Porphyria, congenital erythropoietic

Preferred Label : Porphyria, congenital erythropoietic;

Symbol : CEP;

CISMeF acronym : CEP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Uroporphyrinogen III synthase deficiency; Gunther disease; Uros deficiency;

Description : The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000). Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment. One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene (305371.0010) that affected UROS expression (see XLTT, 314050).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the uroporphyrinogen III cosynthase gene (UROS, 606938.0001);

Laboratory abnormalities : Uroporphyrinogen III cosynthase (URO cosynthase) deficiency in blood and fibroblasts; Uroporphyrin I and coproporphyrin I are found in plasma, red blood cells, urine, and feces; Pink urine;

Prefixed ID : #263700;

Details

Origin ID

263700;

UMLS CUI

C5886774;

Automatic exact mappings (from CISMeF team)
- dextransucrase activity [GO term]
- porphyria, acute intermittent [MeSH Descriptor]
- uroporphyrinogen III synthase [ORDO Gene]
- uroporphyrinogen III synthase [HGNC gene]
Currated CISMeF NLP mapping
- Congenital erythropoietic porphyria [ICD-11 More detail]
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- congenital erythropoietic porphyria [SNOMED Notion]
- deficiency of uroporphyrinogen III synthase [MeSH concept]
- porphyria, erythropoietic [MeSH Descriptor]
- porphyria, erythropoietic [MeSH concept]
DO Cross reference
- cutaneous porphyria [DO Concept]
False automatic mappings
- Endothelial Progenitor Cell [NCIt concept]
Genes related to phenotype
- Uroporphyrinogen III synthase [OMIM gene]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Absent eyebrow [HPO term]
- Alopecia [HPO term]
- Atypical scarring of skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholelithiasis [HPO term]
- Congenital onset [HPO term]
- Conjunctivitis [HPO term]
- Corneal scarring [HPO term]
- Cutaneous photosensitivity [HPO term]
- Erythrodontia [HPO term]
- Hemolytic anemia [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertrichosis [HPO term]
- Hypopigmentation of the skin [HPO term]
- Joint contracture of the hand [HPO term]
- Loss of eyelashes [HPO term]
- Osteolysis [HPO term]
- Osteopenia [HPO term]
- Pathologic fracture [HPO term]
- Pink urine [HPO term]
- Pseudoscleroderma [HPO term]
- Scleroderma [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Thickened skin [HPO term]
- Thrombocytopenia [HPO term]
- Vertebral compression fracture [HPO term]
ORDO concept(s)
- Congenital erythropoietic porphyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria [ICD-11 More detail]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Congenital porphyria (disorder) [SNOMED CT concept]
- Erythropoietic Porphyria [NCIt concept]
- Erythropoietic porphyria [MedDRA LLT]
- Erythropoietic porphyria [PASCAL descriptor]
- Erythropoietic porphyria (disorder) [SNOMED CT concept]
- Erythropoietic porphyrias [ICD-11 Sub-sub category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- congenital erythropoietic porphyria [SNOMED Notion]
- cutaneous porphyria [DO Concept]
- erythropoietic porphyria [Disease (Nov.)]
- erythropoietic porphyria, nos [SNOMED Notion]
- porphyria, erythropoietic [MeSH Descriptor]
- porphyria, erythropoietic [MeSH concept]
Validated automatic mappings to NTBT
- erythropoietic porphyria [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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