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Increased fecal harderoporphyrin

MedGen UID:
1841832
Concept ID:
C5826418
Finding
Synonym: Harderoporphyrin high in stool
 
HPO: HP:0034472

Definition

Abnormally high concentration of harderoporphyrin in feces. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased fecal harderoporphyrin

Conditions with this feature

Harderoporphyria
MedGen UID:
137981
Concept ID:
C0342859
Disease or Syndrome
Harderoporphyria (HARPO) is a rare erythropoietic variant form of hereditary coproporphyria (HCP; 121300) 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).

Recent clinical studies

Diagnosis

Thunell S, Holmberg L, Lundgren J
J Clin Chem Clin Biochem 1987 Jan;25(1):5-14. doi: 10.1515/cclm.1987.25.1.5. PMID: 3559484

Prognosis

Thunell S, Holmberg L, Lundgren J
J Clin Chem Clin Biochem 1987 Jan;25(1):5-14. doi: 10.1515/cclm.1987.25.1.5. PMID: 3559484

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