Details of Disease

General Information of Disease (ID: DISOWA5A)

Disease Name Leber congenital amaurosis 4
Synonyms
retinitis pigmentosa, juvenile; amaurosis congenita of Leber, type 4; retinitis pigmentosa, juvenile, Aipl1-related; cone-rod dystrophy, Aipl1-related; cone-rod dystrophy; LCA4; AIPL1 Leber congenital amaurosis; Leber congenital amaurosis caused by mutation in AIPL1; Leber congenital amaurosis type 4; Leber congenital amaurosis 4
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.
Disease Hierarchy
DIS0O22O: AIPL1-related retinopathy
DISY9RWN: Cone-rod dystrophy
DISMGH8F: Leber congenital amaurosis
DISOWA5A: Leber congenital amaurosis 4
Disease Identifiers
MONDO ID
MONDO_0011458
MESH ID
C565778
UMLS CUI
C1858386
OMIM ID
604393
MedGen ID
346808

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
AIPL1 OT4VBD78 Definitive Autosomal recessive [1]
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References

1 Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001.