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Disease Profile
Hereditary elliptocytosis
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.
1-5 / 10 000
Age of onset
All ages
ICD-10
D58.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Categories
Blood Diseases; Congenital and Genetic Diseases
Summary
Hereditary elliptocytosis (HE) refers to a group of
Symptoms
The most common signs and symptoms of hereditary elliptocytosis are:[3]
•
-fatigue
-shortness of breath
• Gallstones
• Yellowing of the skin and eyes (
• Enlarged spleen (splenomegaly)
• Very low blood levels after an infection (aplastic crisis)
Hydrops fetalis, an abnormal buildup of fluids in the body of a fetus, has been reported, as well as more serious anemia in early childhood.[4]
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 | ||
Elliptocytosis | 0004445 | |
Increased red |
0005502 | |
5%-29% of people have these symptoms | ||
0004804 | ||
Neonatal hyperbilirubinemia | 0003265 | |
Prolonged neonatal jaundice |
Prolonged yellowing of skin in newborn
|
0006579 |
Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] |
0001923 |
Splenomegaly |
Increased spleen size
|
0001744 |
Stomatocytosis | 0004446 | |
1%-4% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Chills | 0025143 | |
Cholelithiasis |
Gallstones
|
0001081 |
Fever | 0001945 | |
Frontal bossing | 0002007 | |
Hydrops fetalis | 0001789 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Diagnosis
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells (i.e. iron, vitamin B12 and folate deficiency, and microangiopathic hemolytic anemia), congenital dyserythropoietic anemia and alpha and beta thalassemia (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Iron Disorders Institute Inc.
P.O. Box 4891
Greenville, SC 29608
Fax: 864-292-1878
E-mail: [email protected]
Website: https://www.irondisorders.org/
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.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Hereditary Elliptocytosis
Pediatric Hereditary Elliptocytosis and Related Disorders - 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.
References
- Elliptocytosis I, EL1. Online Mendelian Inheritance in Man (OMIM). Updated 5/1/2018; https://www.omim.org/entry/611804.
- Narla J, Mohandas N. Red cell membrane disorders. Intl Jl Lab Hemotol. May 2017; 39 Suppl 1:47-52. https://www.ncbi.nlm.nih.gov/pubmed/28447420.
- Niss O, Chonat S, Dagaaonkar N, Almansoori MO, et al. Genotype-Phenotype Correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mol Dis. Oct 2016; 61:4-9. https://www.ncbi.nlm.nih.gov/pubmed/27667160.
- Hereditary elliptocytosis. Orphanet. Apr 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=288.
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