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ALSTROM SYNDROME
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DeCS
Descriptor
English
:
Alstrom Syndrome
Descriptor
Spanish
:
Síndrome de Alstrom
Descriptor
Portuguese
:
Síndrome de Alstrom
Synonyms
English
:
Alstrom Hallgren Syndrome
Alstrom's Syndrome
Alstrom-Hallgren Syndrome
Alstroms Syndrome
Alström Syndrome
Syndrome, Alstrom
Syndrome, Alstrom's
Syndrome, Alstrom-Hallgren
Syndrome, Alström
Tree Number:
C10.500.300.099
C10.574.500.495.099
C10.668.829.800.300.099
C11.270.684.249
C16.131.077.245.063
C16.131.666.300.099
C16.320.184.063
C16.320.290.684.249
C16.320.400.375.099
Definition
English
:
Rare autosomal recessive
disease
characterized by multiple organ dysfunction. The key clinical features include
retinal degeneration
(NYSTAGMUS, PATHOLOGIC;
RETINITIS PIGMENTOSA
; and eventual
blindness
), childhood
obesity
, sensorineural
hearing loss
, and normal mental development. Endocrinologic complications include TYPE 2
DIABETES MELLITUS
; HYPERINSULINEMIA;
ACANTHOSIS NIGRICANS
;
HYPOTHYROIDISM
; and progressive renal and hepatic failures. The
disease
is caused by
mutations
in the ALMS1 gene.
History Note
English
:
2010
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
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
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Record Number:
53515
Unique Identifier:
D056769
Occurrence in VHL
:
Similar:
DeCS