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UROPORPHYRINOGEN III SYNTHASE, DEFICIENCY OF
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DeCS
Descriptor
English
:
Porphyria, Erythropoietic
Descriptor
Spanish
:
Porfiria Eritropoyética
Descriptor
Portuguese
:
Porfiria Eritropoética
Synonyms
English
:
Deficiency of Uroporphyrinogen III Synthase
Erythropoietic Porphyria
Gunther's Disease
Porphyria, Erythropoietic, Congenital
Uroporphyrinogen III Synthase, Deficiency of
Tree Number:
C16.320.565.708.250
C16.320.850.738
C17.800.827.738
C17.800.849.617.250
C18.452.648.708.250
C18.452.811.250
C18.452.880.617.250
Definition
English
:
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
:
do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
See Related
English
:
Uroporphyrinogen III Synthetase
History Note
English
:
1993
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
30606
Unique Identifier:
D017092
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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