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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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Deficiency of Uroporphyrinogen III Synthase
Erythropoietic Porphyria
Gunther's Disease
Porphyria, Erythropoietic, Congenital
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. |
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 CID-10 SciELO LILACS LIS
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