Create issue ticket

677 Possible Causes for Erythropoietic Porphyria

  • Porphyria

    Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[doi.org] Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[web.archive.org] Badminton, A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases, British Journal of Dermatology, 167, 4, (888-900), (2012).[doi.org]

  • Acute Hepatic Porphyria

    porphyria E80.1 Porphyria cutanea tarda E80.2 Other and unspecified porphyria E80.20 Unspecified porphyria E80.21 Acute intermittent (hepatic) porphyria E80.3 Defects of[icd10data.com] AIP VP HCP Variegate Coproporphyria Additional relevant MeSH terms: Layout table for MeSH terms Porphyrias Porphyria, Erythropoietic Porphyrias, Hepatic Coproporphyria, Hereditary[clinicaltrials.gov] 2015/16 ICD-10-CM E80.29 Other porphyria Approximate Synonyms Acute intermittent porphyria Disorder of porphyrin metabolism Erythropoietic protoporphyria Porphyria Porphyria[icd9data.com]

  • Erythropoietic Porphyria

    (disorder) Gunther disease Erythropoietic porphyria Congenital erythropoietic porphyria Uroporphyrinogen 3 Synthase Deficiency GC Günther disease PORPHYRIA, CONGENITAL ERYTHROPOIETIC[wikidata.org] To date 130 cases of congenital erythropoietic porphyria have been published and are summarized here.[ncbi.nlm.nih.gov] Congenital erythropoietic porphyria — codes and concepts open What is congenital erythropoietic porphyria?[dermnetnz.org]

  • Hepatoerythropoietic Porphyria

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov] Certain clinical and biochemical features distinguish HEP from erythropoietic porphyria and erythropoietic protoporphyria, the two diseases with which HEP is often confused[ncbi.nlm.nih.gov] It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms[ncbi.nlm.nih.gov]

  • Erythropoietic Coproporphyria

    Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum. Genet. 53 (1980) 217–221 Google Scholar Doss, M.[link.springer.com] erythropoietic coproporphyria a rare type of erythropoietic porphyria characterized by mild skin photosensitivity and elevated levels of erythrocyte coproporphyrin III.[medicine.academic.ru] From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease).[link.springer.com]

  • Erythropoietic Protoporphyria

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov] Erythropoietic protoporphyria (EPP) is the most common of the erythropoietic porphyrias.[ncbi.nlm.nih.gov] […] to erythropoiesis. erythropoietic porphyria porphyria of genetic origin; a manifestation of involvement of erythropoietic tissue. erythropoietic protoporphyria protoporphyria[medical-dictionary.thefreedictionary.com]

  • Hereditary Coproporphyria

    From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease).[ncbi.nlm.nih.gov] Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum. Genet. 53 (1980) 217–221 Google Scholar Doss, M.[link.springer.com] Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov]

  • Hypertrichosis

    Hypertrichosis is also a feature of congenital erythropoietic porphyria Idiopathic hirsutism Idiopathic hirsutism describes the presence in girls of excessive body hair in[en.tzermias.gr] - Congenital erythropoietic porphyria manifests by extreme photosensitivity, causing vesiculobullous lesions on sun exposed areas, followed by hyperpigmentation, scarring[e-ijd.org] Same may occur in erythropoietic protoporphyria.[e-ijd.org]

  • Hypersplenism

    Accessory spleens are usually asymptomatic, although they may cause hematological disorders associated with hypersplenism, usually after splenectomy. Moreover, cases of hypersplenism occurring secondary to enlargement of an accessory spleen with an unaltered normal spleen have been reported. An accessory spleen[…][ncbi.nlm.nih.gov]

  • Porphyria Cutanea Tarda

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[icdlist.com] Called also intermittent acute porphyria. congenital erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating[medical-dictionary.thefreedictionary.com] porphyria Congenital erythropoietic porphyria Erythropoietic protoporphyria Hepatoerythropoietic porphyria Hereditary coproporphyria Porphyria cutanea tarda Variegate porphyria[genome.gov]

Further symptoms