Global Liver Institute




Icon Overview Whitebg1

Rare Liver Diseases Month Overview

Call To Action White Icon


Online Video White Icon


Resources White Icon


Icon Overview Red Bg

Rare Liver Diseases Month Overview

Rare Liver Diseases

Global Liver Institute has curated this collection of rare liver disease resources, including basic descriptions, facts, registries, and external organizations that provide detailed information and support.

Acid Sphingomyelinase Deficiency

Acid sphingomyelinase deficiency (ASMD) is a rare disease with many forms, including Niemann-Pick disease types A and B. ASMD can affect multiple organs, including the liver, lungs, spleen, blood, and digestive system.

Find support/learn more:

Acute Hepatic Porphyria

Acute hepatic porphyria (AHP) is a rare genetic and metabolic disease that involves deficiency of a liver enzyme that produces heme. AHP commonly causes painful neural attacks.

Find support/learn more:

Acute-on-Chronic Liver Failure

Acute-on-chronic liver failure is a syndrome affecting chronic liver disease patients in which thy experience a sudden, rapid (acute) deterioration of the liver.

Learn more:

Alagille Syndrome

Alagille syndrome is a rare genetic condition in which an individual has fewer small bile ducts than normal. Thus, bile accumulates in the liver, resulting in scarring and damage.

  • Alagille syndrome occurs in 1 in 30,000 births.

Find support/learn more:

Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is an inherited rare disease in which individuals have low levels of Alpha-1 antitrypsin (AAT) in their blood. AAT is an important protein produced in the liver that protects the lungs, liver & other organs from damage.

  • It’s estimated that 120,000 Americans have Alpha-1 Antitrypsin Deficiency, and only 6% have been diagnosed.

Find support/learn more:

Arginase 1 Deficiency

Arginase-1 Deficiency is a rare genetic disease in which the liver lacks arginase, an enzyme involved in the urea cycle and responsible for processing nitrogen–which can build up in the form of ammonia.

Find support/learn more:

ATTR Amyloidosis

ATTR amyloidosis is a rare disease in which transthyretin, a protein produced by the liver, becomes unstable and is misfolded. This results in clumping and abnormal accumulation of the protein, causing damage to the heart, nerves, and other organs.

Find support/learn more:

Autoimmune Hepatitis

Autoimmune hepatitis (AIH) is an inflammatory rare liver disease in which the immune system attacks healthy liver cells. AIH is often comorbid with other liver conditions, for instance non-alcoholic fatty liver disease (NAFLD), primary sclerosing cholangitis (PSC), and primary biliary cholangitis (PBC).

  • Though the number of new cases per year is 1-2 per 100,000, this incidence rate is slowly increasing.

Find support/learn more:

Biliary Atresia

Biliary atresia (BA) is a #rareliverdisease seen only in newborns in which bile ducts are blocked and damaged. Bile buildup causes scarring of the liver, or cirrhosis. The exact cause of BA remains unknown.

  • 1 in 15,000-20,000 infants worldwide are diagnosed with Biliary Atresia and have blocked, missing, or scarred bile ducts.

Learn more:

Budd-Chiari Syndrome

Budd-Chiari syndrome is a rare condition that obstructs the veins that carry blood away from the liver. This causes blood and fluids to accumulate in the liver, which can result in other complications.

Learn more:

Caroli Disease

Caroli disease (CD) is a rare genetic disease in which there is abnormal widening of the bile ducts in the liver. This may cause bile duct stones to form, which then obstructs bile flow. CD can result in liver damage or failure.

Learn more:


Cholangiocarcinoma (CCA) is a cancer that occurs in the bile ducts in and around the liver. Bile ducts serve as an important part of the digestive system. It can be linked with other rare conditions such as PSC.

  • CCA occurs in 1 in 100,000 people and has a poor prognosis for many patients to this day.

Find support/learn more:

Congenital Hepatic Fibrosis

Congenital hepatic fibrosis (CHF) is a rare genetic disease that affects the liver. CHF is often associated with diseases that affect the kidneys. CHF can cause an enlarged liver, increased pressure in the veins that carry blood to the liver, and connective tissue growing over and through the liver.

Learn more:

Cryptogenic Liver Disease

Cryptogenic liver disease is the rare phenomenon of a liver disease of entirely unknown cause. It is usually detected at the cirrhosis stage of disease. Due to its very nature, it is enormously underserved.

Learn more:

Cystic Fibrosis

Cystic fibrosis (CF) is a rare, incurable inherited disease that can affect the liver as well as lungs.

  • Only half of CF patients are expected to live beyond 47 years of age.
  • CF patients cannot meet each other in person due to bacterial cross-contamination risks.

Find support/learn more:

Dubin Johnson Syndrome

Individuals with Dubin Johnson Syndrome (DJS), a rare and benign liver disorder, have a mutation in the protein that transports bilirubin into bile and blood. While DJS doesn’t impede liver function, it can result in a blackened liver.

