| Descriptor English: | Donohue Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Donohue
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| 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 |
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| Tree number(s): |
C05.660.207.325 C16.131.077.313 C16.320.215 C18.452.394.750.654 C19.246.537 |
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| 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. |
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| 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 |
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| Previous Indexing: |
Abnormalities, Multiple (2002-2009) Acanthosis Nigricans (2002-2009) Diabetes Mellitus (2000-2009) |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| 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 |
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Donohue Syndrome
- Preferred
Rabson-Mendenhall Syndrome
- Related but not broader or narrower
| 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 |
| 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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