Harderoporphyria

Preferred Label : Harderoporphyria;

Symbol : HARPO;

CISMeF acronym : HARPO;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coproporphyrinogen oxidase gene (CPO, 612732.0003);

Laboratory abnormalities : Increased serum ferritin; Increased coproporphyrin (urine); Red discoloration of urine; Increased urinary porphobilinogen (PBG, acute attack); Neonatal hyperbilirubinemia; Increased urinary 5-aminolevulinic acid (ALA, acute attack); Increased harderoporphyrin (urine and feces); Coproporphyrinogen oxidase deficiency ( 10% activity, lymphocytes); Increased RBC protoporphyrin;

Prefixed ID : #618892;

Détails

Origin ID

618892;

UMLS CUI

C0342859;

Currated CISMeF NLP mapping
- Harderoporphyria [ICD-11 More detail]
- Homozygous hereditary coproporphyria (disorder) [SNOMED CT concept]
- harderoporphyria [MeSH concept]
- harderoporphyria [MeSH Supplementary Concept]
Genes related to phenotype
- Coproporphyrinogen oxidase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cutaneous photosensitivity [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased urinary porphobilinogen [HPO term]
- Increased urine harderoporphyrin level [HPO term]
- Neonatal hyperbilirubinemia [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Red urine [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Harderoporphyria [ICD-11 More detail]
- Homozygous hereditary coproporphyria [ICD-11 More detail]
- Homozygous hereditary coproporphyria (disorder) [SNOMED CT concept]
- harderoporphyria [MeSH concept]
- harderoporphyria [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients