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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
 related_synonym: INCREASED ERYTHROCYTE PROTOPORPHYRIN CONCENTRATION
 primary_id: OMIM:177000


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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 (LAN blood group) IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G FECH ferrochelatase IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1
ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration		 OMIM
ClinVar		 PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		JBrowse link
G LOC129390998 MPRA-validated peak3163 silencer IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar NCBI chr18:57,547,384...57,547,584 JBrowse link
G LOC130062554 ATAC-STARR-seq lymphoblastoid active region 13370 IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar NCBI chr18:57,545,527...57,545,636 JBrowse link
G LOC130062555 ATAC-STARR-seq lymphoblastoid active region 13371 IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:1729699 PMID:25741868 PMID:28492532 NCBI chr18:57,580,195...57,580,244 JBrowse link
G LOC130062560 ATAC-STARR-seq lymphoblastoid silent region 9481 IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:8242081 PMID:20105171 PMID:23016163 PMID:23364466 PMID:25741868 More... NCBI chr18:57,586,524...57,586,883 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7704
        liver disease 3104
          Hepatic Porphyrias 31
            erythropoietic protoporphyria 12
              Erythropoietic Protoporphyria 1 6
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            skin disease 4874
              Genetic Skin Diseases 2469
                Hepatic Porphyrias 31
                  erythropoietic protoporphyria 12
                    Erythropoietic Protoporphyria 1 6
paths to the root