Learn more:


Galactosemia is a rare genetic disease, where an individual lacks GALT, a liver enzyme responsible for processing and converting galactose. The resulting high levels of galactose can lead to liver failure, enlargement, or scarring.

  • Classical Galactosemia is diagnosed in a range of 1 in 16,000-48,000 births globally through newborn screening.
  • Clinical variant galactosemia occurs most often in African Americans and Native Africans in South Africa who have the GALT-gene mutation.

Find support/learn more:

Gilberts Syndrome

Gilberts syndrome is a genetic rare liver disease in which the liver cannot effectively process and break down bilirubin. It is relatively mild, and most individuals do not experience symptoms.

Find support/learn more:

Hepatorenal Syndrome

Hepatorenal syndrome (HRS) occurs in individuals with advanced, chronic liver disease characterized by diminished kidney function. Symptoms include fatigue and abdominal pain.

  • HRS is estimated to occur in 8-10% of individuals with ascites (abdominal swelling) and cirrhosis globally.

Learn more:


Hemochromatosis is a rare disease in which the body stores and absorbs an excess amount of iron. Iron builds up in different organs, particularly the #liver. Iron overload is extremely toxic and can cause damage to the liver.

Find support/learn more:

Intrahepatic Cholestasis of Pregnancy

Intrahepatic cholestasis of pregnancy (ICP) is a rare liver condition that occurs during pregnancy. During the third trimester, liver cells are blocked from releasing bile, which then accumulates in the liver and can cause severe itch.

Find support/learn more:

Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency (LALD) is a rare genetic condition in which individuals are unable to produce lysosomal acid lipase, an enzyme that breaks down fats and cholesterol. This causes an accumulation of fats in the body, including the liver. Wolman Disease is the subtype of LALD that affects the liver.

Find support/learn more:

Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) leads to malfunctioning peroxisomes, which break down fatty acids and more. This can cause liver damage.

  • Severe PBD-ZSD, or Zellweger Syndrome, occurs in 1 in 50,000 people in North America, but 1 in 500,000 in Japan.

Find support/learn more:

Polycystic Liver Disease

Polycystic Liver Disease (PLD) is a rare disease in which various sized cysts form throughout the liver. This can lead to its swelling, infection, and rupture. The cause of PLD is unknown.

Find support/learn more:

Primary Biliary Cholangitis

Primary biliary cholangitis (PBC) is a chronic rare liver disease in which immune cells attack cells of the bile ducts, causing inflammation and damage to the liver. This can result in the accumulation of bile, scarring, and ultimately, liver failure. PBC is currently incurable, but there are treatments available to slow or stop disease progression. Many support and advocacy groups work in PBC.

Find support/learn more:

Primary Sclerosing Cholangitis

Primary sclerosing cholangitis (PSC) is a rare, progressive liver disease in which inflammation and scarring occurs in the tissues of bile ducts. PSC can affect the bile flow in the liver, which can lead to cirrhosis in some cases. Currently, PSC is an incurable condition with a heavy symptom burden.

Find support/learn more:

Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a group of conditions in which the liver cannot process bile properly, which can lead to jaundice, severe itch, and liver swelling.

  • PFIC affects 1 in 50,000-100,000 births worldwide.
  • About 75% of PFIC type 2 patients develop fibrosis by age 2.

Find support/learn more:


Mucopolysaccharidoses are a collction of metabolic diseases caused by the lack or malfunctioning of enzymes that the body needs to break down certain sugars to help build bone, cartilage, tendons, corneas, and other tissues in the body. Symptoms of mucopolysaccharidosis type 2, for instance, typically appear between the ages of 2 and 4.

Learn more:

Reye Syndrome

Reye syndrome (also known as Reye’s Syndrome) is a rare condition that affects children and young adolescents during recovery from viral disease (i.e. flu or chickenpox). Resulting swelling of the brain and liver, as well as high enzyme levels, cause abnormal function.

Find support/learn more:

Sickle Cell Disease

Individuals with sickle cell disease (SCD) have sickle-shaped, dysfunctional red blood cells, which cause a blockage in blood flow and lack of oxygen. This inherited rare blood disorder can result in liver failure and disease.

  • 1 in 16,300 Hispanic Americans are estimated to have Sickle Cell Disease.

Find support/learn more:

Urea Cycle Disorders

Urea cycle disorders (UCDs) are a group of hereditary disorders that cause problems with the removal of waste in the body through urine by disrupting the urea cycle. The liver produces enzymes that change ammonia into urea, which can be removed from the body in urine. In children with UCDs, one of these enzymes is missing or defective, and ammonia builds up in the body.

  • UCDs occur in 1 in 30,000 newborns worldwide.

Learn more:

Wilson’s Disease

Wilson’s (Wilson) disease is a rare inherited disease, in which copper is not sent out as bile in the liver. This prevents an individual from disposing of copper from the body. This buildup of copper results in liver damage and failure.

Find support/learn more:

Rare Disease Patient Registries

Collecting data is crucial to understanding rare diseases, thereby informing research and driving innovative solutions. Do your part and contribute to rare liver disease research by participating in a registry.