Aicardi-Goutières syndrome
ORPHA:51DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LSM11 | LSM11, U7 small nuclear RNA associated | Disease-causing germline mutation(s) in | gene with protein product | 617910 |
| RNU7-1 | RNA, U7 small nuclear 1 | Disease-causing germline mutation(s) in | Non-coding RNA | 617876 |
| SAMHD1 | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Disease-causing germline mutation(s) in | gene with protein product | 606754 |
| RNASEH2A | ribonuclease H2 subunit A | Disease-causing germline mutation(s) in | gene with protein product | 606034 |
| RNASEH2B | ribonuclease H2 subunit B | Disease-causing germline mutation(s) in | gene with protein product | 610326 |
| RNASEH2C | ribonuclease H2 subunit C | Disease-causing germline mutation(s) in | gene with protein product | 610330 |
| ADAR | adenosine deaminase RNA specific | Disease-causing germline mutation(s) in | gene with protein product | 146920 |
| TREX1 | three prime repair exonuclease 1 | Disease-causing germline mutation(s) in | gene with protein product | 606609 |
| IFIH1 | interferon induced with helicase C domain 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 606951 |
Фенотипы (HPO)72
Очень частый (80–99%)7
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0002132Porencephaly
HP:0002139Arrhinencephaly
HP:0002187Intellectual disability, profound
HP:0007052Multifocal cerebral white matter abnormalities
Частый (30–79%)28
HP:0000444Convex nasal ridge
HP:0001288Gait disturbance
HP:0000252Microcephaly
HP:0000625Eyelid coloboma
HP:0000737Irritability
HP:0000958Dry skin
HP:0001250Seizure
HP:0001332Dystonia
HP:0001433Hepatosplenomegaly
HP:0001955Unexplained fevers
HP:0002071Abnormality of extrapyramidal motor function
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002371Loss of speech
HP:0002376Developmental regression
HP:0002415Leukodystrophy
HP:0002514Cerebral calcification
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002960Autoimmunity
HP:0004322Short stature
HP:0004374Hemiplegia/hemiparesis
HP:0007076Extrapyramidal muscular rigidity
HP:0008936Axial hypotonia
HP:0009704Chronic CSF lymphocytosis
HP:0009709Increased CSF interferon alpha
HP:0009710Chilblains
HP:0012444Brain atrophy
HP:0030356Increased serum interferon-gamma level
Периодический (5–29%)28
HP:0000054Micropenis
HP:0000369Low-set ears
HP:0000496Abnormality of eye movement
HP:0000501Glaucoma
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000965Cutis marmorata
HP:0001063Acrocyanosis
HP:0001087Developmental glaucoma
HP:0001337Tremor
HP:0001357Plagiocephaly
HP:0001369Arthritis
HP:0001609Hoarse voice
HP:0001640Cardiomegaly
HP:0002313Spastic paraparesis
HP:0002315Headache
HP:0002510Spastic tetraplegia
HP:0002650Scoliosis
HP:0002828Multiple joint contractures
HP:0003552Muscle stiffness
HP:0004809Neonatal alloimmune thrombocytopenia
HP:0006579Prolonged neonatal jaundice
HP:0007108Demyelinating peripheral neuropathy
HP:0007256Abnormal pyramidal sign
HP:0012490Panniculitis
HP:0030880Raynaud phenomenon
Очень редкий (1–4%)9
HP:0001639Hypertrophic cardiomyopathy
HP:0004942Aortic aneurysm
HP:0004963Calcification of the aorta
HP:0005550Chronic lymphatic leukemia
HP:0011834Moyamoya phenomenon
HP:0030038Enchondroma
HP:0040140Degeneration of the striatum
HP:0100578Lipoatrophy
HP:0100614Myositis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)