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Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.
Features include always present findings: Low muscle tone (hypotonia), Ataxia, Oculomotor apraxia, and Intellectual disability and others; and common findings: Thin corpus callosum and Frontal polymicrogyria. 31 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 6 | Pigmentary retinopathy, Nystagmus, Oculomotor apraxia |
AHI1 encodes Abelson helper integration site 1 (1,196 aa). Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Highest expression in Pituitary (46.1 TPM) and Brain Cerebellar Hemisphere (45.4 TPM).
Joubert syndrome 3 is caused by mutations in the AHI1 gene on chromosome 6.
AHI1 is classified as a druggable target with score 0.0.
Genetic testing for AHI1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 2 common features.
No clinical trials have been registered for Joubert syndrome 3.
13 publications have been identified in PubMed for Joubert syndrome 3. Research spans Basic Science / Preclinical (54%) and Case Report / Case Series (46%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 54% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 3
Kidneys and urinary system
2 |
Stage 5 chronic kidney disease, Nephronophthisis |
Brain and nerves | 2 | Ataxia, Intellectual disability |
Muscles | 1 | Low muscle tone (hypotonia) |
Lungs and breathing | 1 | Central apnea |
Pregnancy and birth | 1 | Neonatal breathing dysregulation |
Heart and blood vessels | 1 | Atrial septal defect |
Age of onset: at birth.
6 |
46% |
Dababseh BH (2026). [PMID: 41550404](https://pubmed.ncbi.nlm.nih.gov/41550404/). *Clinical case reports*. [Basic Science / Preclinical]
Diler Durgut B (2026). [PMID: 41979576](https://pubmed.ncbi.nlm.nih.gov/41979576/). *Neurocase*. [Case Report / Case Series]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *International journal of biological sciences*. [Basic Science / Preclinical]
Pardo LM (2025). [PMID: 41054827](https://pubmed.ncbi.nlm.nih.gov/41054827/). *Clinical genetics*. [Case Report / Case Series]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Progress in retinal and eye research*. [Basic Science / Preclinical]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Aynekin B (2025). [PMID: 41230208](https://pubmed.ncbi.nlm.nih.gov/41230208/). *Molecular syndromology*. [Basic Science / Preclinical]
Salari M (2025). [PMID: 40526232](https://pubmed.ncbi.nlm.nih.gov/40526232/). *Cerebellum (London, England)*. [Basic Science / Preclinical]
Shankar M (2025). [PMID: 40896634](https://pubmed.ncbi.nlm.nih.gov/40896634/). *Indian journal of nephrology*. [Case Report / Case Series]
Kiraz A (2025). [PMID: 40448720](https://pubmed.ncbi.nlm.nih.gov/40448720/). *Neurogenetics*. [Case Report / Case Series]