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Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).
Features include always present findings: Enamel agenesis, Yellow-brown discoloration of the teeth, and Visual impairment; and very common findings: Carious teeth, Nystagmus, and Photophobia. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 7 | Retinal pigment epithelial mottling, Nystagmus, Pendular nystagmus |
CNNM4 encodes cyclin and CBS domain divalent metal cation transport mediator 4 (775 aa). Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions. May play a role in biomineralization and retinal function Highest expression in Brain Cerebellum (40.5 TPM) and Brain Cerebellar Hemisphere (36.7 TPM).
Jalili syndrome is caused by mutations in the CNNM4 gene on chromosome 2.
CNNM4 is classified as a druggable target (Transporter category) with score 0.0.
Genetic testing for CNNM4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 3 very common features, 7 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Jalili syndrome.
13 publications have been identified in PubMed for Jalili syndrome. Research spans Case Report / Case Series (69%), Basic Science / Preclinical (15%), and Review / Meta-Analysis (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 69% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 2:42 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Jalili syndrome
Bones and joints
1 |
Bone spicule pigmentation of the retina |
Muscles | 1 | Macular atrophy |
2 |
15% |
Research summaries | 1 | 8% |
New treatment approaches | 1 | 8% |
Theunis M (2026). [PMID: 41126390](https://pubmed.ncbi.nlm.nih.gov/41126390/). *Ophthalmic genetics*. [Case Report / Case Series]
AlMoallem B (2026). [PMID: 42074478](https://pubmed.ncbi.nlm.nih.gov/42074478/). *Genes (Basel)*. [Case Report / Case Series]
Shah U (2026). [PMID: 41511424](https://pubmed.ncbi.nlm.nih.gov/41511424/). *Ophthalmology. Retina*. [Case Report / Case Series]
Sharda S (2026). [PMID: 41884925](https://pubmed.ncbi.nlm.nih.gov/41884925/). *Indian J Ophthalmol*. [Case Report / Case Series]
Rattanapornsompong K (2026). [PMID: 41876952](https://pubmed.ncbi.nlm.nih.gov/41876952/). *Oral Dis*. [Basic Science / Preclinical]
Tawfik CA (2025). [PMID: 40232358](https://pubmed.ncbi.nlm.nih.gov/40232358/). *Documenta ophthalmologica. Advances in ophthalmology*. [Case Report / Case Series]
Lu J (2025). [PMID: 41280631](https://pubmed.ncbi.nlm.nih.gov/41280631/). *International journal of ophthalmology*. [Review / Meta-Analysis]
Franca M (2025). [PMID: 39522753](https://pubmed.ncbi.nlm.nih.gov/39522753/). *Ophthalmology. Retina*. [Case Report / Case Series]
Zhang Y (2024). [PMID: 38488462](https://pubmed.ncbi.nlm.nih.gov/38488462/). *European journal of ophthalmology*. [Case Report / Case Series]
Ravi M (2024). [PMID: 38151709](https://pubmed.ncbi.nlm.nih.gov/38151709/). *Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry*. [Case Report / Case Series]