Research Evidence
Peer-reviewed studies linked via MeSH term "Porphyria, Hepatoerythropoietic" from the MEDLINE/PubMed database.
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Erythropoietic porphyrias: animal models and update in gene-based therapies.
[object Object], [object Object], [object Object] et al. · Curr Gene Ther · 2008
PMID: 18537592Review
Modern diagnosis and management of the porphyrias.
[object Object] · Br J Haematol · 2006
PMID: 16956347Review
[Erythropoietic protoporphyria].
[object Object], [object Object], [object Object] · Ann Dermatol Venereol · 2004
PMID: 15026756Review
Erythropoietic protoporphyria (EPP) at 40. Where are we now?
[object Object] · Photodermatol Photoimmunol Photomed · 2002
PMID: 12207680Review
Diseases associated with photosensitivity.
[object Object] · J Photochem Photobiol B · 2001
PMID: 11744394Review
Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria--diagnosis, care and monitoring of the patient.
[object Object], [object Object], [object Object] · Scand J Clin Lab Invest · 2000
PMID: 11202051Review
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
[object Object], [object Object], [object Object] et al. · Eur J Pediatr · 2000
PMID: 11039124Review
Molecular aspects of the inherited porphyrias.
[object Object], [object Object] · J Intern Med · 2000
PMID: 10692079Review
Ferrochelatase at the millennium: structures, mechanisms and [2Fe-2S] clusters.
[object Object], [object Object], [object Object] et al. · Cell Mol Life Sci · 2000
Search all PubMed articles for Homozygous porphyria cutanea tarda
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cutaneous photosensitivity
Always present (100%)HP:0000992
Porphyrinuria
Always present (100%)HP:0010473
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Fragile skin
Very frequent (80-99%)HP:0001030
Severe sun sensitivity
Very frequent (80-99%)HP:0007537
Skin bullae
Very frequent (80-99%)HP:0008066
Abnormal circulating porphyrin concentration
Frequent (30-79%)HP:0010472
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Increased fecal porphyrin
Frequent (30-79%)HP:0032999
Melanoderma
Frequent (30-79%)HP:0000953
Nonimmune hydrops fetalis
Frequent (30-79%)HP:0001790
Purple urine
Frequent (30-79%)HP:0040322
Recurrent bacterial skin infections
Frequent (30-79%)HP:0005406
Red teeth
Frequent (30-79%)HP:0030756
Red urine
Frequent (30-79%)HP:0040318
Red-brown urine
Frequent (30-79%)HP:0040320
Scar tissue
Frequent (30-79%)HP:0100699
Skin erosion
Frequent (30-79%)HP:0200041
Abnormality of the amniotic fluid
Occasional (5-29%)HP:0001560
Bleeding tendency
Occasional (5-29%)HP:0001892
Bone marrow smear shows erythroid hyperplasia
Occasional (5-29%)HP:0012132
Ciliary Madarosis
Occasional (5-29%)HP:0011457
Corneal ulcerations
Occasional (5-29%)HP:0012804
Everted eyelid
Occasional (5-29%)HP:0000656
Hair loss on scalp from scarring condition
Occasional (5-29%)HP:0004552
Hemolytic anaemia
Occasional (5-29%)HP:0001878
Increased facial hair growth
Occasional (5-29%)HP:0002219
Large spleen
Occasional (5-29%)HP:0001744
Osteopenia
Occasional (5-29%)HP:0000938
Osteoporosis
Occasional (5-29%)HP:0000939
Related Conditions
Quick Facts
- SNOMED CT
- 111386004
- UMLS CUI
- C0162569
- Fully Specified Name
- Homozygous porphyria cutanea tarda (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.