Coproporphyria, hereditary

Preferred Label : Coproporphyria, hereditary;

Symbol : HCP;

CISMeF acronym : HCP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Coproporphyrinogen oxidase deficiency; Cpox deficiency; Cpo deficiency; Cpx deficiency;

Description : Hereditary coproporphyria, an autosomal dominant acute hepatic porphyria, is characterized by acute attacks of neurologic dysfunction often provoked by drugs, fasting, menstrual cycle, or infectious diseases. Skin photosensitivity may also be present. Excretion of large amounts of coproporphyrin III, mostly in feces and urine, is observed. Harderoporphyria is a rare homozygous erythropoietic variant form of HCP, characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. During childhood and adulthood, a mild residual anemia is chronically observed (review by Schmitt et al., 2005).;

Inheritance : Autosomal dominant; Autosomal recessive (rare);

Molecular basis : Caused by mutation in the coproporphyrinogen oxidase gene (CPO, 612732.0001);

Laboratory abnormalities : Increased coproporphinogen III (urine and fecal); Coproporphinogen oxidase deficiency (approximately 50% activity, fibroblasts and lymphocytes); Increased urinary porphobilinogen (PBG, acute attack); Increased urinary 5-aminolevulinic acid (ALA, acute attack);

Prefixed ID : #121300;

Details

Origin ID

121300;

UMLS CUI

C0162531;

Automatic exact mappings (from CISMeF team)
- AMBP wt Allele [NCIt concept]
- Harderoporphyria [ICD-11 More detail]
- Healthcare Proxy [NCIt concept]
- Homozygous hereditary coproporphyria (disorder) [SNOMED CT concept]
- PTPN6 wt Allele [NCIt concept]
- alpha-1-microglobulin/bikunin precursor [HGNC gene]
- coproporphyrinogen oxidase [ORDO Gene]
- coproporphyrinogen oxidase [HGNC gene]
- harderoporphyria [MeSH concept]
- harderoporphyria [MeSH Supplementary Concept]
- protein tyrosine phosphatase non-receptor type 6 [HGNC gene]
Currated CISMeF NLP mapping
- Hereditary Coproporphyria [NCIt concept]
- Hereditary coproporphyria [ICD-11 More detail]
- Hereditary coproporphyria [ORDO Disease]
- Hereditary coproporphyria [MedDRA LLT]
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- Other and unspecified porphyria [ICD-10 Sub-category]
- Other porphyria [ICD-10 Sub-category (who)]
- coproporphyria, hereditary [MeSH Descriptor]
- coproporphyria, hereditary [MeSH concept]
- hereditary coproporphyria [Disease (Nov.)]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [SNOMED Notion]
DO Cross reference
- hereditary coproporphyria [DO Concept]
Genes related to phenotype
- Coproporphyrinogen oxidase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Acute episodes of neuropathic symptoms [HPO term]
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Confusion [HPO term]
- Constipation [HPO term]
- Cutaneous photosensitivity [HPO term]
- Depression [HPO term]
- Diarrhea [HPO term]
- Elevated urinary delta-aminolevulinic acid [HPO term]
- Hallucinations [HPO term]
- Hepatomegaly [HPO term]
- Hypertension [HPO term]
- Incomplete penetrance [HPO term]
- Increased fecal coproporphyrin 3 [HPO term]
- Increased urinary porphobilinogen [HPO term]
- Insomnia [HPO term]
- Jaundice [HPO term]
- Paranoia [HPO term]
- Peripheral neuropathy [HPO term]
- Respiratory paralysis [HPO term]
- Splenomegaly [HPO term]
- Tachycardia [HPO term]
- Vomiting [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Hereditary coproporphyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Coproporphyria [NCIt concept]
- Hereditary coproporphyria [MedDRA LLT]
- Hereditary coproporphyria [ORDO Disease]
- Hereditary coproporphyria [ICD-11 More detail]
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- Other porphyria [ICD-10 Sub-category (who)]
- coproporphyria, hereditary [MeSH Descriptor]
- coproporphyria, hereditary [MeSH concept]
- hereditary coproporphyria [SNOMED Notion]
- hereditary coproporphyria [DO Concept]
- hereditary coproporphyria [Disease (Nov.)]

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