Structured Summary
Abstract
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.
MeSH Record
Classification
Broader headings
Related Concepts
Knowledge Graph
Drag nodes to rearrange; hover to trace links; click a node to open its page.
MeSH Record
See Also
MeSH Record
Synonyms
16 entry terms
- Congenital Erythropoietic Porphyria
- Gunther Disease
- Gunther's Disease
- Porphyria, Congenital Erythropoietic
- Porphyria, Erythropoietic
- Porphyria, Erythropoietic, Congenital
- Congenital Erythropoietic Porphyrias
- Erythropoietic Porphyria, Congenital
- Erythropoietic Porphyrias
- Erythropoietic Porphyrias, Congenital
- Gunthers Disease
- Porphyrias, Congenital Erythropoietic
- Porphyrias, Erythropoietic
- Deficiency of Uroporphyrinogen III Synthase
- UROS Deficiency
- Uroporphyrinogen III Synthase, Deficiency of
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
MeSH Record
History Note
1993
MeSH Record
Previous Indexing
- Porphyria (1966-1992)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Erythropoietic Porphyria. Medical Subject Headings (MeSH). 2026. Unique ID D017092. http://id.nlm.nih.gov/mesh/2026/D017092
- Erythropoietic Porphyria. In: Wikipedia. https://en.wikipedia.org/wiki/Gunther_disease
- Erythropoietic Porphyria. In: Wikidata. https://www.wikidata.org/wiki/Q1759389