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Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.
Features include always present findings: Global developmental delay and Molar tooth sign on MRI; and very common findings: Hyperventilation and Oculomotor apraxia. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Global developmental delay, Ataxia |
CPLANE1 encodes ciliogenesis and planar polarity effector complex subunit 1 (3,197 aa). Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration. Highest expression in Brain Cerebellum (14.0 TPM) and Nerve Tibial (13.6 TPM).
Joubert syndrome 17 is caused by mutations in the CPLANE1 gene on chromosome 5.
CPLANE1 is classified as a druggable target with score 0.0.
Genetic testing for CPLANE1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 17 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 2 very common features.
No clinical trials have been registered for Joubert syndrome 17.
21 publications have been identified in PubMed for Joubert syndrome 17. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 43% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 17
2 |
Oculomotor apraxia, Abnormal retinal morphology |
Arms and legs | 1 | 3-4 finger cutaneous syndactyly |
Kidneys and urinary system | 1 | Abnormal renal morphology |
7 |
33% |
Testing and diagnosis research | 2 | 10% |
Research summaries | 2 | 10% |
Disease patterns and progression | 1 | 5% |
Park JS (2026). [PMID: 42115107](https://pubmed.ncbi.nlm.nih.gov/42115107/). *Mov Disord Clin Pract*. [Case Report / Case Series]
Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clinical genetics*. [Basic Science / Preclinical]
Managi A (2025). [PMID: 41536388](https://pubmed.ncbi.nlm.nih.gov/41536388/). *Cureus*. [Basic Science / Preclinical]
Jones N (2025). [PMID: 41064626](https://pubmed.ncbi.nlm.nih.gov/41064626/). *Case reports in nephrology and dialysis*. [Case Report / Case Series]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Kiraz A (2025). [PMID: 40448720](https://pubmed.ncbi.nlm.nih.gov/40448720/). *Neurogenetics*. [Case Report / Case Series]
Hong Z (2025). [PMID: 40074699](https://pubmed.ncbi.nlm.nih.gov/40074699/). *Journal of cellular and molecular medicine*. [Basic Science / Preclinical]
Shankarappa B (2025). [PMID: 39911166](https://pubmed.ncbi.nlm.nih.gov/39911166/). *Molecular syndromology*. [Basic Science / Preclinical]
Babiker AI (2025). [PMID: 41552241](https://pubmed.ncbi.nlm.nih.gov/41552241/). *Cureus*. [Case Report / Case Series]
D'Abrusco F (2025). [PMID: 39394465](https://pubmed.ncbi.nlm.nih.gov/39394465/). *European journal of human genetics : EJHG*. [Diagnostic / Biomarker]