Details of Disease

General Information of Disease (ID: DIS9LXSQ)

Disease Name X-linked erythropoietic protoporphyria
Synonyms
Erythrohepatic protoporphyria, X-linked; protoporphyria, erythropoietic, X-linked; protoporphyria, erythropoietic, X-linked dominant; XLP; XLEPP; erythropoietic protoporphyria, X-linked; XLDPP; X-linked dominant protoporphyria; XLPP; X-linked dominant erythropoietic protoporphyria
Definition X-linked form of erythropoietic protoporphyria.
Disease Hierarchy
DISH4BY0: Erythropoietic protoporphyria
DIS3PN9X: X-linked disease
DIS9LXSQ: X-linked erythropoietic protoporphyria
Disease Identifiers
MONDO ID
MONDO_0010420
MESH ID
C567464
UMLS CUI
C2677889
OMIM ID
300752
MedGen ID
394385
Orphanet ID
443197
SNOMED CT ID
1197360001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALAS2 DE437BY Strong Biomarker [1]
ALAS2 DE437BY Definitive X-linked [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALAS2 OTJXOUCL Definitive X-linked [2]
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References

1 Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.
2 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.