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ONTOLOGY REPORT - ANNOTATIONS


Term:Hepatic Porphyrias
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Accession:DOID:9005584 term browser browse the term
Definition:A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Synonyms:exact_synonym: Hepatic Porphyria
 primary_id: MESH:D017094;   RDO:0007027
For additional species annotation, visit the Alliance of Genome Resources.


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Hepatic Porphyrias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:4144806
RGD:11554173
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:4144824
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:4144806
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:4144806
G Ppox protoporphyrinogen oxidase JBrowse link 13 89,650,094 89,654,998 RGD:1599174
RGD:1599172
RGD:4145281
RGD:1599176
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:4145290
RGD:8554872
RGD:4144806
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:7240710
RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449130
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
erythropoietic protoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:13592920
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:13592920
G Areg amphiregulin JBrowse link 14 18,521,921 18,531,179 RGD:11554173
G Btc betacellulin JBrowse link 14 18,231,854 18,270,621 RGD:11554173
G Ereg epiregulin JBrowse link 14 18,577,620 18,591,395 RGD:11554173
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:7240710
RGD:8554872
RGD:11554173
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872
Harderoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
hepatoerythropoietic porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
hereditary coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:7240710
RGD:8554872
RGD:11554173
porphyria cutanea tarda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904671
RGD:12904682
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:11554173
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576310
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 JBrowse link 8 62,451,360 62,458,244 RGD:11554173
RGD:11576316
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:11576316
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:7207253
RGD:8694367
RGD:8694347
RGD:7240710
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:1599713
RGD:8554872
RGD:11554173
RGD:7240710
RGD:4145077
RGD:4144182
Porphyria Cutanea Tarda, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
PROTOPORPHYRIA, ERYTHROPOIETIC, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit JBrowse link 8 70,789,137 70,843,133 RGD:8554872
RGD:7240710
variegate porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:7240710
G Ppox protoporphyrinogen oxidase JBrowse link 13 89,650,094 89,654,998 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        porphyria 21
          Hepatic Porphyrias 17
            ALAD-Deficiency Porphyria 2
            erythropoietic protoporphyria + 7
            hepatoerythropoietic porphyria 1
            hereditary coproporphyria + 1
            porphyria cutanea tarda + 7
            variegate porphyria 2
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            porphyria 21
              Hepatic Porphyrias 17
                ALAD-Deficiency Porphyria 2
                erythropoietic protoporphyria + 7
                hepatoerythropoietic porphyria 1
                hereditary coproporphyria + 1
                porphyria cutanea tarda + 7
                variegate porphyria 2
paths to the root