态异常 HP:0000772
椎骨形态异常 HP:0003468
中脑形态异常 HP:0002418
垂体前叶功能减退症 HP:0000830
中枢性尿崩症 HP:0000863
语言表达延迟 HP:0002474
全身性肌张力减低 HP:0001290
冲动 HP:0100710
智力障碍 HP:0001249
性早熟 HP:0000826
注意力短暂 HP:0000736
特定的学习障碍 HP:0001328

偶见 29–5%11

透明隔形态异常 HP:0007375
肛门前置 HP:0001545
主动脉缩窄 HP:0001680
吞咽困难 HP:0002015
额筛部脑膨出 HP:0007330
婴儿期胃造口管饲 HP:0011471
脑桥发育不良 HP:0012110
巨脑 HP:0001355
小头畸形 HP:0000252
外侧裂周区多小脑回 HP:0012650
菱形脑突触 HP:0031913

外部标识与链接

Orphanet OMIM:157170 OMIM:609637 OMIM:610829ICD-10 Q04.2ICD-11 LA05.2ClinicalTrials.gov 检索

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本页数据来源

疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
中文病名：Orphanet 中文包，冻结于 2020-06-01
表型中文标签：HPO 简体中文翻译（CHPO 上游成果）