常染色体显性遗传非综合征性智力障碍

Autosomal dominant non-syndromic intellectual disability

ORPHA:178469疾病亚型

基本事实

遗传方式: 常染色体显性
发病年龄: 儿童期、婴儿期

相关基因 42

基因	名称	关联类型
SCN2A	sodium voltage-gated channel alpha subunit 2	Disease-causing germline mutation(s) in
KCNQ2	potassium voltage-gated channel subfamily Q member 2	Disease-causing germline mutation(s) in
TCF4	transcription factor 4	Disease-causing germline mutation(s) in
CTNND2	catenin delta 2	Disease-causing germline mutation(s) in
CDH15	cadherin 15	Disease-causing germline mutation(s) in
KIRREL3	kirre like nephrin family adhesion molecule 3	Disease-causing germline mutation(s) in
DOCK8	dedicator of cytokinesis 8	Disease-causing germline mutation(s) in
MBD5	methyl-CpG binding domain protein 5	Disease-causing germline mutation(s) in
DLL1	delta like canonical Notch ligand 1	Disease-causing germline mutation(s) in
GRIN1	glutamate ionotropic receptor NMDA type subunit 1	Disease-causing germline mutation(s) in
DYNC1H1	dynein cytoplasmic 1 heavy chain 1	Disease-causing germline mutation(s) in
CACNG2	calcium voltage-gated channel auxiliary subunit gamma 2	Disease-causing germline mutation(s) in
EPB41L1	erythrocyte membrane protein band 4.1 like 1	Disease-causing germline mutation(s) in
SCN8A	sodium voltage-gated channel alpha subunit 8	Disease-causing germline mutation(s) in
CLTC	clathrin heavy chain	Disease-causing germline mutation(s) in
ERBB4	erb-b2 receptor tyrosine kinase 4	Disease-causing germline mutation(s) in
PRICKLE2	prickle planar cell polarity protein 2	Disease-causing germline mutation(s) in
SLC6A1	solute carrier family 6 member 1	Disease-causing germline mutation(s) in
CUX1	cut like homeobox 1	Disease-causing germline mutation(s) in
HIVEP2	HIVEP zinc finger 2	Disease-causing germline mutation(s) (loss of function) in
KCNQ5	potassium voltage-gated channel subfamily Q member 5	Disease-causing germline mutation(s) in
KDM5B	lysine demethylase 5B	Candidate gene tested in
RAB11A	RAB11A, member RAS oncogene family	Disease-causing germline mutation(s) in
CIC	capicua transcriptional repressor	Disease-causing germline mutation(s) (loss of function) in
CSNK2B	casein kinase 2 beta	Disease-causing germline mutation(s) (loss of function) in
SEMA6B	semaphorin 6B	Disease-causing germline mutation(s) in
ASH1L	ASH1 like histone lysine methyltransferase	Disease-causing germline mutation(s) in
SET	SET nuclear proto-oncogene	Disease-causing germline mutation(s) in
CAMK2A	calcium/calmodulin dependent protein kinase II alpha	Disease-causing germline mutation(s) in
CAMK2B	calcium/calmodulin dependent protein kinase II beta	Disease-causing germline mutation(s) in
GRIA1	glutamate ionotropic receptor AMPA type subunit 1	Disease-causing germline mutation(s) in
BRSK2	BR serine/threonine kinase 2	Disease-causing germline mutation(s) (loss of function) in
GABBR1	gamma-aminobutyric acid type B receptor subunit 1	Disease-causing germline mutation(s) in
ITSN1	intersectin 1	Disease-causing germline mutation(s) in
TAOK1	TAO kinase 1	Disease-causing germline mutation(s) (loss of function) in
TRPM3	transient receptor potential cation channel subfamily M member 3	Disease-causing germline mutation(s) in
NBEA	neurobeachin	Disease-causing germline mutation(s) in
SETD1B	SET domain containing 1B, histone lysine methyltransferase	Disease-causing germline mutation(s) in
YWHAZ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	Disease-causing germline mutation(s) in
CACNA1I	calcium voltage-gated channel subunit alpha1 I	Disease-causing germline mutation(s) in

外部标识与链接

Orphanet OMIM:156200 OMIM:612082 OMIM:612580 MONDO:0015802 GARD:12107ICD-10 F70、F71、F72、F73ICD-11 LD90.YClinicalTrials.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）