Details of Disease

General Information of Disease (ID: DISJW5JU)

Disease Name Leber congenital amaurosis 15
Synonyms
retinitis pigmentosa, juvenile, Tulp1-related; Leber congenital amaurosis caused by mutation in TULP1; Leber congenital amaurosis type 15; LCA15; TULP1 Leber congenital amaurosis; Leber congenital amaurosis 15
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DISJW5JU: Leber congenital amaurosis 15
Disease Identifiers
MONDO ID
MONDO_0013457
UMLS CUI
C3151206
OMIM ID
613843
MedGen ID
462556

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TULP1 OTHGHV6D Strong Autosomal recessive [1]
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References

1 Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. Invest Ophthalmol Vis Sci. 1999 Nov;40(12):2795-802.