Usher syndrome type 1

ORPHA:231169Clinical subtypeAutosomal recessiveInfancy, Neonatal

Ассоциированные гены10

Ген	Полное название	Тип связи	Тип гена	OMIM
USH1K	Usher syndrome 1K (autosomal recessive)	Disease-causing germline mutation(s) in	Disorder-associated locus	—
CDH23	cadherin related 23	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	605516
USH1C	USH1 protein network component harmonin	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	605242
USH1G	USH1 protein network component sans	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	607696
MYO7A	myosin VIIA	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	276903
PCDH15	protocadherin related 15	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	605514
USH1E	Usher syndrome 1E (autosomal recessive, severe)	Disease-causing germline mutation(s) in	Disorder-associated locus	—
USH1H	Usher syndrome 1H (autosomal recessive)	Disease-causing germline mutation(s) in	Disorder-associated locus	—
CIB2	calcium and integrin binding family member 2	Disease-causing germline mutation(s) in	gene with protein product	605564
ESPN	espin	Disease-causing germline mutation(s) in	gene with protein product	606351

Очень частый (80–99%)7

HP:0000375Abnormal cochlea morphology

HP:0000407Sensorineural hearing impairment

HP:0000510Rod-cone dystrophy

HP:0000512Abnormal electroretinogram

HP:0000572Visual loss

HP:0000575Scotoma

HP:0000662Nyctalopia

Частый (30–79%)7

HP:0000518Cataract

HP:0000750Delayed speech and language development

HP:0001270Motor delay

HP:0001751Abnormal vestibular function

HP:0002141Gait imbalance

HP:0007663Reduced visual acuity

HP:0007994Peripheral visual field loss

Периодический (5–29%)2

HP:0000716Depression

HP:0000739Anxiety

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-9 / 100 000	1.5	Denmark	Value and class
Point prevalence	1-9 / 100 000	—	Europe	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)