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DeCS
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Descriptor English:
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Porphyria, Erythropoietic
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Descriptor Spanish:
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porfiria eritropoyética
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Descriptor Portuguese:
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Porfiria Eritropoética
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Synonyms English:
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Congenital Erythropoietic Porphyria
Congenital Erythropoietic Porphyrias
Deficiency of Uroporphyrinogen III Synthase
Erythropoietic Porphyria
Erythropoietic Porphyria, Congenital
Erythropoietic Porphyrias
Erythropoietic Porphyrias, Congenital
Gunther Disease
Gunther's Disease
Gunthers Disease
Porphyria, Congenital Erythropoietic
Porphyria, Erythropoietic, Congenital
Porphyrias, Congenital Erythropoietic
Porphyrias, Erythropoietic
UROS Deficiency
Uroporphyrinogen III Synthase, Deficiency of
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Tree Number:
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C16.320.850.738
C17.800.827.738
C18.452.811.250
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Definition English:
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An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. |
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Indexing Annotation English:
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do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
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See Related English:
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Uroporphyrinogen III Synthetase
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History Note English:
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1993
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Allowable Qualifiers English:
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Record Number:
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30606
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Unique Identifier:
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D017092
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Occurrence in VHL:
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Similar:
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DeCS
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