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Hypoplastic left heart syndrome

ORPHA:2248Morphological anomalyUnknownAntenatal, Neonatal

Ассоциированные гены (2)

GJA1
gap junction protein alpha 1
Major susceptibility factor in
OMIM: 121014
NKX2-5
NK2 homeobox 5
Major susceptibility factor in
OMIM: 600584

Фенотипы (8)

Очень частый (80–99%)1
HP:0004383Hypoplastic left heart
Частый (30–79%)1
HP:0012304Hypoplastic aortic arch
Периодический (5–29%)6
HP:0001643Patent ductus arteriosus
HP:0001718Mitral stenosis
HP:0009800Maternal diabetes
HP:0001631Atrial septal defect
HP:0002916Abnormality of chromosome segregation
HP:0011560Mitral atresia

Эпидемиология (24)

Prevalence at birth
1-5 / 10 000
Worldwide
Prevalence at birth
1-5 / 10 000
United States
Prevalence at birth
1-5 / 10 000
Europe
Prevalence at birth
1-5 / 10 000
Austria
Prevalence at birth
1-5 / 10 000
Belgium
Prevalence at birth
1-5 / 10 000
Croatia
Prevalence at birth
1-5 / 10 000
Denmark
Prevalence at birth
1-5 / 10 000
France
Prevalence at birth
1-5 / 10 000
Germany
Prevalence at birth
1-5 / 10 000
Hungary
Prevalence at birth
1-5 / 10 000
Ireland
Prevalence at birth
1-9 / 100 000
Italy
Prevalence at birth
1-5 / 10 000
Malta
Prevalence at birth
1-9 / 100 000
Netherlands
Prevalence at birth
1-5 / 10 000
Norway
Prevalence at birth
1-9 / 100 000
Poland
Prevalence at birth
1-9 / 100 000
Portugal
Prevalence at birth
1-5 / 10 000
Switzerland
Prevalence at birth
1-5 / 10 000
United Kingdom
Prevalence at birth
1-5 / 10 000
Ukraine
Prevalence at birth
1-9 / 100 000
Spain
Point prevalence
Unknown
Worldwide
Prevalence at birth
1-9 / 100 000
China
Prevalence at birth
1-5 / 10 000
Sweden

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы