Porphyria, Erythropoietic [erytropoetická porfyrie]
- Terms
-
CEP
dědičný defekt uroporfyrinogen-III-synthasy
defIcit uroporfyrinogen-III-syntázy
Guntherova choroba
Güntherova choroba
Güntherova nemoc
kongenitální erytropoetická porfyrie
porfyrie erytropoetická
porfyrie kongenitální erytropoetická
-
Congenital Erythropoietic Porphyria
Deficiency of Uroporphyrinogen III Synthase
Erythropoietic Porphyria
Gunther Disease
Gunther's Disease
Porphyria, Congenital Erythropoietic
Porphyria, Erythropoietic, Congenital
Uroporphyrinogen III Synthase, Deficiency of
UROS Deficiency
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.
- Annotation
- do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
- DUI
- D017092 MeSH Browser
- CUI
- M0025969
- Previous indexing
- Porphyria (1966-1992)
- History note
- 1993
- Public note
- 1993
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 6
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology 1
- EH
- ethnology
- ET
- etiology 1
- GE
- genetics 1
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 4
- UR
- urine
- VE
- veterinary
- VI
- virology