Alagille Syndrome Genereviews Ncbi Bookshelf

Alagille Syndrome - GeneReviews® - NCBI Bookshelf.

May 19, 2000 . Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic ....

https://www.ncbi.nlm.nih.gov/books/NBK1273/.

GeneReviews® - NCBI Bookshelf.

Dec 12, 2003 . GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific ....

https://www.ncbi.nlm.nih.gov/books/NBK1116/.

22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf.

Sep 23, 1999 . Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), ....

https://www.ncbi.nlm.nih.gov/books/NBK1523/.

CHD7 Disorder - GeneReviews® - NCBI Bookshelf.

Oct 02, 2006 . CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and ....

https://www.ncbi.nlm.nih.gov/books/NBK1117/.

Alpha-1 Antitrypsin Deficiency - GeneReviews® - NCBI Bookshelf.

Oct 27, 2006 . Alpha-1 antitrypsin deficiency (AATD) can present with hepatic dysfunction in individuals from infancy to adulthood and with chronic obstructive lung disease (emphysema and/or bronchiectasis), characteristically in individuals older than age 30 years. Individuals with AATD are also at increased risk for panniculitis (migratory, inflammatory, tender skin nodules ....

https://www.ncbi.nlm.nih.gov/books/NBK1519/.

Classic Galactosemia and Clinical Variant Galactosemia - NCBI Bookshelf.

Feb 04, 2000 . Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are ....

https://www.ncbi.nlm.nih.gov/books/NBK1518/.

Pancreatitis Overview - GeneReviews® - NCBI Bookshelf.

Mar 13, 2014 . NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. ... Alagille syndrome: JAG1 NOTCH2: AD: Cholestasis. Congenital heart defects. ... GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder ....

https://www.ncbi.nlm.nih.gov/books/NBK190101/.

Official Health Care Professional Site | understand ALGS.

What Is ALGS?. Alagille syndrome (ALGS) is a rare, life-threatening multisystem disease that often presents in childhood. 2 With ALGS, bile ducts are abnormally narrow, malformed, and reduced in number, which leads to toxic accumulation of bile acids in the liver and, ultimately, progressive liver disease. 1,3.

https://knowcholestaticliverdisease.com/algs/understanding-algs/.

GeneReviews ® [Internet] - PubMed.

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.Each chapter in GeneReviews is written by one or more experts on the specific ....

https://pubmed.ncbi.nlm.nih.gov/20301295/.