Details of Disease

General Information of Disease (ID: DIS3A1IS)

Disease Name Cone-rod dystrophy 19
Synonyms TTLL5 cone-rod dystrophy; cone-rod dystrophy type 19; cone-rod dystrophy 19; cone-rod dystrophy caused by mutation in TTLL5; CORD19
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DIS3A1IS: Cone-rod dystrophy 19
Disease Identifiers
MONDO ID
MONDO_0014372
UMLS CUI
C4014501
OMIM ID
615860
MedGen ID
862938

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
TTLL5 OTUKOVEM Definitive Autosomal recessive [1]
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References

1 Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003.