Details of Disease | DrugMAP

General Information of Disease (ID: DIS2YFDG)

Disease Name	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Synonyms	PXE-like syndrome with retinitis pigmentosa
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS4SKIE: Dermis disorder DIS2YFDG: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Disease Identifiers	MONDO ID MONDO_0018577 UMLS CUI C5680045 MedGen ID 1810682 Orphanet ID 436274 SNOMED CT ID 1220599002

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
GGCX	TT76OLR	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GGCX	OTE0FNAP	Supportive	Autosomal recessive	[1]
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References

1	Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. J Invest Dermatol. 2014 Sep;134(9):2331-2338. doi: 10.1038/jid.2014.191. Epub 2014 Apr 16.