Rare Infectious Disease News

Disease Profile

Lucey-Driscoll syndrome

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.

Unknown

Age of onset

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ICD-10

#N/A

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)

Transient familial neonatal hyperbilirubinemia; Transient familial hyperbilirubinemia

Categories

Congenital and Genetic Diseases; Digestive Diseases

Summary

Lucey-Driscoll syndrome, also known as transient familial hyperbilirubinemia, is a rare condition that leads to very high levels of bilirubin in a newborn's blood. Bilirubin comes from the breakdown of red blood cells and is handled by the liver. Babies with this condition may be born with jaundice, causing yellow skin, yellow eyes and excess sleepiness (lethargy). The cause of Lucey-Driscoll syndrome is thought to be due to compounds in the mother's and baby's blood that block the breakdown of bilirubin.[1] In some babies, this condition may be the result of a genetic change in the UGT1A1 gene, a risk factor for high levels of bilirubin. The diagnosis is made based on the symptoms. Treatment for Lucey-Driscoll syndrome includes phototherapy, placing the baby under a blue light to treat the high level of bilirubin in the blood. Sometimes, replacing the baby's blood with different blood (exchange transfusion) is necessary.[2] If untreated, high levels of bilirubin can cause seizures, neurologic problems (kernicterus) and even death. Most babies with Lucey-Driscoll will have no additional complications after treatment.

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
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Cerebral palsy
0100021
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Kernicterus
0001343
Neonatal unconjugated hyperbilirubinemia
0008176

Cause

Lucey-Driscoll syndrome is caused by a substance in the blood that limits the ability of bilirubin to be removed by the body.[1] This leads to the build-up of very high levels of bilirubin that may be toxic to the brain and other organs. Inherited cases may result from the pregnant woman having a gene change (mutation) in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1).[3] This gene mutation may increase the chance of a baby having Lucey-Driscoll syndrome.[4]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Lucey-Driscoll syndrome. This website is maintained by the National Library of Medicine.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lucey-Driscoll syndrome. Click on the link to view a sample search on this topic.

References

  1. Memon N, Weinberger BI, Hegyi T, Aleksunes LM,. Inherited disorders of bilirubin clearance. Pediatr Res. Mar 2016; 79(3):378-386. https://www.ncbi.nlm.nih.gov/pubmed/26595536.
  2. Diana Chambers, David Zieve. Transient familial hyperbilirubinemia. MedlinePlus. August 11, 2009; https://www.nlm.nih.gov/medlineplus/ency/article/001196.htm. Accessed 11/8/2010.
  3. Victor A. McKusick, Deborah L. Stone. Hyperbilirubinemia, transient familial neonatal, HBLRTFN. Online Mendelian Inheritance in Man (OMIM). Updated Sept 2013; https://www.ncbi.nlm.nih.gov/omim/237900.
  4. Erlinger S, Arias IM, Dhumeaux D. Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences. Gastroenterology. Jun 2014; 146(7):1625-1638. https://www.ncbi.nlm.nih.gov/pubmed/24704527.

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