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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.
Features include always present findings: Global developmental delay; and common findings: Dystonia, Irritability, Cerebral calcification, and Hypertension and others. 62 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 15 | Dystonia, Seizure, Diffuse leukoencephalopathy |
RNU7-1 function has not been fully characterized.
Aicardi-Goutieres syndrome 9 is associated with mutations in the RNU7-1 gene on chromosome 12.
Genetic testing for RNU7-1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Aicardi-Goutieres syndrome 9 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 5 common features.
No clinical trials have been registered for Aicardi-Goutieres syndrome 9.
15 publications have been identified in PubMed for Aicardi-Goutieres syndrome 9. Research spans Case Report / Case Series (60%), Diagnostic / Biomarker (13%), and Epidemiology / Natural History (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 60% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC
Online Mendelian Inheritance in Man
Common questions about Aicardi-Goutieres syndrome 9
Digestive system
8 |
Ascites, Feeding difficulties, Acute pancreatitis |
Kidneys and urinary system | 7 | Reduced kidney function (renal insufficiency), Hyperechogenic kidneys, Recurrent urinary tract infections |
Heart and blood vessels | 5 | Portal hypertension, Pericardial effusion, Pericarditis |
Muscles | 4 | Damage to the optic nerve (optic atrophy), Chorioretinal atrophy, Axial hypotonia |
Blood and immune system | 3 | Recurrent urinary tract infections, Low red blood cell count (anemia), Red blood cell destruction (hemolytic anemia) |
Growth and development | 3 | Failure to thrive, Weight loss, Intrauterine growth retardation |
Eyes | 2 | Nystagmus, Damage to the optic nerve (optic atrophy) |
Bones and joints | 2 | Weak and brittle bones (osteoporosis), Sideways curvature of the spine (scoliosis) |
Skin | 1 | Dry skin |
Head and neck | 1 | Microcephaly |
Arms and legs | 1 | Lower limb hypertonia |
Lab test results | 1 | Elevated circulating hepatic transaminase concentration |
Hormones | 1 | Hypothyroidism |
2 |
13% |
Disease patterns and progression | 2 | 13% |
Research summaries | 1 | 7% |
Laboratory research | 1 | 7% |
Le A (2026). [PMID: 41518854](https://pubmed.ncbi.nlm.nih.gov/41518854/). *Pediatric neurology*. [Epidemiology / Natural History]
Alwalid O (2026). [PMID: 41839614](https://pubmed.ncbi.nlm.nih.gov/41839614/). *AJNR. American journal of neuroradiology*. [Basic Science / Preclinical]
Yousaf H (2026). [PMID: 42221009](https://pubmed.ncbi.nlm.nih.gov/42221009/). *Front Pediatr*. [Case Report / Case Series]
Kollia M (2025). [PMID: 41049926](https://pubmed.ncbi.nlm.nih.gov/41049926/). *Cureus*. [Case Report / Case Series]
Unknown (2025). [PMID: 40714966](https://pubmed.ncbi.nlm.nih.gov/40714966/). *Developmental medicine and child neurology*. [Case Report / Case Series]
Beerepoot S (2025). [PMID: 40176112](https://pubmed.ncbi.nlm.nih.gov/40176112/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
Zhao Y (2025). [PMID: 39966038](https://pubmed.ncbi.nlm.nih.gov/39966038/). *Annals of the rheumatic diseases*. [Diagnostic / Biomarker]
Abdel-Salam GMH (2025). [PMID: 40302656](https://pubmed.ncbi.nlm.nih.gov/40302656/). *International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience*. [Case Report / Case Series]
Le Floch K (2025). [PMID: 40442339](https://pubmed.ncbi.nlm.nih.gov/40442339/). *Pediatric radiology*. [Case Report / Case Series]
Peixoto de Barcelos I (2024). [PMID: 39332260](https://pubmed.ncbi.nlm.nih.gov/39332260/). *Molecular genetics and metabolism*. [Epidemiology / Natural History]
AI-curated news mentioning Aicardi-Goutieres syndrome 9
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.