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Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.
Features include always present findings: Reduced visual acuity, Retinal dots, and Macular coloboma; and very common findings: Hypermetropia. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 15 | Retinal pigment epithelial mottling, Keratoconus, Nystagmus |
NMNAT1 encodes nicotinamide nucleotide adenylyltransferase 1 (279 aa). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Highest expression in Cells Cultured fibroblasts (10.7 TPM) and Thyroid (7.5 TPM).
Leber congenital amaurosis 9 is associated with mutations in the NMNAT1 gene on chromosome 1.
The NMNAT1 protein participates in NMNAT1 transfers an adenylyl group from ATP to NAMN to yield NAAD pathway.
NMNAT1 is classified as a druggable target (Enzyme category) with score 0.0.
Genetic testing for NMNAT1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 1 very common feature, 6 common features.
No clinical trials have been registered for Leber congenital amaurosis 9.
11 publications have been identified in PubMed for Leber congenital amaurosis 9. Research spans Basic Science / Preclinical (30%), Epidemiology / Natural History (30%), and Case Report / Case Series (20%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 3 | 30% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:44 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 9
2 |
Macular atrophy, Damage to the optic nerve (optic atrophy) |
Bones and joints | 1 | Bone spicule pigmentation of the retina |
Disease patterns and progression
3 |
30% |
Patient case studies | 2 | 20% |
New treatment approaches | 2 | 20% |
Kohkalani M (2026). [PMID: 41893925](https://pubmed.ncbi.nlm.nih.gov/41893925/). *Mol Biol Rep*. [Case Report / Case Series]
Zhang H (2026). [PMID: 41922335](https://pubmed.ncbi.nlm.nih.gov/41922335/). *Cell Death Dis*. [Gene Therapy / Novel Therapeutics]
Gong X (2025). [PMID: 40232708](https://pubmed.ncbi.nlm.nih.gov/40232708/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Zhang H (2025). [PMID: 40501637](https://pubmed.ncbi.nlm.nih.gov/40501637/). *bioRxiv*. [Basic Science / Preclinical]
Zhu S (2025). [PMID: 40192637](https://pubmed.ncbi.nlm.nih.gov/40192637/). *Invest Ophthalmol Vis Sci*. [Gene Therapy / Novel Therapeutics]
Lee YJ (2025). [PMID: 39710161](https://pubmed.ncbi.nlm.nih.gov/39710161/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Farooqui SZ (2025). [PMID: 40858513](https://pubmed.ncbi.nlm.nih.gov/40858513/). *Ophthalmic Genet*. [Epidemiology / Natural History]
Upadhyaya A (2025). [PMID: 39728598](https://pubmed.ncbi.nlm.nih.gov/39728598/). *Indian J Ophthalmol*. [Epidemiology / Natural History]
Kuribayashi H (2024). [PMID: 39446354](https://pubmed.ncbi.nlm.nih.gov/39446354/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Neissi M (2024). [PMID: 39445201](https://pubmed.ncbi.nlm.nih.gov/39445201/). *Clin Case Rep*. [Case Report / Case Series]