Information on AGS9
Basic details
Name: Aicardi-Goutieres syndrome 9 | Acronym: AGS9
Alt. names: RNU7-1 deficiency
Gene: RNU7-1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure (Uggenti et al., 2020).[OMIM]. More than 15 patients reported to date.
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Global developmental delay |
16 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Dystonia |
7 (43.8%) | 0 (0.0%) | 9 (56.3%) |
| 3 | Irritability |
7 (43.8%) | 0 (0.0%) | 9 (56.3%) |
| 4 | Cerebral calcification |
5 (31.3%) | 0 (0.0%) | 11 (68.8%) |
| 5 | Hypertension |
5 (31.3%) | 0 (0.0%) | 11 (68.8%) |
| 6 | Hypothyroidism |
5 (31.3%) | 0 (0.0%) | 11 (68.8%) |
| 7 | Anemia |
4 (25.0%) | 0 (0.0%) | 12 (75.0%) |
| 8 | Elevated hepatic transaminases |
4 (25.0%) | 0 (0.0%) | 12 (75.0%) |
| 9 | Feeding difficulties |
4 (25.0%) | 0 (0.0%) | 12 (75.0%) |
| 10 | Spasticity |
4 (25.0%) | 0 (0.0%) | 12 (75.0%) |
| 11 | Cerebral atrophy |
3 (18.8%) | 0 (0.0%) | 13 (81.3%) |
| 12 | Microcephaly |
3 (18.8%) | 0 (0.0%) | 13 (81.3%) |
| 13 | pericardial effusion |
3 (18.8%) | 0 (0.0%) | 13 (81.3%) |
| 14 | Seizures |
3 (18.8%) | 0 (0.0%) | 13 (81.3%) |
| 15 | Stage 5 chronic kidney disease |
3 (18.8%) | 0 (0.0%) | 13 (81.3%) |
| 16 | Basal ganglia calcification |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 17 | Chilblains |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 18 | Delayed CNS myelination |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 19 | Dry skin |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 20 | Hepatic steatosis |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 21 | Hypertonia |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 22 | Hypoalbuminemia |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 23 | Osteoporosis |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 24 | proteinuria |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 25 | Recurrent urinary tract infections |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 26 | Sensory neuropathy |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 27 | Spastic diplegia |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 28 | Spastic tetraparesis |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 29 | Spastic tetraplegia |
2 (12.5%) | 0 (0.0%) | 14 (87.5%) |
| 30 | Absent speech |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 31 | Acute pancreatitis |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 32 | Ascites |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 33 | Muscular hypotonia of the trunk |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 34 | Chorioretinal atrophy |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 35 | Delayed speech and language development |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 36 | Diffuse leukoencephalopathy |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 37 | edema |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 38 | Failure to thrive |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 39 | Glomerular sclerosis |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 40 | Hemolytic anemia |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 41 | Hepatic fibrosis |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 42 | Hepatomegaly |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 43 | Hepatosplenomegaly |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 44 | Hyperechogenic kidneys |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 45 | Increased blood pressure |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 46 | Intrauterine growth retardation |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 47 | Dilation of lateral ventricles |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 48 | Left ventricular hypertrophy |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 49 | Lower limb hypertonia |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 50 | Micropenis |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 51 | Nystagmus |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 52 | Optic atrophy |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 53 | pericarditis |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 54 | Peripheral neuropathy |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 55 | Poikiloderma |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 56 | Portal hypertension |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 57 | Renal insufficiency |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 58 | Scoliosis |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 59 | Self-mutilation |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 60 | sleep disturbance |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 61 | Thickened glomerular basement membrane |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
| 62 | Abnormal weight loss |
1 (6.3%) | 0 (0.0%) | 15 (93.8%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.