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DONOHUE SYNDROME
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DeCS
Descriptor
English
:
Donohue Syndrome
Descriptor
Spanish
:
Síndrome de Donohue
Descriptor
Portuguese
:
Síndrome de Donohue
Synonyms
English
:
Leprechaunism
Mendenhall Syndrome
Rabson-Mendenhall Syndrome
Tree Number:
C05.660.207.325
C16.131.077.313
C16.320.215
C18.452.394.750.654
C19.246.537
Definition
English
:
Rare autosomal recessive
syndrome
of extreme
insulin resistance
due to mutations in the binding domain of
INSULIN
RECEPTOR. Clinical features include severe intrauterine and postnatal
growth
restriction, characteristic dysmorphic
FACIES
;
HIRSUTISM
; VIRILIZATION; multiple endocrine abnormalities, and early death.
See Related
English
:
Insulin Resistance
Receptor, Insulin
History Note
English
:
2010
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:
53496
Unique Identifier:
D056731
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS