Syndromic multisystem autoimmune disease due to Itch deficiency
ORPHA:228426DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)6
HP:0001263Global developmental delay
HP:0001433Hepatosplenomegaly
HP:0001531Failure to thrive in infancy
HP:0001999Abnormal facial shape
HP:0004482Relative macrocephaly
HP:0006528Chronic lung disease
Частый (30–79%)10
HP:0000520Proptosis
HP:0000821Hypothyroidism
HP:0001971Hypersplenism
HP:0002719Recurrent infections
HP:0002960Autoimmunity
HP:0008947Floppy infant
HP:0011471Gastrostomy tube feeding in infancy
HP:0012115Hepatitis
HP:0025379Anti-thyroid peroxidase antibody positivity
HP:0100646Thyroiditis
Периодический (5–29%)22
HP:0000268Dolichocephaly
HP:0000269Prominent occiput
HP:0000331Short chin
HP:0000358Posteriorly rotated ears
HP:0000453Choanal atresia
HP:0000508Ptosis
HP:0001394Cirrhosis
HP:0001409Portal hypertension
HP:0001876Pancytopenia
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0002007Frontal bossing
HP:0002242Abnormal intestine morphology
HP:0003262Smooth muscle antibody positivity
HP:0003453Antineutrophil antibody positivity
HP:0006554Acute hepatic failure
HP:0011800Midface retrusion
HP:0012385Camptodactyly
HP:0025329Anti-glutamic acid decarboxylase antibody positivity
HP:0030084Clinodactyly
HP:0030151Cholangitis
HP:0031104Insulin receptor antibody positivity
HP:0100651Type I diabetes mellitus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)