Alagille syndrome

Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that affects the liver, heart, kidney, and other systems of the body.wikipedia
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Liver

hepaticliver protein synthesislivers
Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that affects the liver, heart, kidney, and other systems of the body.
There are also many pediatric liver diseases, including biliary atresia, alpha-1 antitrypsin deficiency, alagille syndrome, progressive familial intrahepatic cholestasis, Langerhans cell histiocytosis and hepatic hemangioma a benign tumour the most common type of liver tumour, thought to be congenital.

Daniel Alagille

It is named for Daniel Alagille.
Alagille syndrome is named for him as he had first described the condition in 1969.

JAG1

Jagged1CD339Jagged-1
ALGS is caused by loss of function mutations in either JAG1 or NOTCH2.
Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene.

Notch 2

NOTCH2
ALGS is caused by loss of function mutations in either JAG1 or NOTCH2.
NOTCH2 is associated with Alagille syndrome and Hajdu–Cheney syndrome.

Notch signaling pathway

NotchNotch signalingNotch receptor
JAG1 encodes a ligand critical to the notch gene–signaling cascade that is important in fetal development.
Notch signaling is dysregulated in many cancers, and faulty notch signaling is implicated in many diseases including T-ALL (T-cell acute lymphoblastic leukemia), CADASIL (Cerebral Autosomal-Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy), Multiple Sclerosis (MS), Tetralogy of Fallot, Alagille syndrome, and many other disease states.

Biliary atresia

Atresia of bile ductsCongenital Biliary Atresia
A liver biopsy may indicate too few bile ducts (bile duct paucity) or, in some cases, the complete absence of bile ducts (biliary atresia).
The differential diagnoses are extensive and include: Alagille syndrome, alpha-1-antitrypsin deficiency, Byler disease (progressive familial intrahepatic cholestasis), Caroli disease, choledochal cyst, cholestasis, congenital cytomegalovirus disease, congenital herpes simplex virus infection, congenital rubella, congenital syphilis, congenital toxoplasmosis, cystic fibrosis, galactosemia, idiopathic neonatal hepatitis, lipid storage disorders, neonatal hemochromatosis, and total parenteral nutrition-associated cholestasis.

Heart

cardiachuman heartapex of the heart
Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that affects the liver, heart, kidney, and other systems of the body.

Kidney

kidneysrenalrenal circulation
Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that affects the liver, heart, kidney, and other systems of the body.

Dominance (genetics)

autosomal recessiveautosomal dominantrecessive
The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 100,000 live births.

Organ transplantation

organ transplanttransplanttransplantation
The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.

Skin

cutaneousskin cellanimal skin
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas).

Jaundice

icterusyellowish skincholestatic jaundice
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas).

Itch

itchingpruritusitchiness
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas).

Acholia

Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas).

Cholesterol

serum cholesteroldietary cholesterolcholesterol level
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas).

Xanthoma

xanthomatosisxanthomasdeposits of fat
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas).

Liver biopsy

Liver biopsiesbiopsies of the liverbiopsy of liver
A liver biopsy may indicate too few bile ducts (bile duct paucity) or, in some cases, the complete absence of bile ducts (biliary atresia).

Bile duct

biliarybile ductsbiliary duct
A liver biopsy may indicate too few bile ducts (bile duct paucity) or, in some cases, the complete absence of bile ducts (biliary atresia).

Hepatocellular carcinoma

liver cancerhepatic cancerliver
Hepatocellular cancer has been reported in a number of cases.

Medical sign

signsclinical signsign
Other signs of Alagille syndrome include congenital heart problems varying from heart murmurs (from pulmonary artery stenosis) to significant structural abnormalities, such as Tetralogy of Fallot.

Tetralogy of Fallot

Fallot's TetralogyFallot’s Tetralogytetralogy/pentalogy of Fallot
Other signs of Alagille syndrome include congenital heart problems varying from heart murmurs (from pulmonary artery stenosis) to significant structural abnormalities, such as Tetralogy of Fallot.

Overriding aorta

Pulmonary stenosis is common amongst Alagille patients and other defects; overriding aorta; ventricular septal defect; and right ventricular hypertrophy.

Ventricular septal defect

hole in the heartVSDventricular
Pulmonary stenosis is common amongst Alagille patients and other defects; overriding aorta; ventricular septal defect; and right ventricular hypertrophy.

Right ventricular hypertrophy

hypertrophyrightright heart hypertrophy
Pulmonary stenosis is common amongst Alagille patients and other defects; overriding aorta; ventricular septal defect; and right ventricular hypertrophy.

X-ray

x-rayssoft x-rayx rays
Other presentations of Alagille's syndrome include an unusual butterfly shape of one or more of the bones of the spinal column (visible on an x-ray), certain eye defects (such as posterior embryotoxon and pigmentary retinopathy), and narrowed pulmonary arteries that can contribute to increased pressure on the right heart valves.