Search on: LEPRECHAUNISM 
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Descriptor English:   Donohue Syndrome 
Descriptor Spanish:   Síndrome de Donohue 
Descriptor Portuguese:   Síndrome de Donohue 
Synonyms English:   Leprechaunism
Leprechaunisms
Mendenhall Syndrome
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Rabson Mendenhall Syndrome
Rabson-Mendenhall Syndrome
Syndrome, Donohue
Syndrome, Mendenhall
Syndrome, Rabson-Mendenhall  
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
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:   53496 
Unique Identifier:   D056731 

Occurrence in VHL: 		 

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DeCS