Trichohepatoenteric syndrome
ORPHA:84064DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)52
Очень частый (80–99%)4
HP:0001999Abnormal facial shape
HP:0002041Intractable diarrhea
HP:0002224Woolly hair
HP:0002721Immunodeficiency
Частый (30–79%)21
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000431Wide nasal bridge
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001392Abnormality of the liver
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0002240Hepatomegaly
HP:0002299Brittle hair
HP:0003139Panhypogammaglobulinemia
HP:0004322Short stature
HP:0005599Hypopigmentation of hair
HP:0009886Trichorrhexis nodosa
HP:0011121Abnormal skin morphology
HP:0011220Prominent forehead
HP:0011473Villous atrophy
HP:0025156Dependency on intravenous nutrition
HP:0030056Uncombable hair
Периодический (5–29%)10
HP:0000957Cafe-au-lait spot
HP:0000958Dry skin
HP:0001627Abnormal heart morphology
HP:0001888Lymphopenia
HP:0001894Thrombocytosis
HP:0002583Colitis
HP:0002719Recurrent infections
HP:0005263Gastritis
HP:0011031Abnormality of iron homeostasis
HP:0011877Increased mean platelet volume
Очень редкий (1–4%)17
HP:0000023Inguinal hernia
HP:0000089Renal hypoplasia
HP:0000113Polycystic kidney dysplasia
HP:0000501Glaucoma
HP:0000778Hypoplasia of the thymus
HP:0000821Hypothyroidism
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001659Aortic regurgitation
HP:0001744Splenomegaly
HP:0002884Hepatoblastoma
HP:0004969Peripheral pulmonary artery stenosis
HP:0007513Generalized hypopigmentation
HP:0025085Bloody diarrhea
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 116 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | France | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)