RIDDLE syndrome
ORPHA:420741Malformation syndromeAutosomal recessiveAdolescent, Infancy
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)6
HP:0002720Decreased circulating IgA level
HP:0002721Immunodeficiency
HP:0004315Decreased circulating IgG level
HP:0004322Short stature
HP:0006254Elevated alpha-fetoprotein
HP:0010997Chromosomal breakage induced by ionizing radiation
Частый (30–79%)8
HP:0001328Specific learning disability
HP:0001954Recurrent fever
HP:0001999Abnormal facial shape
HP:0002090Pneumonia
HP:0006532Recurrent pneumonia
HP:0011108Recurrent sinusitis
HP:0011109Chronic sinusitis
HP:0012387Bronchitis
Периодический (5–29%)29
HP:0000252Microcephaly
HP:0000388Otitis media
HP:0000524Conjunctival telangiectasia
HP:0000712Emotional lability
HP:0001009Telangiectasia
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001369Arthritis
HP:0001824Weight loss
HP:0002014Diarrhea
HP:0002027Abdominal pain
HP:0002091Restrictive ventilatory defect
HP:0002206Pulmonary fibrosis
HP:0002312Clumsiness
HP:0002315Headache
HP:0002500Abnormal cerebral white matter morphology
HP:0002850Decreased circulating total IgM
HP:0002878Respiratory failure
HP:0004429Recurrent viral infections
HP:0006530Abnormal pulmonary interstitial morphology
HP:0007057Poor hand-eye coordination
HP:0007108Demyelinating peripheral neuropathy
HP:0008940Generalized lymphadenopathy
HP:0010677Enuresis nocturna
HP:0010783Erythema
HP:0012768Neonatal asphyxia
HP:0030746Intraventricular hemorrhage
HP:0040189Scaling skin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)