常染色体隐性遗传先天性小脑共济失调

Autosomal recessive congenital cerebellar ataxia

ORPHA:98095疾病组

基本事实

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
AHI1	Abelson helper integration site 1	ORPHA:220493
ATCAY	ATCAY kinesin light chain interacting caytaxin	ORPHA:94122
ATP8A2	ATPase phospholipid transporting 8A2	ORPHA:1766
CA8	carbonic anhydrase 8 (inactive)	ORPHA:1766
CC2D2A	coiled-coil and C2 domain containing 2A	ORPHA:2318
CEP120	centrosomal protein 120	ORPHA:220493
CEP290	centrosomal protein 290	ORPHA:2318
CEP41	centrosomal protein 41	ORPHA:220493
CSPP1	centrosome and spindle pole associated protein 1	ORPHA:397715
CWF19L1	CWF19 like cell cycle control factor 1	ORPHA:453521
INPP5E	inositol polyphosphate-5-phosphatase E	ORPHA:220493
KIAA0586	KIAA0586	ORPHA:397715
MKS1	MKS transition zone complex subunit 1	ORPHA:220493
PMPCA	peptidase, mitochondrial processing subunit alpha	ORPHA:1170
RNU12	RNA, U12 small nuclear	ORPHA:512260
RPGRIP1L	RPGRIP1 like	ORPHA:1454
TMEM138	transmembrane protein 138	ORPHA:2318
TMEM216	transmembrane protein 216	ORPHA:2318
TMEM231	transmembrane protein 231	ORPHA:2318
TMEM237	transmembrane protein 237	ORPHA:2318
TMEM67	transmembrane protein 67	ORPHA:1454
TUBB2B	tubulin beta 2B class IIb	ORPHA:1766
VLDLR	very low density lipoprotein receptor	ORPHA:1766
WDR73	WD repeat domain 73	ORPHA:83472
WDR81	WD repeat domain 81	ORPHA:1766
ZNF423	zinc finger protein 423	ORPHA:2318

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