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Alagille syndrome 2(ALGS2)

MedGen UID:
341844
Concept ID:
C1857761
Disease or Syndrome
Synonyms: ALGS2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: NOTCH2
Cytogenetic location: 1p12
OMIM: 610205

Disease characteristics

Excerpted from the GeneReview: Alagille Syndrome
Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Nancy B Spinner  |  Laura D Leonard  |  Ian D Krantz   view full author information

Clinical features

Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Renal tubular acidosis
MedGen UID:
505019
Concept ID:
CN001761
Finding
Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
Cholestasis
MedGen UID:
504828
Concept ID:
CN001277
Finding
Impairment of bile flow due to obstruction in bile ducts.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the `interatrial septum` (FMA:7108) that enables blood flow between the left and right atria via the interatrial septum.
Renal tubular acidosis
MedGen UID:
505019
Concept ID:
CN001761
Finding
Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Diagnosis

Shen YM, Wu JF, Hsu HY, Ni YH, Chang MH, Liu YW, Lai HS, Hsu WM, Weng HL, Chen HL
J Pediatr Gastroenterol Nutr 2012 Nov;55(5):587-91. doi: 10.1097/MPG.0b013e31825c9732. PMID: 22595974

Therapy

Shen YM, Wu JF, Hsu HY, Ni YH, Chang MH, Liu YW, Lai HS, Hsu WM, Weng HL, Chen HL
J Pediatr Gastroenterol Nutr 2012 Nov;55(5):587-91. doi: 10.1097/MPG.0b013e31825c9732. PMID: 22595974

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