Details of Disease | DrugMAP

General Information of Disease (ID: DISUYEZI)

Disease Name	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Synonyms	SHILCA; SHILCA syndrome; spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Disease Hierarchy	DISA5PVY: NMNAT1-related retinopathy DIS2BIP8: Congenital nervous system disorder DISUYEZI: Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Disease Identifiers	MONDO ID MONDO_0031007 UMLS CUI C5543257 OMIM ID 619260 MedGen ID 1780157 Orphanet ID 611207

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	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

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

References

1	An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 Aug 3;29(13):2250-2260. doi: 10.1093/hmg/ddaa112.