Details of Disease

General Information of Disease (ID: DISKRUWP)

• Disease Name: CPOX-related hereditary coproporphyria
• Definition: Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.|Per criteria outlined by the ClinGen Lumping and Splitting Working Group, the molecular mechanism (CPOX loss-of-function) was found to be consistent between the harderoporphyria cases and hereditary coproporphyria cases. In addition, the phenotypic differences between the biallelic and monoallelic cases appeared to represent a single spectrum of disease. Therefore, cases caused by inherited CPOX variants have been lumped into a single disease entity referred to as CPOX-related hereditary coproporphyria, with a semidominant mode of inheritance.
• Disease Hierarchy:
  DISEPFG2: Inherited porphyria
  DISKRUWP: CPOX-related hereditary coproporphyria

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPOX	OTIAY121	Definitive	Semidominant	[1]

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.