Hirschsprung disease

ORPHA:388DiseaseAutosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicableChildhood, Infancy, Neonatal

Ассоциированные гены14

Ген	Полное название	Тип связи	Тип гена	OMIM
ATP7A	ATPase copper transporting alpha	Disease-causing germline mutation(s) in	gene with protein product	300011
ABCD1	ATP binding cassette subfamily D member 1	Disease-causing germline mutation(s) in	gene with protein product	300371
ERBB2	erb-b2 receptor tyrosine kinase 2	Disease-causing germline mutation(s) in	gene with protein product	164870
ERBB3	erb-b2 receptor tyrosine kinase 3	Disease-causing germline mutation(s) in	gene with protein product	190151
SMO	smoothened, frizzled class receptor	Disease-causing germline mutation(s) in	gene with protein product	601500
RET	ret proto-oncogene	Disease-causing germline mutation(s) in	gene with protein product	164761
ECE1	endothelin converting enzyme 1	Major susceptibility factor in	gene with protein product	600423
EDN3	endothelin 3	Major susceptibility factor in	gene with protein product	131242
EDNRB	endothelin receptor type B	Major susceptibility factor in	gene with protein product	131244
GDNF	glial cell derived neurotrophic factor	Major susceptibility factor in	gene with protein product	600837
NRTN	neurturin	Major susceptibility factor in	gene with protein product	602018
SEMA3C	semaphorin 3C	Major susceptibility factor in	gene with protein product	602645
SEMA3D	semaphorin 3D	Major susceptibility factor in	gene with protein product	609907
SREBF1	sterol regulatory element binding transcription factor 1	Disease-causing germline mutation(s) in	gene with protein product	184756

Очень частый (80–99%)6

HP:0002251Aganglionic megacolon

HP:0005214Intestinal obstruction

HP:0012719Functional abnormality of the gastrointestinal tract

HP:0002017Nausea and vomiting

HP:0002019Constipation

HP:0002027Abdominal pain

Частый (30–79%)5

HP:0001824Weight loss

HP:0003270Abdominal distention

HP:0011968Feeding difficulties

HP:0034754Bilious emesis

HP:6000224Delayed passage of meconium

Периодический (5–29%)8

HP:0002014Diarrhea

HP:0004322Short stature

HP:0004387Enterocolitis

HP:0031369Colon perforation

HP:0100806Sepsis

HP:0001531Failure to thrive in infancy

HP:0001510Growth delay

HP:0001561Polyhydramnios

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Prevalence at birth	1-5 / 10 000	13.2	Europe	Value and class
Prevalence at birth	1-5 / 10 000	21	United States	Value and class
Point prevalence	1-5 / 10 000	13.2	Europe	Value and class
Point prevalence	1-5 / 10 000	15	Worldwide	Value and class
Prevalence at birth	1-5 / 10 000	22	Taiwan, Province of China	Value and class
Prevalence at birth	1-5 / 10 000	15	Worldwide	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)