Details of Disease

General Information of Disease (ID: DISPA1DO)

Disease Name Retinal cone dystrophy 3A
Synonyms
cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related; cone dystrophy with night blindness and supernormal rod responses PDE6H-related; achromatopsia 6; RCD3A; retinal cone dystrophy 3; retinal cone dystrophy type 3A; retinal cone dystrophy 3A
Definition Editor note: TODO logical defs for achromatopsias
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISKL51I: Achromatopsia
DISPA1DO: Retinal cone dystrophy 3A
Disease Identifiers
MONDO ID
MONDO_0012398
MESH ID
C566483
UMLS CUI
C1864900
OMIM ID
610024
MedGen ID
355864

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
PDE6H OTMLRB1D Strong Autosomal recessive [1]
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References

1 A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16.