Periventricular nodular heterotopia

ORPHA:98892Clinical subtypeAutosomal dominant, Autosomal recessive, X-linked dominantChildhood

Ассоциированные гены (7)

ARFGEF2

ARF guanine nucleotide exchange factor 2

Disease-causing germline mutation(s) in

OMIM: 605371

FLNA

filamin A

Disease-causing germline mutation(s) (loss of function) in

OMIM: 300017

ERMARD

ER membrane associated RNA degradation

Disease-causing germline mutation(s) in

OMIM: 615532

NEDD4L

NEDD4 like E3 ubiquitin protein ligase

Disease-causing germline mutation(s) in

OMIM: 606384

TMTC3

transmembrane O-mannosyltransferase targeting cadherins 3

Disease-causing germline mutation(s) (loss of function) in

OMIM: 617218

ARF1

ARF GTPase 1

Disease-causing germline mutation(s) in

OMIM: 103180

MAP1B

microtubule associated protein 1B

Disease-causing germline mutation(s) (loss of function) in

OMIM: 157129

Фенотипы (16)

Очень частый (80–99%) — 5

HP:0001892Abnormal bleeding

HP:0002020Gastroesophageal reflux

HP:0002021Pyloric stenosis

HP:0002650Scoliosis

HP:0100790Hernia

Частый (30–79%) — 8

HP:0000963Thin skin

HP:0001382Joint hypermobility

HP:0001643Patent ductus arteriosus

HP:0001654Abnormal heart valve morphology

HP:0001659Aortic regurgitation

HP:0007165Periventricular heterotopia

HP:0007359Focal-onset seizure

HP:0012639Abnormal nervous system morphology

Периодический (5–29%) — 3

HP:0002999Patellar dislocation

HP:0003834Shoulder dislocation

HP:0004942Aortic aneurysm

Эпидемиология (1)

Point prevalence

Unknown

Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Periventricular nodular heterotopia

ORPHA:98892Clinical subtypeAutosomal dominant, Autosomal recessive, X-linked dominantChildhood

Ассоциированные гены7

Ген	Полное название	Тип связи	Тип гена	OMIM
ARFGEF2	ARF guanine nucleotide exchange factor 2	Disease-causing germline mutation(s) in	gene with protein product	605371
FLNA	filamin A	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	300017
ERMARD	ER membrane associated RNA degradation	Disease-causing germline mutation(s) in	gene with protein product	615532
NEDD4L	NEDD4 like E3 ubiquitin protein ligase	Disease-causing germline mutation(s) in	gene with protein product	606384
TMTC3	transmembrane O-mannosyltransferase targeting cadherins 3	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	617218
ARF1	ARF GTPase 1	Disease-causing germline mutation(s) in	gene with protein product	103180
MAP1B	microtubule associated protein 1B	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	157129

Фенотипы (HPO)16

Очень частый (80–99%)5

HP:0001892Abnormal bleeding

HP:0002020Gastroesophageal reflux

HP:0002021Pyloric stenosis

HP:0002650Scoliosis

HP:0100790Hernia

Частый (30–79%)8

HP:0000963Thin skin

HP:0001382Joint hypermobility

HP:0001643Patent ductus arteriosus

HP:0001654Abnormal heart valve morphology

HP:0001659Aortic regurgitation

HP:0007165Periventricular heterotopia

HP:0007359Focal-onset seizure

HP:0012639Abnormal nervous system morphology

Периодический (5–29%)3

HP:0002999Patellar dislocation

HP:0003834Shoulder dislocation

HP:0004942Aortic aneurysm

Эпидемиология1

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	Unknown	—	Worldwide	Class only

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Periventricular nodular heterotopia

Ассоциированные гены (7)

Фенотипы (16)

Эпидемиология (1)

Лекарства и терапия

Клинические исследования

Внешние ресурсы

Ассоциированные гены7

Фенотипы (HPO)16

Эпидемиология1

Лекарства и терапия

Клинические исследования