非综合征型脑桥小脑发育不全

Pontocerebellar hypoplasia

ORPHA:98523疾病

定义

非综合征性脑桥小脑发育不良(PCH)是一种罕见的异质性疾病，以小脑和桥脑发育不良、萎缩和/或早期神经变性为特征。已报道了8个亚型，命名为1-8型(见该类词条)，通常以常染色体隐性遗传方式遗传。

脑桥小脑发育不全

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
AGTPBP1	ATP/GTP binding carboxypeptidase 1	ORPHA:2254
AMPD2	adenosine monophosphate deaminase 2	ORPHA:369920
CHMP1A	charged multivesicular body protein 1A	ORPHA:324569
CLP1	cleavage factor polyribonucleotide kinase subunit 1	ORPHA:411493
COASY	Coenzyme A synthase	ORPHA:611256
EXOSC3	exosome component 3	ORPHA:2254
EXOSC8	exosome component 8	ORPHA:2254
EXOSC9	exosome component 9	ORPHA:2254
PCLO	piccolo presynaptic cytomatrix protein	ORPHA:97249
RARS2	arginyl-tRNA synthetase 2, mitochondrial	ORPHA:166073
SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	ORPHA:2524
SLC25A46	solute carrier family 25 member 46	ORPHA:2254
TOE1	target of EGR1, exonuclease	ORPHA:284339
TSEN15	tRNA splicing endonuclease subunit 15	ORPHA:2524
TSEN2	tRNA splicing endonuclease subunit 2	ORPHA:2524
TSEN34	tRNA splicing endonuclease subunit 34	ORPHA:2524
TSEN54	tRNA splicing endonuclease subunit 54	ORPHA:166063
VRK1	VRK serine/threonine kinase 1	ORPHA:2254

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