Senior-Loken syndrome

ORPHA:3156DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy

Ассоциированные гены10

Ген	Полное название	Тип связи	Тип гена	OMIM
CEP290	centrosomal protein 290	Disease-causing germline mutation(s) in	gene with protein product	610142
INVS	inversin	Disease-causing germline mutation(s) in	gene with protein product	243305
IQCB1	IQ motif containing B1	Disease-causing germline mutation(s) in	gene with protein product	609237
NPHP1	nephrocystin 1	Disease-causing germline mutation(s) in	gene with protein product	607100
NPHP3	nephrocystin 3	Disease-causing germline mutation(s) in	gene with protein product	608002
NPHP4	nephrocystin 4	Disease-causing germline mutation(s) in	gene with protein product	607215
SDCCAG8	SHH signaling and ciliogenesis regulator SDCCAG8	Disease-causing germline mutation(s) in	gene with protein product	613524
WDR19	WD repeat domain 19	Disease-causing germline mutation(s) in	gene with protein product	608151
CEP164	centrosomal protein 164	Disease-causing germline mutation(s) in	gene with protein product	614848
TRAF3IP1	TRAF3 interacting protein 1	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	607380

Очень частый (80–99%)8

HP:0000505Visual impairment

HP:0000556Retinal dystrophy

HP:0000822Hypertension

HP:0001263Global developmental delay

HP:0003774Stage 5 chronic kidney disease

HP:0004322Short stature

HP:0007703Abnormality of retinal pigmentation

HP:0012622Chronic kidney disease

Частый (30–79%)3

HP:0000090Nephronophthisis

HP:0000529Progressive visual loss

HP:0008209Premature ovarian insufficiency

Периодический (5–29%)5

HP:0000518Cataract

HP:0001251Ataxia

HP:0002612Congenital hepatic fibrosis

HP:0004348Abnormality of bone mineral density

HP:0010579Cone-shaped epiphysis

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-9 / 1 000 000	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)