Rare Gastroenterology News

Disease Profile

Biliary atresia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

Q44.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Non-syndromic biliary atresia; Isolated atresia of bile ducts; Isolated Biliary atresia

Categories

Congenital and Genetic Diseases; Digestive Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 30391

Definition
Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Acholic stools
Clay colored stools
0011985
Atretic gallbladder
0011984
Conjugated hyperbilirubinemia
0002908
Dark yellow urine
0040321
Decreased liver function
Liver dysfunction
0001410
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase

[ more ]

0003155
Elevated gamma-glutamyltransferase level
0030948
Elevated hepatic transaminase
High liver enzymes
0002910
Fat malabsorption
0002630
Hepatomegaly
Enlarged liver
0002240
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Prolonged prothrombin time
0008151
Severe failure to thrive
Severe faltering weight
Severe weight faltering

[ more ]

0001525
5%-29% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Bile duct proliferation
0001408
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Hypopituitarism
0040075
Hypothyroidism
Underactive thyroid
0000821
Ophthalmoplegia
Eye muscle paralysis
0000602
Periportal fibrosis
0001405
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Seizure
0001250
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
Splenomegaly
Increased spleen size
0001744
1%-4% of people have these symptoms
Xanthelasma
Fatty deposits in skin around the eyes
Fatty deposits on eyelids

[ more ]

0001114

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.