Thelansis

 Alagille syndrome (ALGS), identified by OMIM 118450, is an autosomal dominant disorder linked to Notch signaling pathway abnormalities. It affects various systems, including the liver, heart, skeleton, eyes, kidneys, and central nervous system, often exhibiting distinct facial features. Most cases (about 97%) stem from JAG1 gene haploinsufficiency on 20p11.2-20p12 (encoding JAGGED1), caused primarily by mutations or deletions. A smaller fraction (<1%) arises from NOTCH2 mutations, which may lead to more frequent renal malformations. New mutations (approximately 60%) are common, and germline mosaicism rates are relatively high. Key clinical features of ALGS encompass bile duct paucity in liver biopsy, cholestasis, congenital heart defects (mainly pulmonary artery involvement), butterfly vertebrae, ophthalmic anomalies (most commonly posterior embryotoxon), and distinct facial characteristics. Additional manifestations may include renal irregularities, growth failure, development...

  Alagille syndrome (ALGS) is a rare genetic disorder that can affect multiple body organ systems, including the heart, eyes, skeleton, liver, and kidneys. Alagille syndrome symptoms and severity can vary from person to person, even within the same family. Some people may have a mild form of the disorder that goes unnoticed; others may have a severe form of the disorder that can potentially cause life-threatening complications. Individuals with Alagille syndrome may experience jaundice and cholestasis during their first four months of life. Alagille syndrome incidence has been estimated to be 2 to 3 cases in every 100,000 population. Thelansis’s “Alagille Syndrome (ALGS) Market Outlook, Epidemiology, Competitive Landscape , and Market Forecast Report – 2021 To 2032" covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share, market uptake, market forecast, and key ma...