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Disease Profile

Aagenaes 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q82.0

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)

Cholestasis lymphedema syndrome; CHLS; LCS;

Categories

Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;

Summary

Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[1][2] At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.[3] This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.[2]

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
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormality of urine homeostasis
Pee issues
Urine issues

[ more ]

0003110
Acholic stools
Clay colored stools
0011985
Biliary tract abnormality
0001080
Fatigue
Tired
Tiredness

[ more ]

0012378
Hepatomegaly
Enlarged liver
0002240
Hyperlipidemia
Elevated lipids in blood
0003077
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Nausea and vomiting
0002017
Neonatal cholestatic liver disease
0006566
30%-79% of people have these symptoms
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Multiple lipomas
Multiple fatty lumps
0001012
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Bone pain
0002653
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Portal hypertension
0001409
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Conjugated hyperbilirubinemia
0002908
Elevated alkaline phosphatase
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase

[ more ]

0003155
Elevated hepatic transaminase
High liver enzymes
0002910
Erysipelas
0001055
Malabsorption
Intestinal malabsorption
0002024

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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.

    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 Aagenaes syndrome. Click on the link to view a sample search on this topic.

      References

      1. Dang S, Sigal Y, Davies D. Recurrent cellulitis in a case of Aagenaes syndrome. Clin Pediatr (Phila). 2009; https://www.ncbi.nlm.nih.gov/pubmed/19498211. Accessed 9/13/2012.
      2. Drivdal M, Trydal T, Hagve TA, Bergstad I, Aagenaes O. Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). Scand J Gastroenterol. 2006; https://www.ncbi.nlm.nih.gov/pubmed/16635916. Accessed 9/13/2012.
      3. Cholestasis-Lymphedema Syndrome. Online Mendelian Inheritance in Man (OMIM). 2007; https://omim.org/entry/214900. Accessed 9/13/2012.