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GTR Home > Conditions/Phenotypes > Cutaneous porphyria

Cutaneous porphyria

Synonyms
Congenital erythropoietic porphyria; Congenital porphyria; GUNTHER DISEASE; Günther disease; Porphyria, Erythropoietic; UROPORPHYRINOGEN III SYNTHASE DEFICIENCY; Uroporphyrinogen III synthase, deficiency of
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Congenital Erythropoietic Porphyria
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Angelika Erwin
Manisha Balwani
Robert J Desnick
view full author information

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: UROIIIS, UROS
    Summary: uroporphyrinogen III synthase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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