Idiopathic achalasia

ORPHA:930DiseaseAutosomal recessive, Not applicableAll ages

Ассоциированные гены4

Ген	Полное название	Тип связи	Тип гена	OMIM
CRLF1	cytokine receptor like factor 1	Disease-causing germline mutation(s) in	gene with protein product	604237
HLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	Major susceptibility factor in	gene with protein product	146880
HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	Major susceptibility factor in	gene with protein product	604305
NOS1	nitric oxide synthase 1	Disease-causing germline mutation(s) in	gene with protein product	163731

Очень частый (80–99%)1

HP:0002015Dysphagia

Частый (30–79%)5

HP:0001824Weight loss

HP:0002020Gastroesophageal reflux

HP:0012387Bronchitis

HP:0012735Cough

HP:0100749Chest pain

Периодический (5–29%)4

HP:0002100Recurrent aspiration pneumonia

HP:0004395Malnutrition

HP:0030828Wheezing

HP:0031085Decreased prealbumin level

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Prevalence at birth	1-9 / 1 000 000	—	Europe	Class only
Point prevalence	1-9 / 100 000	8	Worldwide	Value and class
Point prevalence	1-5 / 10 000	10.82	Canada	Value and class
Point prevalence	1-9 / 100 000	6.29	Korea, Republic of	Value and class
Point prevalence	1-5 / 10 000	13.5	Ireland	Value and class
Point prevalence	1-9 / 100 000	8.7	Iceland	Value and class
Point prevalence	1-9 / 100 000	1.8	Singapore	Value and class
Annual incidence	1-9 / 100 000	1.59	Italy	Value and class
Annual incidence	1-9 / 1 000 000	0.73	Iceland	Value and class
Annual incidence	1-9 / 1 000 000	0.3	Singapore	Value and class
Annual incidence	1-9 / 1 000 000	0.39	Korea, Republic of	Value and class
Annual incidence	1-9 / 100 000	1.63	Canada	Value and class
Annual incidence	1-9 / 1 000 000	0.77	Worldwide	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)