Details of Disease | DrugMAP

General Information of Disease (ID: DISA5PVY)

Disease Name	NMNAT1-related retinopathy
Synonyms	amaurosis congenita of Leber, type 9; Leber congenital amaurosis 9; NMNAT1 Leber congenital amaurosis; SHILCA; Leber congenital amaurosis caused by mutation in NMNAT1; Leber congenital amaurosis type 9; LCA9; SHILCA Syndrome; spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; NMNAT1-related retinopathy
Definition	A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DISA5PVY: NMNAT1-related retinopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NMNAT1	DE4D159	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NMNAT1	OTGJH9XH	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.