Alagille syndrome, the Glossary

Table of Contents

1. 65 relations: Acholia, Amino acid, Anterior chamber of eyeball, Autosome, Axenfeld–Rieger syndrome, Benzene, Bile, Bile duct, Biliary atresia, Cardiology, Cholesterol, Chromosome, Cirrhosis, Colestyramine, Congenital vertebral anomaly, Daniel Alagille, Dominance (genetics), EUROCAT (medicine), European Journal of Human Genetics, Failure to thrive, Food and Drug Administration, Gastroenterology, Gastrostomy, Genetic code, Genetic disorder, Genetic testing, Heart, Heart murmur, Hepatocellular carcinoma, Hepatoportoenterostomy, Human eye, Itch, JAG1, Jaundice, Kidney, Lipid metabolism, Lipid storage disorder, Liver, Liver biopsy, Liver failure, Liver transplantation, Malabsorption, Maralixibat chloride, Massive parallel sequencing, Medical genetics, Missense mutation, Multicystic dysplastic kidney, Multiplex ligation-dependent probe amplification, Notch 2, Notch signaling pathway, ... Expand index (15 more) »

2. Accessory digestive gland disorders
3. Cardiogenetic disorders
4. Ciliopathy
5. Congenital disorders of digestive system
6. Disability
7. Syndromes affecting the hepatobiliary system
8. Syndromes with tumors

Acholia

Acholia or hypocholia is pallor of the feces, which lack their normal brown colour, as a result of impaired bile secretion into the bowel.

See Alagille syndrome and Acholia

Amino acid

Amino acids are organic compounds that contain both amino and carboxylic acid functional groups.

See Alagille syndrome and Amino acid

Anterior chamber of eyeball

The anterior chamber (AC) is the aqueous humor-filled space inside the eye between the iris and the cornea's innermost surface, the endothelium.

See Alagille syndrome and Anterior chamber of eyeball

Autosome

An autosome is any chromosome that is not a sex chromosome.

See Alagille syndrome and Autosome

Axenfeld–Rieger syndrome

Axenfeld–Rieger syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.

See Alagille syndrome and Axenfeld–Rieger syndrome

Benzene

Benzene is an organic chemical compound with the molecular formula C6H6. The benzene molecule is composed of six carbon atoms joined in a planar hexagonal ring with one hydrogen atom attached to each. Because it contains only carbon and hydrogen atoms, benzene is classed as a hydrocarbon. Benzene is a natural constituent of petroleum and is one of the elementary petrochemicals.

See Alagille syndrome and Benzene

Bile

Bile (from Latin bilis), or gall, is a yellow-green fluid produced by the liver of most vertebrates that aids the digestion of lipids in the small intestine. Alagille syndrome and bile are hepatology.

See Alagille syndrome and Bile

Bile duct

A bile duct is any of a number of long tube-like structures that carry bile, and is present in most vertebrates. Alagille syndrome and bile duct are hepatology.

See Alagille syndrome and Bile duct

Biliary atresia

Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. Alagille syndrome and Biliary atresia are congenital disorders of digestive system and hepatology.

See Alagille syndrome and Biliary atresia

Cardiology

Cardiology is the study of the heart.

See Alagille syndrome and Cardiology

Cholesterol

Cholesterol is the principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.

See Alagille syndrome and Cholesterol

Chromosome

A chromosome is a package of DNA with part or all of the genetic material of an organism.

See Alagille syndrome and Chromosome

Cirrhosis

Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, and end-stage liver disease, is a condition of the liver in which the normal functioning tissue, or parenchyma, is replaced with scar tissue (fibrosis) and regenerative nodules as a result of chronic liver disease.

See Alagille syndrome and Cirrhosis

Colestyramine

Colestyramine (INN) or cholestyramine (USAN) (trade names Questran, Questran Light, Cholybar, Olestyr) is a bile acid sequestrant, which binds bile in the gastrointestinal tract to prevent its reabsorption. Alagille syndrome and Colestyramine are hepatology.

See Alagille syndrome and Colestyramine

Congenital vertebral anomaly

Congenital vertebral anomalies are a collection of malformations of the spine.

See Alagille syndrome and Congenital vertebral anomaly

Daniel Alagille

Daniel Alagille (24 January 1925 – 8 November 2005) was a French physician who specialized in pediatric hepatology, the study of childhood liver diseases.

See Alagille syndrome and Daniel Alagille

Dominance (genetics)

In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome.

