Hereditary cryohydrocytosis with reduced stomatin
ORPHA:168577DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Частый (30–79%)11
HP:0000518Cataract
HP:0000952Jaundice
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001433Hepatosplenomegaly
HP:0003575Increased intracellular sodium
HP:0004446Stomatocytosis
HP:0005525Spontaneous hemolytic crises
HP:0008897Postnatal growth retardation
HP:0011972Hypoglycorrhachia
Периодический (5–29%)21
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000400Macrotia
HP:0000470Short neck
HP:0000475Broad neck
HP:0000639Nystagmus
HP:0001156Brachydactyly
HP:0001251Ataxia
HP:0001258Spastic paraplegia
HP:0001276Hypertonia
HP:0001334Communicating hydrocephalus
HP:0002719Recurrent infections
HP:0002908Conjugated hyperbilirubinemia
HP:0004322Short stature
HP:0007229Intracerebral periventricular calcifications
HP:0010306Short thorax
HP:0010920Zonular cataract
HP:0012430Cerebral white matter hypoplasia
HP:0012448Delayed myelination
HP:0012695Decreased thalamic volume
HP:0100022Abnormality of movement
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)