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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Erythropoietic Protoporphyria 1
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Accession:DOID:9004435 term browser browse the term
Definition:Erythropoietic protoporphyria-1 (EPP1) is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase (FECH), the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels. EPP1 is caused by compound heterozygous or homozygous mutation in FECH on chromosome 18q21. The disorder most often results from inheritance of a null FECH allele in trans with a low-expression FECH mutation prevalent in some populations, resembling autosomal dominant inheritance with incomplete penetrance. (OMIM)
Synonyms:exact_synonym: EPP1
 broad_synonym: AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA
 primary_id: OMIM:177000
For additional species annotation, visit the Alliance of Genome Resources.



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Erythropoietic Protoporphyria 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar
PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        porphyria 23
          acute porphyria 19
            erythropoietic protoporphyria 8
              Erythropoietic Protoporphyria 1 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            porphyria 23
              acute porphyria 19
                erythropoietic protoporphyria 8
                  Erythropoietic Protoporphyria 1 2
paths to the root