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Disease Profile
Immunodysregulation, polyendocrinopathy and enteropathy X-linked
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
E31.0
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)
IPEX syndrome; X-linked autoimmunity-allergic dysregulation syndrome; XLAAD;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;
Summary
Immunodysregulation polyendocrinopathy enteropathy
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 | |||
Allergy | 0012393 | ||
Anti-thyroid peroxidase |
0025379 | ||
Crusting erythematous dermatitis | 0007473 | ||
Eczematoid dermatitis | 0000976 | ||
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 | |
Increased circulating IgE level | 0003212 | ||
Iron deficiency |
0001891 | ||
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T |
0031401 | ||
Secretory diarrhea | 0005208 | ||
Thyroiditis |
Thyroid gland inflammation
|
0100646 | |
Type I |
Type I diabetes
Type 1 diabetes
[ more ] |
0100651 | |
5%-29% of people have these symptoms | |||
Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 | |
Anti-liver cytosolic antigen type 1 antibody positivity | 0030909 | ||
Autoimmune |
0001890 | ||
Autoimmune |
0001973 | ||
Cachexia |
Wasting syndrome
|
0004326 | |
Decreased prealbumin level | 0031085 | ||
Elevated hepatic transaminase |
High liver enzymes
|
0002910 | |
Hepatitis |
Liver inflammation
|
0012115 | |
Hypoalbuminemia |
Low blood albumin
|
0003073 | |
Hypocalcemia |
Low blood calcium levels
|
0002901 | |
Hypomagnesemia |
Low blood magnesium levels
|
0002917 | |
Hypothyroidism |
Underactive thyroid
|
0000821 | |
Insulin receptor antibody positivity | 0031104 | ||
Interstitial pneumonitis | 0006515 | ||
Malabsorption |
Intestinal malabsorption
|
0002024 | |
Membranous nephropathy | 0012578 | ||
Nail dystrophy |
Poor nail formation
|
0008404 | |
Neutropenia in presence of anti-neutropil antibodies | 0001904 | ||
Psoriasiform dermatitis | 0003765 | ||
Recurrent gastroenteritis | 0031123 | ||
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 | |
Tubulointerstitial nephritis | 0001970 | ||
Urticaria |
Hives
|
0001025 | |
Vomiting |
Throwing up
|
0002013 | |
1%-4% of people have these symptoms | |||
Alopecia |
Hair loss
|
0001596 | |
Anti-glutamic acid decarboxylase antibody positivity | 0025329 | ||
Joint inflammation
|
0001369 | ||
Chronic diarrhea | 0002028 | ||
Colitis | 0002583 | ||
Coombs-positive hemolytic anemia | 0004844 | ||
Dependency on intravenous nutrition | 0025156 | ||
Eczema | 0000964 | ||
Erythroderma | 0001019 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | |
Food allergy | 0500093 | ||
Gastritis |
Stomach inflammation
|
0005263 | |
Global |
0001263 | ||
Glomerulonephritis | 0000099 | ||
Hyperthyroidism |
Overactive thyroid
|
0000836 | |
Ileus | 0002595 | ||
Lymphadenopathy |
Swollen lymph nodes
|
0002716 | |
0001287 | |||
Myositis |
Muscle inflammation
|
0100614 | |
Nasogastric tube feeding | 0040288 | ||
Nephrotic |
0000100 | ||
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 | |
Osteomyelitis |
Bone infection
|
0002754 | |
Pneumonia | 0002090 | ||
0001250 | |||
Sepsis |
Infection in blood stream
|
0100806 | |
Severe infection | 0032169 | ||
Splenomegaly |
Increased spleen size
|
0001744 | |
Ventriculomegaly | 0002119 | ||
Villous atrophy | 0011473 | ||
Percent of people who have these symptoms is not available through HPO | |||
Eosinophilia |
DiagnosisMaking 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
Related diseasesRelated 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.
OrganizationsSupport 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 moreThese 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
References
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