非综合征型常染色体隐性遗传性智力障碍

Autosomal recessive non-syndromic intellectual disability

ORPHA:88616疾病亚型

别名

AR-NSID、NS-ARID

基本事实

遗传方式: 常染色体隐性
发病年龄: 儿童期、婴儿期

相关基因 54

基因	名称	关联类型
PRSS12	serine protease 12	Disease-causing germline mutation(s) in
CC2D1A	coiled-coil and C2 domain containing 1A	Disease-causing germline mutation(s) in
TPR	translocated promoter region, nuclear basket protein	Disease-causing germline mutation(s) in
CRBN	cereblon	Disease-causing germline mutation(s) in
TUSC3	tumor suppressor candidate 3	Disease-causing germline mutation(s) in
MED25	mediator complex subunit 25	Disease-causing germline mutation(s) in
GRIK2	glutamate ionotropic receptor kainate type subunit 2	Disease-causing germline mutation(s) (loss of function) in
TRAPPC9	trafficking protein particle complex subunit 9	Disease-causing germline mutation(s) (loss of function) in
AIMP1	aminoacyl tRNA synthetase complex interacting multifunctional protein 1	Disease-causing germline mutation(s) (loss of function) in
TECR	trans-2,3-enoyl-CoA reductase	Disease-causing germline mutation(s) in
WASHC4	WASH complex subunit 4	Disease-causing germline mutation(s) in
MAN1B1	mannosidase alpha class 1B member 1	Disease-causing germline mutation(s) in
MED23	mediator complex subunit 23	Disease-causing germline mutation(s) in
GRIN1	glutamate ionotropic receptor NMDA type subunit 1	Disease-causing germline mutation(s) in
ZC3H14	zinc finger CCCH-type containing 14	Disease-causing germline mutation(s) in
NSUN2	NOP2/Sun RNA methyltransferase 2	Disease-causing germline mutation(s) in
CRADD	CARD and death domain containing adaptor protein	Disease-causing germline mutation(s) in
B3GALNT2	beta-1,3-N-acetylgalactosaminyltransferase 2	Disease-causing germline mutation(s) in
LINS1	lines homolog 1	Disease-causing germline mutation(s) in
PGAP1	post-GPI attachment to proteins inositol deacylase 1	Disease-causing germline mutation(s) (loss of function) in
METTL23	methyltransferase 23, arginine	Disease-causing germline mutation(s) in
CLIP1	CAP-Gly domain containing linker protein 1	Disease-causing germline mutation(s) (loss of function) in
FBXO31	F-box protein 31	Disease-causing germline mutation(s) (loss of function) in
NDST1	N-deacetylase and N-sulfotransferase 1	Disease-causing germline mutation(s) in
FMN2	formin 2	Disease-causing germline mutation(s) in
EDC3	enhancer of mRNA decapping 3	Disease-causing germline mutation(s) in
HNMT	histamine N-methyltransferase	Disease-causing germline mutation(s) in
EZR	ezrin	Disease-causing germline mutation(s) (loss of function) in
CEP104	centrosomal protein 104	Disease-causing germline mutation(s) in
LMAN2L	lectin, mannose binding 2 like	Disease-causing germline mutation(s) in
DCPS	decapping enzyme, scavenger	Disease-causing germline mutation(s) in
TNIK	TRAF2 and NCK interacting kinase	Disease-causing germline mutation(s) (loss of function) in
IQSEC1	IQ motif and Sec7 domain ArfGEF 1	Disease-causing germline mutation(s) in
KDM5B	lysine demethylase 5B	Disease-causing germline mutation(s) in
MBOAT7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	Disease-causing germline mutation(s) (loss of function) in
FERRY3	FERRY endosomal RAB5 effector complex subunit 3	Disease-causing germline mutation(s) in
SARS1	seryl-tRNA synthetase 1	Disease-causing germline mutation(s) in
PIGC	phosphatidylinositol glycan anchor biosynthesis class C	Disease-causing germline mutation(s) in
SLC45A1	solute carrier family 45 member 1	Disease-causing germline mutation(s) in
FRRS1L	ferric chelate reductase 1 like	Disease-causing germline mutation(s) in

外部标识与链接

Orphanet OMIM:249500 OMIM:607417 OMIM:608443 MONDO:0019502ICD-10 F70、F71、F72、F73ICD-11 LD90.YClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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）