Bilateral striopallidodentate calcinosis
ORPHA:1980DiseaseAutosomal dominant, Autosomal recessive, Not applicableAdult
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NAA60 | N-alpha-acetyltransferase 60, NatF catalytic subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614246 |
| CMPK2 | cytidine/uridine monophosphate kinase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611787 |
| JAM2 | junctional adhesion molecule 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606870 |
| MYORG | myogenesis regulating glycosidase | Disease-causing germline mutation(s) in | gene with protein product | 618255 |
| PDGFRB | platelet derived growth factor receptor beta | Disease-causing germline mutation(s) in | gene with protein product | 173410 |
| PDGFB | platelet derived growth factor subunit B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 190040 |
| SLC20A2 | solute carrier family 20 member 2 | Disease-causing germline mutation(s) in | gene with protein product | 158378 |
| XPR1 | xenotropic and polytropic retrovirus receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 605237 |
Фенотипы (HPO)33
Частый (30–79%)15
HP:0000298Mask-like facies
HP:0000709Psychosis
HP:0000726Dementia
HP:0000739Anxiety
HP:0000751Personality changes
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001337Tremor
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002135Basal ganglia calcification
HP:0002315Headache
HP:0002321Vertigo
HP:0002344Progressive neurologic deterioration
HP:0007146Bilateral basal ganglia lesions
Периодический (5–29%)16
HP:0000012Urinary urgency
HP:0000802Impotence
HP:0000822Hypertension
HP:0001332Dystonia
HP:0001350Slurred speech
HP:0002015Dysphagia
HP:0002312Clumsiness
HP:0002317Unsteady gait
HP:0002354Memory impairment
HP:0003388Easy fatigability
HP:0100660Dyskinesia
HP:0003394Muscle spasm
HP:0004305Involuntary movements
HP:0007256Abnormal pyramidal sign
HP:0007352Cerebellar calcifications
HP:0031987Diminished ability to concentrate
Исключён (0%)2
HP:0011450Unusual CNS infection
HP:0032180Abnormal circulating metabolite concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | 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)