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Joubert综合征

Isolated Joubert syndrome

ORPHA:475疾病亚型

定义 英文原文（暂无中文）

A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

别名

小脑实质障碍症IV型

基本事实

遗传方式
常染色体隐性
发病年龄
产前
患病率
1-9 / 1 000 000（Italy）

相关基因 30

基因名称关联类型
AHI1Abelson helper integration site 1Disease-causing germline mutation(s) in
SUFUSUFU negative regulator of hedgehog signalingDisease-causing germline mutation(s) in
TMEM67transmembrane protein 67Disease-causing germline mutation(s) in
HYLS1HYLS1 centriolar and ciliogenesis associatedDisease-causing germline mutation(s) in
MKS1MKS transition zone complex subunit 1Disease-causing germline mutation(s) in
OFD1OFD1 centriole and centriolar satellite proteinDisease-causing germline mutation(s) in
ARL13BARF like GTPase 13BDisease-causing germline mutation(s) in
INPP5Einositol polyphosphate-5-phosphatase EDisease-causing germline mutation(s) in
TCTN2tectonic family member 2Disease-causing germline mutation(s) in
B9D1B9 domain containing 1Disease-causing germline mutation(s) in
TCTN1tectonic family member 1Disease-causing germline mutation(s) in
B9D2B9 domain containing 2Disease-causing germline mutation(s) in
TMEM237transmembrane protein 237Disease-causing germline mutation(s) in
CEP41centrosomal protein 41Disease-causing germline mutation(s) (loss of function) in
CPLANE1ciliogenesis and planar polarity effector complex subunit 1Disease-causing germline mutation(s) in
TCTN3tectonic family member 3Disease-causing germline mutation(s) in
CSPP1centrosome and spindle pole associated protein 1Disease-causing germline mutation(s) (loss of function) in
PDE6Dphosphodiesterase 6DDisease-causing germline mutation(s) in
CEP120centrosomal protein 120Disease-causing germline mutation(s) in
KIAA0586KIAA0586Disease-causing germline mutation(s) in
CEP104centrosomal protein 104Disease-causing germline mutation(s) in
KATNIPkatanin interacting proteinDisease-causing germline mutation(s) (loss of function) in
IFT74intraflagellar transport 74Disease-causing germline mutation(s) in
KIAA0753KIAA0753Disease-causing germline mutation(s) in
ARMC9armadillo repeat containing 9Disease-causing germline mutation(s) in
PIBF1progesterone immunomodulatory binding factor 1Disease-causing germline mutation(s) in
ARL3ARF like GTPase 3Disease-causing germline mutation(s) in
CBY1chibby 1, beta catenin antagonistDisease-causing germline mutation(s) (loss of function) in
TOGARAM1TOG array regulator of axonemal microtubules 1Disease-causing germline mutation(s) in
TMEM218transmembrane protein 218Disease-causing germline mutation(s) (loss of function) in

临床表型 37

极常见 99–80%9

  • 呼吸模式异常 HP:0002793
  • 呼吸暂停 HP:0002104
  • 共济失调 HP:0001251
  • 小脑蚓部发育不全 HP:0001320
  • 阵发性呼吸急促 HP:0002876
  • 全面发育迟缓 HP:0001263
  • 肌张力减退 HP:0001252
  • 智力障碍 HP:0001249
  • 眼球运动失用 HP:0000657

常见 79–30%5

  • 双侧顶骨部收窄 HP:0004422
  • 婴儿期喂养困难 HP:0008872
  • 步态异常 HP:0001288
  • 长脸 HP:0000276
  • 眼球震颤 HP:0000639

偶见 29–5%23

  • 心血管系统形态异常 HP:0030680
  • 椎体形态异常 HP:0003312
  • 神经细胞迁移异常 HP:0002269
  • 下丘脑-垂体轴异常 HP:0000864
  • 无神经节性巨结肠 HP:0002251
  • 鼻孔前翻 HP:0000463
  • 胼胝体发育缺陷/发育不全 HP:0007370
  • 脑膨出 HP:0002084
  • 多趾 HP:0001829
  • 多指 HP:0001161
  • 高拱形眉毛 HP:0002553
  • 脑积水 HP:0000238
  • 虹膜缺损 HP:0000612
  • 低位耳 HP:0000369
  • 口面裂 HP:0000202
  • 多小脑回 HP:0002126
  • 鼻梁突出 HP:0000426
  • 上睑下垂 HP:0000508
  • 脊柱侧弯 HP:0002650
  • 癫痫发作 HP:0001250
  • 全内脏反位 HP:0001696
  • 斜视 HP:0000486
  • 震颤 HP:0001337

外部标识与链接

OrphanetOMIM:213300OMIM:300804OMIM:608091MONDO:0018772GARD:6802ICD-10 Q04.3ICD-11 LD20.00ClinicalTrials.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）