Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
ORPHA:309854DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)39
Частый (30–79%)24
HP:0000338Hypomimic face
HP:0001260Dysarthria
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001392Abnormality of the liver
HP:0001409Portal hypertension
HP:0001413Micronodular cirrhosis
HP:0001744Splenomegaly
HP:0001901Polycythemia
HP:0002040Esophageal varix
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002075Dysdiadochokinesis
HP:0002172Postural instability
HP:0002240Hepatomegaly
HP:0002345Action tremor
HP:0002453Abnormal globus pallidus morphology
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0009830Peripheral neuropathy
HP:0010927Abnormal blood inorganic cation concentration
HP:0012447Abnormal myelination
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0040135Abnormal transferrin saturation
Периодический (5–29%)15
HP:0000252Microcephaly
HP:0000952Jaundice
HP:0001639Hypertrophic cardiomyopathy
HP:0001928Abnormality of coagulation
HP:0002078Truncal ataxia
HP:0002154Hyperglycinemia
HP:0002313Spastic paraparesis
HP:0002446Astrocytosis
HP:0004337Abnormality of amino acid metabolism
HP:0007010Poor fine motor coordination
HP:0008151Prolonged prothrombin time
HP:0012343Decreased serum ferritin
HP:0025196Increased total iron binding capacity
HP:0025321Copper accumulation in liver
HP:0100513Low levels of vitamin E
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)