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Alagille's Syndrome (ALGS) (OMIM #118450)
Autosomal dominant disorder owing to mutations in Jag1 gene. Jag1 codes for Notch receptor ligand.
Two versions - ALGS1 and ALGS2, ALGS2 formed by mutations in Notch2.
Jag1 mutations in ALGS include gene deletions and protein truncation, splicing, and missense mutations, suggesting that haploinsufficiency is the mechanism of disease causation.
Further background from Gene Tests Alagille Syndrome at Gene Tests
Key Features (Watson and Miller, 1973 PubMedID: 4712776; Alagille et al., 1975, PubMedMID: 803282; Rosenfield et al., 1980, PubMedID: 6779528
- Eye
- posterior embryotoxon, retinal pigmentary changes
- Heart
- pulmonic valvular stenosis, peripheral arterial stenosis
- Bones
- abnormal vertebrae, decreased interpediculate distance in lumbar spine
- Nervous System
- absent deep tendon reflexes, poor school performance
- Facies
- broad forehead, pointed mandible, bulbos tip of nose and fingers
Although the major clincal features of Alagille's Syndrome occur in tissues other than the kidney, links between the disease and the renal system have been described.
Martin, S. R.; Garel, L.; Alvarez, F. :
Alagille's syndrome associated with cystic renal disease. Arch. Dis. Child. 74: 232-235, 1996.
PubMed ID : 8787429
Features such as renal artery stenosis, renal displasia, renal mesangiolipidosis, glomerulosclerosis, hydrohephrois and chronic hypertension have all been described.
Images of the disease are available via the following external links
Geneva Foundation for Medical Education and Research (link to original image)
Dept. of Dermatology - University of Iowa College of Medicine (link to original image)