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Descriptor English: Donohue Syndrome
Descriptor Spanish: Síndrome de Donohue
Descriptor Portuguese: Síndrome de Donohue
Descriptor French: Syndrome de Donohue
Entry term(s): 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(s): C05.660.207.325
C16.131.077.313
C16.320.215
C18.452.394.750.654
C19.246.537
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D056731
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Abnormalities, Multiple (2002-2009)
Acanthosis Nigricans (2002-2009)
Diabetes Mellitus (2000-2009)
Public MeSH Note: 2010
History Note: 2010
Related: Insulin Resistance MeSH
Receptor, Insulin MeSH
DeCS ID: 53496
Unique ID: D056731
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2012/07/03
Donohue Syndrome - Preferred
Concept UI M0528899
Scope note 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.
Preferred term Donohue Syndrome
Entry term(s) Leprechaunism
Leprechaunisms
Syndrome, Donohue
Rabson-Mendenhall Syndrome - Related but not broader or narrower
Concept UI M0528900
Scope note Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms.
Preferred term Rabson-Mendenhall Syndrome
Entry term(s) Mendenhall Syndrome
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Rabson Mendenhall Syndrome
Syndrome, Mendenhall
Syndrome, Rabson-Mendenhall



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