Visão selecionada em Inglês
Descritor em português: | Síndrome de Donohue | ||||||
Descritor em inglês: | Donohue Syndrome | ||||||
Descritor em espanhol: |
Síndrome de Donohue
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Descritor em francês: | Syndrome de Donohue | ||||||
Termo(s) alternativo(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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Código(s) hierárquico(s): |
C05.660.207.325 C16.131.077.313 C16.320.215 C18.452.394.750.654 C19.246.537 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D056731 | ||||||
Nota de escopo: | 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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Qualificadores permitidos: |
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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Indexação Anterior: |
Abnormalities, Multiple (2002-2009) Acanthosis Nigricans (2002-2009) Diabetes Mellitus (2000-2009) |
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Nota MeSH pública: | 2010 |
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Nota histórica: | 2010 |
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Veja também os descritores: |
Insulin Resistance
MeSH Receptor, Insulin MeSH | ||||||
Identificador DeCS: | 53496 | ||||||
ID do descritor: | D056731 | ||||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
Data de estabelecimento: | 01/01/2010 | ||||||
Data de entrada: | 06/07/2009 | ||||||
Data de revisão: | 03/07/2012 |
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Donohue Syndrome
- Conceito preferido
Rabson-Mendenhall Syndrome
- Relacionado, mas não mais amplo ou mais específico
Identificador do conceito |
M0528899 |
Nota de escopo | 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. |
Termo preferido | Donohue Syndrome |
Termo(s) alternativo(s) |
Leprechaunism Leprechaunisms Syndrome, Donohue |
Identificador do conceito |
M0528900 |
Nota de escopo | 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. |
Termo preferido | Rabson-Mendenhall Syndrome |
Termo(s) alternativo(s) |
Mendenhall Syndrome Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities Rabson Mendenhall Syndrome Syndrome, Mendenhall Syndrome, Rabson-Mendenhall |
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