Desmosterolosis
ORPHA:35107DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)57
Очень частый (80–99%)18
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001274Agenesis of corpus callosum
HP:0001276Hypertonia
HP:0001331Absent septum pellucidum
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0002063Rigidity
HP:0003510Severe short stature
HP:0003552Muscle stiffness
HP:0011968Feeding difficulties
Частый (30–79%)13
HP:0000358Posteriorly rotated ears
HP:0001250Seizure
HP:0002119Ventriculomegaly
HP:0002133Status epilepticus
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0009748Large earlobe
HP:0000160Narrow mouth
HP:0000363Abnormality of earlobe
HP:0000366Abnormality of the nose
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000639Nystagmus
Периодический (5–29%)26
HP:0001302Pachygyria
HP:0000062Ambiguous genitalia
HP:0000104Renal agenesis
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000494Downslanted palpebral fissures
HP:0001302Pachygyria
HP:0001339Lissencephaly
HP:0001643Patent ductus arteriosus
HP:0001744Splenomegaly
HP:0001840Metatarsus adductus
HP:0001883Talipes
HP:0002007Frontal bossing
HP:0002126Polymicrogyria
HP:0002269Abnormality of neuronal migration
HP:0002536Abnormal cortical gyration
HP:0002566Intestinal malrotation
HP:0002983Micromelia
HP:0004334Dermal atrophy
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008678Renal hypoplasia/aplasia
HP:0010772Anomalous pulmonary venous return
HP:0011001Increased bone mineral density
HP:0011002Osteopetrosis
HP:0011220Prominent forehead
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)