皮肤色素沉着异常

Pigmentation anomaly of the skin

ORPHA:79374疾病组

相关基因 28来自下位疾病

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
ABCB6	ATP binding cassette subfamily B member 6 (LAN blood group)	ORPHA:241
ADAM10	ADAM metallopeptidase domain 10	ORPHA:178307
ADAR	adenosine deaminase RNA specific	ORPHA:41
DCT	dopachrome tautomerase	ORPHA:597733
GNA11	G protein subunit alpha 11	ORPHA:79483
GNAQ	G protein subunit alpha q	ORPHA:79483
GRHL2	grainyhead like transcription factor 2	ORPHA:423454
KIT	KIT proto-oncogene, receptor tyrosine kinase	ORPHA:2884
KITLG	KIT ligand	ORPHA:79146
KRT14	keratin 14	ORPHA:86920
KRT5	keratin 5	ORPHA:79145
LRMDA	leucine rich melanocyte differentiation associated	ORPHA:352745
LYST	lysosomal trafficking regulator	ORPHA:167
MITF	melanocyte inducing transcription factor	ORPHA:42665
OCA2	OCA2 melanosomal transmembrane protein	ORPHA:79432
POFUT1	protein O-fucosyltransferase 1	ORPHA:79145
POGLUT1	protein O-glucosyltransferase 1	ORPHA:79145
PSENEN	presenilin enhancer, gamma-secretase subunit	ORPHA:79145
PUS3	pseudouridine synthase 3	ORPHA:488627
RHOA	ras homolog family member A	ORPHA:589608
SASH1	SAM and SH3 domain containing 1	ORPHA:231040
SLC24A5	solute carrier family 24 member 5	ORPHA:370097
SLC29A3	solute carrier family 29 member 3	ORPHA:168569
SLC45A2	solute carrier family 45 member 2	ORPHA:79435
SMARCB1	SWI/SNF related BAF chromatin remodeling complex subunit B1	ORPHA:93921
SNAI2	snail family transcriptional repressor 2	ORPHA:2884
SPRED1	sprouty related EVH1 domain containing 1	ORPHA:137605
TYRP1	tyrosinase related protein 1	ORPHA:79433

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