See Alagille syndrome and Dominance (genetics)

EUROCAT (medicine)

EUROCAT is a network of population-based congenital anomaly registries across Europe for the monitoring, surveillance and research of congenital anomalies.

See Alagille syndrome and EUROCAT (medicine)

European Journal of Human Genetics

The European Journal of Human Genetics is a monthly peer-reviewed scientific journal published by the Nature Publishing Group on behalf of the European Society of Human Genetics.

See Alagille syndrome and European Journal of Human Genetics

Failure to thrive

Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children.

See Alagille syndrome and Failure to thrive

Food and Drug Administration

The United States Food and Drug Administration (FDA or US FDA) is a federal agency of the Department of Health and Human Services.

See Alagille syndrome and Food and Drug Administration

Gastroenterology

Gastroenterology (from the Greek gastḗr- "belly", -énteron "intestine", and -logía "study of") is the branch of medicine focused on the digestive system and its disorders.

See Alagille syndrome and Gastroenterology

Gastrostomy

A gastrostomy is the creation of an artificial external opening into the stomach for nutritional support or gastric decompression.

See Alagille syndrome and Gastrostomy

Genetic code

The genetic code is the set of rules used by living cells to translate information encoded within genetic material (DNA or RNA sequences of nucleotide triplets, or codons) into proteins.

See Alagille syndrome and Genetic code

Genetic disorder

A genetic disorder is a health problem caused by one or more abnormalities in the genome.

See Alagille syndrome and Genetic disorder

Genetic testing

Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure.

See Alagille syndrome and Genetic testing

Heart

The heart is a muscular organ found in most animals.

See Alagille syndrome and Heart

Heart murmur

Heart murmurs are unique heart sounds produced when blood flows across a heart valve or blood vessel.

See Alagille syndrome and Heart murmur

Hepatocellular carcinoma

Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. Alagille syndrome and Hepatocellular carcinoma are hepatology.

See Alagille syndrome and Hepatocellular carcinoma

Hepatoportoenterostomy

A hepatoportoenterostomy or Kasai portoenterostomy is a surgical treatment performed on infants with Type IVb choledochal cyst and biliary atresia to allow for bile drainage. Alagille syndrome and hepatoportoenterostomy are hepatology.

See Alagille syndrome and Hepatoportoenterostomy

Human eye

The human eye is an organ of the sensory nervous system that reacts to visible light and allows the use of visual information for various purposes including seeing things, keeping balance, and maintaining circadian rhythm.

See Alagille syndrome and Human eye

Itch

An itch (also known as pruritus) is a sensation that causes a strong desire or reflex to scratch.

See Alagille syndrome and Itch

JAG1

Jagged1 (JAG1) is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway.

See Alagille syndrome and JAG1

Jaundice

Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels.

See Alagille syndrome and Jaundice

Kidney

In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation.

See Alagille syndrome and Kidney

Lipid metabolism is the synthesis and degradation of lipids in cells, involving the breakdown and storage of fats for energy and the synthesis of structural and functional lipids, such as those involved in the construction of cell membranes.

See Alagille syndrome and Lipid metabolism

Lipid storage disorder

A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in some body cells and tissues.

See Alagille syndrome and Lipid storage disorder

Liver

The liver is a major metabolic organ exclusively found in vertebrate animals, which performs many essential biological functions such as detoxification of the organism, and the synthesis of proteins and various other biochemicals necessary for digestion and growth.

See Alagille syndrome and Liver

Liver biopsy

Liver biopsy is the biopsy (removal of a small sample of tissue) from the liver. Alagille syndrome and liver biopsy are hepatology.

See Alagille syndrome and Liver biopsy

Liver failure

Liver failure is the inability of the liver to perform its normal synthetic and metabolic functions as part of normal physiology.

See Alagille syndrome and Liver failure

Liver transplantation

Liver transplantation or hepatic transplantation is the replacement of a diseased liver with the healthy liver from another person (allograft). Alagille syndrome and liver transplantation are hepatology.

See Alagille syndrome and Liver transplantation

Malabsorption

Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract.

See Alagille syndrome and Malabsorption

Maralixibat chloride

Maralixibat chloride, sold under the brand name Livmarli, is a medication used to treat cholestatic pruritus in people with Alagille syndrome.

See Alagille syndrome and Maralixibat chloride

Massive parallel sequencing

Massive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation sequencing.

See Alagille syndrome and Massive parallel sequencing

Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

See Alagille syndrome and Medical genetics

Missense mutation

In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.

