Combined immunodeficiency-multiple intestinal atresia
ORPHA:436252DiseaseAutosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)30
Очень частый (80–99%)4
HP:0002589Gastrointestinal atresia
HP:0004430Severe combined immunodeficiency
HP:0010766Ectopic calcification
HP:0011100Intestinal atresia
Частый (30–79%)8
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
HP:0002223Absent eyebrow
HP:0002721Immunodeficiency
HP:0003270Abdominal distention
HP:0005229Jejunoileal ulceration
HP:0008070Sparse hair
HP:0025085Bloody diarrhea
Периодический (5–29%)8
HP:0000778Hypoplasia of the thymus
HP:0001072Thickened skin
HP:0002293Alopecia of scalp
HP:0002566Intestinal malrotation
HP:0002722Recurrent abscess formation
HP:0005224Rectal abscess
HP:0100592Peritoneal abscess
HP:0100889Abnormality of the ductus choledochus
Очень редкий (1–4%)10
HP:0000872Hashimoto thyroiditis
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001890Autoimmune hemolytic anemia
HP:0002960Autoimmunity
HP:0003765Psoriasiform dermatitis
HP:0008404Nail dystrophy
HP:0010959Congenital pulmonary airway malformation
HP:0012115Hepatitis
HP:0100651Type I diabetes mellitus
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)