Donohue syndrome (Leprechaunism) is an autosomal recessive disorder caused by a loss-of-function mutations in the insulin receptor gene. The clinical picture includes intra-uterine and postnatal growth restriction, lipo-atrophy, characteristic facial features, acanthosis nigricans, abnormal glucose homeostasis and severe insulin resistance.
Acanthosis nigricans | |
Insulin resistance in leprechaunism is accompanied by acanthosis nigricans. |
1. |
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5. |
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6. |
Kaplowitz PB et al. (1982) Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C. |
7. |
None (1965) Metabolic and chromosomal studies in leprechaunism. |
8. |
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9. |
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10. |
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11. |
Elsas LJ et al. (1985) Leprechaunism: an inherited defect in a high-affinity insulin receptor. |
12. |
Endo F et al. (1987) Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism. |
13. |
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14. |
Geffner ME et al. (1987) Leprechaunism: in vitro insulin action despite genetic insulin resistance. |
16. |
Schilling EE et al. (1979) Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance. |
17. |
Reddy SS et al. (1989) Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome. |
18. |
Kobayashi M et al. (1978) Insulin resistance due to a defect distal to the insulin receptor: demonstration in a patient with leprechaunism. |
19. |
Reddy SS et al. (1989) Molecular defects in the insulin receptor in patients with leprechaunism and in their parents. |
20. |
CLARK DR et al. (1948) Dysendocrinism. |
21. |
PATTERSON JH et al. (1962) Leprechaunism in a male infant. |
22. |
SALMON MA et al. (1963) DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT. |
23. |
LAKATOS I et al. (1963) [Leprechaunism (Donohue syndrome)]. |
24. |
None (1955) Leprechaunism. |
25. |
DONOHUE WL et al. (1954) Leprechaunism: a euphemism for a rare familial disorder. |
26. |
Hone J et al. (1994) Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. |
27. |
OMIM.ORG article Omim 246200 |
28. |
Orphanet article Orphanet ID 508 |
29. |
Wikipedia article Wikipedia EN (Donohue_syndrome) |