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Features include always present findings: Retinal detachment, High myopia, Enamel hypoplasia, and Abnormal lung tissue (abnormal pulmonary interstitial morphology) and others; and common findings: Seizure, Single umbilical artery, Pyloric stenosis, and Global developmental delay and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Seizure, Global developmental delay, Intellectual disability |
PAK2 function has not been fully characterized.
Knobloch syndrome 2 is associated with mutations in the PAK2 gene on chromosome 3.
Genetic testing for PAK2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features, 13 common features.
No clinical trials have been registered for Knobloch syndrome 2.
13 publications have been identified in PubMed for Knobloch syndrome 2. Research spans Case Report / Case Series (69%), Review / Meta-Analysis (8%), and Clinical Trial Publication (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 69% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:13 PM UTC
Online Mendelian Inheritance in Man
Common questions about Knobloch syndrome 2
Lungs and breathing | 3 | Bronchial wall thickening, Abnormal lung tissue (abnormal pulmonary interstitial morphology), Recurrent respiratory infections |
Eyes | 2 | Retinal detachment, Anterior cortical cataract |
Digestive system | 1 | Chronic constipation |
Blood and immune system | 1 | Recurrent respiratory infections |
1 |
8% |
Clinical study results | 1 | 8% |
Laboratory research | 1 | 8% |
Disease patterns and progression | 1 | 8% |
Fettinger N (2026). [PMID: 41287158](https://pubmed.ncbi.nlm.nih.gov/41287158/). *Ophthalmic Genet*. [Case Report / Case Series]
Asadollahzadeh E (2026). [PMID: 41767075](https://pubmed.ncbi.nlm.nih.gov/41767075/). *Clin Case Rep*. [Case Report / Case Series]
Gao X (2025). [PMID: 41645371](https://pubmed.ncbi.nlm.nih.gov/41645371/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Werren EA (2025). [PMID: 39876536](https://pubmed.ncbi.nlm.nih.gov/39876536/). *Am J Med Genet A*. [Case Report / Case Series]
Domenach L (2025). [PMID: 39994693](https://pubmed.ncbi.nlm.nih.gov/39994693/). *BMC Med Genomics*. [Case Report / Case Series]
Lodha A (2025). [PMID: 40262506](https://pubmed.ncbi.nlm.nih.gov/40262506/). *Int J Surg Case Rep*. [Case Report / Case Series]
Ozdek S (2025). [PMID: 40374141](https://pubmed.ncbi.nlm.nih.gov/40374141/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Ghoraba HH (2025). [PMID: 39837650](https://pubmed.ncbi.nlm.nih.gov/39837650/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Shen L (2025). [PMID: 40247748](https://pubmed.ncbi.nlm.nih.gov/40247748/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Alzaben KA (2024). [PMID: 38556002](https://pubmed.ncbi.nlm.nih.gov/38556002/). *Ophthalmol Retina*. [Clinical Trial Publication]