See Alagille syndrome and Missense mutation

Multicystic dysplastic kidney

Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development.

See Alagille syndrome and Multicystic dysplastic kidney

Multiplex ligation-dependent probe amplification

Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair.

See Alagille syndrome and Multiplex ligation-dependent probe amplification

Notch 2

Neurogenic locus notch homolog protein 2 (Notch 2) is a protein that in humans is encoded by the NOTCH2 gene.

See Alagille syndrome and Notch 2

Notch signaling pathway

The Notch signaling pathway is a highly conserved cell signaling system present in most animals.

See Alagille syndrome and Notch signaling pathway

Nucleotide

Nucleotides are organic molecules composed of a nitrogenous base, a pentose sugar and a phosphate.

See Alagille syndrome and Nucleotide

Organ transplantation

Organ transplantation is a medical procedure in which an organ is removed from one body and placed in the body of a recipient, to replace a damaged or missing organ.

See Alagille syndrome and Organ transplantation

Point mutation

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome.

See Alagille syndrome and Point mutation

Primary biliary cholangitis

Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. Alagille syndrome and primary biliary cholangitis are hepatology.

See Alagille syndrome and Primary biliary cholangitis

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. Alagille syndrome and Progressive familial intrahepatic cholestasis are hepatology.

See Alagille syndrome and Progressive familial intrahepatic cholestasis

Proximal tubule

The proximal tubule is the segment of the nephron in kidneys which begins from the renal pole of the Bowman's capsule to the beginning of loop of Henle.

See Alagille syndrome and Proximal tubule

Retina

The retina (or retinas) is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs.

See Alagille syndrome and Retina

Rifampicin

Rifampicin, also known as rifampin, is an ansamycin antibiotic used to treat several types of bacterial infections, including tuberculosis (TB), ''Mycobacterium avium'' complex, leprosy, and Legionnaires' disease.

See Alagille syndrome and Rifampicin

Sex chromosome

Sex chromosomes (also referred to as allosomes, heterotypical chromosome, gonosomes, heterochromosomes, or idiochromosomes) are chromosomes that carry the genes that determine the sex of an individual.

See Alagille syndrome and Sex chromosome

Single-nucleotide polymorphism

In genetics and bioinformatics, a single-nucleotide polymorphism (SNP; plural SNPs) is a germline substitution of a single nucleotide at a specific position in the genome.

See Alagille syndrome and Single-nucleotide polymorphism

Skin

Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation.

See Alagille syndrome and Skin

Stoma

In botany, a stoma (stomata, from Greek στόμα, "mouth"), also called a stomate (stomates), is a pore found in the epidermis of leaves, stems, and other organs, that controls the rate of gas exchange between the internal air spaces of the leaf and the atmosphere.

See Alagille syndrome and Stoma

Ursodeoxycholic acid

Ursodeoxycholic acid (UDCA), also known as ursodiol, is a secondary bile acid, produced in humans and most other species from metabolism by intestinal bacteria.

See Alagille syndrome and Ursodeoxycholic acid

Vitamin A

Vitamin A is a fat-soluble vitamin, hence an essential nutrient.

See Alagille syndrome and Vitamin A

Xanthoma

A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. Alagille syndrome and xanthoma are hepatology.

See Alagille syndrome and Xanthoma

See also

Accessory digestive gland disorders

• Alagille syndrome
• Biliary fever
• Dubin–Johnson syndrome
• Gilbert's syndrome
• Hyperbilirubinemia in adults
• Portal hypertension

Cardiogenetic disorders

• Alagille syndrome
• Andersen–Tawil syndrome
• Brugada syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Dilated cardiomyopathy
• Fabry disease
• Familial atrial fibrillation
• Familial thoracic aortic aneurysm
• Hypertrophic cardiomyopathy
• Hypertrophic cardiomyopathy screening
• Left anterior fascicular block
• Left bundle branch block
• Long QT syndrome
• McLeod syndrome
• Parachute mitral valve
• Sakati–Nyhan–Tisdale syndrome
• Short QT syndrome
• Smith–Martin–Dodd syndrome
• Timothy syndrome
• Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Ciliopathy

• Acrocallosal syndrome
• Alagille syndrome
• Alström syndrome
• Asphyxiating thoracic dysplasia
• Autosomal recessive polycystic kidney disease
• Bardet–Biedl syndrome
• Caroli disease
• Ciliopathy
• Joubert syndrome
• McKusick–Kaufman syndrome
• Meckel–Gruber syndrome
• Orofaciodigital syndrome 1
• Polycystic kidney disease
• Primary ciliary dyskinesia
• Senior–Løken syndrome
• Strømme syndrome

