Details of Disease | DrugMAP

General Information of Disease (ID: DISZTDDR)

Disease Name	Cone-rod dystrophy 5
Synonyms	cone-rod dystrophy 5; cone-rod dystrophy type 5; PITPNM3 cone-rod dystrophy; CORD5; cone-rod dystrophy caused by mutation in PITPNM3
Definition	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.
Disease Hierarchy	DISY9RWN: Cone-rod dystrophy DISZTDDR: Cone-rod dystrophy 5
Disease Identifiers	MONDO ID MONDO_0010969 MESH ID C563415 UMLS CUI C1832976 OMIM ID 600977 MedGen ID 322083

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GUCY2D	TTWNFC2	Limited	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PITPNM3	OTHLZY8D	Strong	Autosomal dominant	[2]
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References

1	Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.Hum Mutat. 2003 Feb;21(2):170-1. doi: 10.1002/humu.9109.
2	Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. Eur J Hum Genet. 2007 Jun;15(6):664-71. doi: 10.1038/sj.ejhg.5201817. Epub 2007 Mar 21.