Research Evidence
Peer-reviewed studies linked via MeSH term "Coproporphyria, Hereditary" from the MEDLINE/PubMed database.
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Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.
[object Object], [object Object], [object Object] · Intern Med · 2024
Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient.
[object Object], [object Object], [object Object] et al. · Biomed Res Int · 2022
Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene.
[object Object], [object Object], [object Object] et al. · J Dermatol Sci · 2020
PMID: 33008663Case Report
Opioid dependence with successful transition to suboxone (buprenorphine/naloxone) in a young woman with hereditary coproporphyria.
[object Object], [object Object], [object Object] · N Z Med J · 2020
PMID: 32683436Case Report
A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias.
[object Object], [object Object], [object Object] et al. · Eur J Intern Med · 2014
PMID: 24809927Review
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
[object Object], [object Object], [object Object] et al. · Int J Dermatol · 2013
PMID: 24261722Review
The acute hepatic porphyrias: current status and future challenges.
[object Object], [object Object], [object Object] et al. · Best Pract Res Clin Gastroenterol · 2010
PMID: 20955962Review
Modern diagnosis and management of the porphyrias.
[object Object] · Br J Haematol · 2006
PMID: 16956347Review
Search all PubMed articles for Hereditary coproporphyria
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated circulating heptacarboxylporphyrin concentration
Always present (100%)HP:6000698
Increased fecal coproporphyrin 3
Always present (100%)HP:0033010
Low-set ears
Always present (100%)HP:0000369
Multiple cafe-au-lait spots
Always present (100%)HP:0007565
Posteriorly angulated ears
Always present (100%)HP:0000358
Abnormal circulating porphyrin concentration
Very frequent (80-99%)HP:0010472
Elevated urinary delta-aminolevulinic acid
Very frequent (80-99%)HP:0003163
Stomach pain
Very frequent (80-99%)HP:0002027
Abnormality of skin morphology
Frequent (30-79%)HP:0011121
Atypical scarring
Frequent (30-79%)HP:0000987
Axillary freckling
Frequent (30-79%)HP:0000997
Dark urine
Frequent (30-79%)HP:0040319
Frequent vomiting
Frequent (30-79%)HP:0002572
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased urinary porphobilinogen
Frequent (30-79%)HP:0012217
Inguinal freckling
Frequent (30-79%)HP:0030052
Limb pain
Frequent (30-79%)HP:0009763
Nausea
Frequent (30-79%)HP:0002018
Palpebronasal fold
Frequent (30-79%)HP:0000286
Pectus carinatum
Frequent (30-79%)HP:0000768
Porphyrinuria
Frequent (30-79%)HP:0010473
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Psychomotor retardation, moderate
Frequent (30-79%)HP:0011343
Pulmonary stenosis
Frequent (30-79%)HP:0001642
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Acute episodes of neuropathic symptoms
Occasional (5-29%)HP:0003489
Back pain
Occasional (5-29%)HP:0003418
Cutaneous photosensitivity
Occasional (5-29%)HP:0000992
Elevated heart rate
Occasional (5-29%)HP:0001649
Quick Facts
- SNOMED CT
- 7425008
- UMLS CUI
- C0162531
- Fully Specified Name
- Hereditary coproporphyria (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.