Details of Disease | DrugMAP

General Information of Disease (ID: DISV7IU5)

Disease Name	Autosomal recessive inherited pseudoxanthoma elasticum
Synonyms	pseudoxanthoma elasticum, modifier of severity of; PXE, modifier of severity of; Gronblad Strandberg syndrome; pseudoxanthoma elasticum; Gronblad-Strandberg syndrome; Gronblad-Strandberg-Touraine syndrome; PXE; Pseudoxanthoma Elasticum; AR inherited pseudoxanthoma elasticum
Definition	An autosomal recessive form of PXE.
Disease Hierarchy	DIS8WUQG: Pseudoxanthoma elasticum DISCPWH9: Autosomal recessive disease DISWSHA7: Inherited pseudoxanthoma elasticum DIS8I9FS: Hereditary disorder of connective tissue DISV7IU5: Autosomal recessive inherited pseudoxanthoma elasticum
Disease Identifiers	MONDO ID MONDO_0009925 UMLS CUI C1275116 MedGen ID 698415 Orphanet ID 758 SNOMED CT ID 403812000

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
ENPP1	TTZTIWS	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC6	DT582KR	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENPP1	OT3MPPYX	Supportive	Autosomal recessive	[1]
ABCC6	OTZT0LKT	Definitive	Autosomal recessive	[2]
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References

1	Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. J Invest Dermatol. 2015 May;135(5):1294-1302. doi: 10.1038/jid.2015.10. Epub 2015 Jan 23.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.