Spondyloenchondrodysplasia
ORPHA:1855Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)3
HP:0000926Platyspondyly
HP:0003493Antinuclear antibody positivity
HP:0100255Metaphyseal dysplasia
Частый (30–79%)6
HP:0001257Spasticity
HP:0002960Autoimmunity
HP:0004322Short stature
HP:0012622Chronic kidney disease
HP:0020151Anti-dsDNA antibody positivity
HP:0410263Brain imaging abnormality
Периодический (5–29%)33
HP:0000093Proteinuria
HP:0000684Delayed eruption of teeth
HP:0000689Dental malocclusion
HP:0000707Abnormality of the nervous system
HP:0000790Hematuria
HP:0000822Hypertension
HP:0000946Hypoplastic ilia
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001369Arthritis
HP:0001890Autoimmune hemolytic anemia
HP:0001973Autoimmune thrombocytopenia
HP:0002072Chorea
HP:0002119Ventriculomegaly
HP:0002315Headache
HP:0002514Cerebral calcification
HP:0002518Abnormal periventricular white matter morphology
HP:0002633Vasculitis
HP:0002719Recurrent infections
HP:0002725Systemic lupus erythematosus
HP:0002979Bowing of the legs
HP:0003326Myalgia
HP:0003521Disproportionate short-trunk short stature
HP:0005681Juvenile rheumatoid arthritis
HP:0009826Limb undergrowth
HP:0009882Short distal phalanx of finger
HP:0012115Hepatitis
HP:0012514Lower limb pain
HP:0030038Enchondroma
HP:0030047Abnormality of lateral ventricle
HP:0030880Raynaud phenomenon
HP:0032252Granuloma
Очень редкий (1–4%)10
HP:0000768Pectus carinatum
HP:0000821Hypothyroidism
HP:0000824Decreased response to growth hormone stimulation test
HP:0000988Skin rash
HP:0001045Vitiligo
HP:0001250Seizure
HP:0001876Pancytopenia
HP:0002090Pneumonia
HP:0002808Kyphosis
HP:0011800Midface retrusion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 36 | 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)