Number of the records: 1  

Alagillov syndróm

  1. Record numberd016738
    Date06.06.2025
    TypeM - MESH
    Topical termAlagillov syndróm
    Other termEnglish (Pseudonym) Arteriohepatic Dysplasia
    English (Pseudonym) Dysplasia, Arteriohepatic
    Slovak (Pseudonym) Alagilleho syndróm
    Slovak (Pseudonym) Alagilleov syndróm
    Slovak (Pseudonym) dysplázia hepatálnych artérií
    Slovak (Pseudonym) dysplázia artériohepatálna
    UDCC06.130.120.135.250.125C06.552.150.125C14.240.400.044C16.131.077.065C16.131.240.400.044C16.320.051
    NoteA multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
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Number of the records: 1  

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