Rare Endocrinology News
Disease Profile
Omenn syndrome
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.
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Age of onset
Infancy
ICD-10
D81.8
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
Other names (AKA)
Reticuloendotheliosis familial with eosinophilia; Severe combined immunodeficiency with hypereosinophilia
Categories
Congenital and Genetic Diseases; Immune System Diseases
Summary
Omenn
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 | ||
Abnormal |
0004332 | |
Alopecia |
Hair loss
|
0001596 |
Chronic diarrhea | 0002028 | |
Erythroderma | 0001019 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Severe combined immunodeficiency | 0004430 | |
30%-79% of people have these symptoms | ||
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
Desquamation of skin soon after birth | 0007549 | |
Dry skin | 0000958 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Eosinophilia |
High blood eosinophil count
|
0001880 |
Fever | 0001945 | |
Pneumonia | 0002090 | |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Splenomegaly |
Increased spleen size
|
0001744 |
Thickened skin |
Thick skin
|
0001072 |
5%-29% of people have these symptoms | ||
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Nephrotic syndrome | 0000100 | |
Sepsis |
Infection in blood stream
|
0100806 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Thyroiditis |
Thyroid gland inflammation
|
0100646 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Diarrhea |
Watery stool
|
0002014 |
Hypoplasia of the thymus |
Small thymus
|
0000778 |
Hypoproteinemia |
Decreased protein levels in blood
|
0003075 |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
Recurrent fungal infections | 0002841 | |
Recurrent viral infections | 0004429 | |
Severe B lymphocytopenia | 0005365 | |
Low platelet count
|
0001873 |
Cause
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 graft-versus-host disease, histiocytosis, Job syndrome, Netherton syndrome, and severe combined immunodeficiencies (see these terms), particularly those associated with maternal T-cell engraftment.
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
-
Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
Winnepeg, MB
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
E-mail: https://www.cipo.ca/#contact
Website: https://cipo.ca -
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Rock Bottom, Trerieve
Downderry
PL11 3LY
United Kingdom
Telephone: 44-01503-250-668/961
E-mail: [email protected]
Website: https://ipopi.org -
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: [email protected]
Website: https://www.info4pi.org/
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
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
- Genetics Home Reference (GHR) contains information on Omenn syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Omenn syndrome. Click on the link to view a sample search on this topic.
References
- Schwartz RA, Lin RY. Omenn Syndrome. eMedicine. May 9, 2011; https://emedicine.medscape.com/article/887687-overview. Accessed 3/21/2012.
- Aleman K, Noordzij JG, de Groot R, van Dongen JJ, Hartwig NG. Reviewing Omenn syndrome. Eur J Pediatr. 2001; https://www.ncbi.nlm.nih.gov/pubmed/11795679. Accessed 3/21/2012.
- Zhang ZY, Ahao XD, Jiang LP, Liu EM, Cui YX, Wang M, Wei H, Yu J, An YF, Yang XQ. Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. Pediatr Allergy Immunol. 2011; https://www.ncbi.nlm.nih.gov/pubmed/21771083. Accessed 3/21/2012.
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