Details of Disease | DrugMAP

General Information of Disease (ID: DISI1WCX)

Disease Name	UROD-related inherited porphyria
Definition	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.
Disease Hierarchy	DISEPFG2: Inherited porphyria DISI1WCX: UROD-related inherited porphyria

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
UROD	OTPP4UH5	Definitive	Semidominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.