Congenital disorders of digestive system

• Accessory pancreas
• Aglossia
• Alagille syndrome
• Annular pancreas
• Bile duct hamartoma
• Biliary atresia
• Caudal duplication
• Choledochal cysts
• Dolichocolon
• Duodenal atresia
• Enteric duplication cyst
• Esophageal atresia
• Esophageal inlet patch
• Esophageal web
• Familial cirrhosis
• Fundic gland polyposis
• Gastric atresia
• Gastroparesis
• Hereditary pancreatitis
• Hiatal hernia
• Hirschsprung's disease
• Hypoglossia
• Imperforate anus
• Intestinal atresia
• Intestinal malrotation
• Johanson–Blizzard syndrome
• Macroglossia
• Meckel's diverticulum
• Meckel–Gruber syndrome
• Neonatal bowel obstruction
• Pancreas divisum
• Pancreaticobiliary maljunction
• Pyloric stenosis
• Rectovestibular fistula
• Schatzki ring
• Tracheoesophageal fistula

Disability

• Accessibility
• Alagille syndrome
• Congenital rubella syndrome
• Conscription of people with disabilities
• Direct support professional
• Disability
• Disability abuse
• Disability and poverty
• Disability and religion
• Disability and sexuality
• Disability benefits
• Disability culture
• Disability etiquette
• Disability insurance
• Disability pretender
• Disability pride
• Disability rights
• Disability studies
• Family support
• Functional behavior assessment
• Future planning for disability care
• Impact of the COVID-19 pandemic on people with disabilities
• Impairment rating
• International Classification of Functioning, Disability and Health
• Mate crime
• Medical model of disability
• Mental health
• Mental health in education
• Myopia
• Old age
• Parasports
• Parents with disabilities
• People with disabilities
• Physical disability
• Reye syndrome
• Scheuern Foundation
• Social model of disability
• Social role valorization
• Special education
• Special needs dentistry
• Spinal Cord Independence Measure
• Spoon theory
• Stimming
• Supported living
• Violence against disabled people
• Violence against people with disabilities
• Vocational rehabilitation
• Youth and disability

Syndromes affecting the hepatobiliary system

• Aagenaes syndrome
• Acute HME syndrome
• Alagille syndrome
• Budd–Chiari syndrome
• Caroli disease
• Congenital portosystemic shunt
• Crigler–Najjar syndrome
• Dubin–Johnson syndrome
• HELLP syndrome
• Hepatorenal syndrome
• Katz syndrome
• Mirizzi's syndrome
• Portosystemic shunts in animals
• Tricho-hepato-enteric syndrome

Syndromes with tumors

• 2q37 deletion syndrome
• Aicardi syndrome
• Alagille syndrome
• Alport syndrome
• Androgen insensitivity syndrome
• Ataxia–telangiectasia
• Ataxia-pancytopenia syndrome
• Autoimmune lymphoproliferative syndrome
• Bannayan–Riley–Ruvalcaba syndrome
• Bazex–Dupré–Christol syndrome
• Beckwith–Wiedemann syndrome
• Birt–Hogg–Dubé syndrome
• Bloom syndrome
• Blue rubber bleb nevus syndrome
• Carney complex
• Caroli disease
• Denys–Drash syndrome
• Diencephalic syndrome
• Foster Kennedy syndrome
• Gardner's syndrome
• Goldenhar syndrome
• Hereditary cancer syndrome
• Hereditary nonpolyposis colorectal cancer
• Li–Fraumeni syndrome
• Maffucci syndrome
• Meigs's syndrome
• Mismatch repair cancer syndrome
• Nevoid basal-cell carcinoma syndrome
• Nijmegen breakage syndrome
• Perlman syndrome
• Proteus syndrome
• Serrated polyposis syndrome
• Thymoma with immunodeficiency

References

[1] https://en.wikipedia.org/wiki/Alagille_syndrome

Also known as Alagille, Alagille's syndrome, Alagille-Watson syndrome (AWS), Hepatic ductular hypoplasia, Hypoplasia hepatic ductular.

, Nucleotide, Organ transplantation, Point mutation, Primary biliary cholangitis, Progressive familial intrahepatic cholestasis, Proximal tubule, Retina, Rifampicin, Sex chromosome, Single-nucleotide polymorphism, Skin, Stoma, Ursodeoxycholic acid, Vitamin A, Xanthoma.