IPEX
MCID: IMM106
MIFTS: 66
|
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (IPEX)
Categories:
Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
|
|
MalaCards integrated aliases for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:
Characteristics:Orphanet epidemiological data:58
immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood; OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
variable severity death usually occurs in infancy or childhood if untreated
Inheritance:
x-linked recessive HPO:31
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked:
Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Gastrointestinal diseases Endocrine diseases Blood diseases Immune diseases
ICD10:
32
33
Orphanet: 58
![]() ![]() ![]() |
MedlinePlus Genetics :
43
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is caused by problems with the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body. However, the immune system can malfunction and attack the body's own tissues and organs instead, which is known as autoimmunity. IPEX syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. IPEX syndrome can be life-threatening in early childhood.Almost all individuals with IPEX syndrome develop a disorder of the intestines called autoimmune enteropathy. Autoimmune enteropathy occurs when certain cells in the intestines are destroyed by a person's immune system. It causes severe diarrhea, which is usually the first symptom of IPEX syndrome. Autoimmune enteropathy typically begins in the first few months of life. It can cause failure to gain weight and grow at the expected rate (failure to thrive) and general wasting and weight loss (cachexia).People with IPEX syndrome frequently develop inflammation of the skin, called dermatitis. Eczema is the most common type of dermatitis that occurs in this syndrome, and it causes abnormal patches of red, irritated skin. Other skin disorders that cause similar symptoms are sometimes present in IPEX syndrome.The term polyendocrinopathy is used in IPEX syndrome because individuals can develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune condition involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome. It usually develops within the first few months of life and prevents the body from properly controlling the amount of sugar in the blood. Autoimmune thyroid disease may also develop in people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. This gland is commonly underactive (hypothyroidism) in individuals with this disorder, but may become overactive (hyperthyroidism).Individuals with IPEX syndrome typically develop other types of autoimmune disorders in addition to those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; about half of affected individuals have low levels of red blood cells (anemia), platelets (thrombocytopenia), or certain white blood cells (neutropenia) because these cells are attacked by the immune system. In some individuals, IPEX syndrome involves the liver and kidneys.
MalaCards based summary : Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked, also known as diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked, is related to autoimmune enteropathy and polyendocrinopathy, and has symptoms including diarrhea An important gene associated with Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are Th17 cell differentiation and Inflammatory bowel disease. The drugs Cisplatin and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and thyroid, and related phenotypes are type i diabetes mellitus and failure to thrive in infancy Disease Ontology : 12 An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. GARD : 20 Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare autoimmune disease. it affects only males and starts in the first six months of life. The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis). IPEX syndrome is caused by changes (mutations) of the FOXP3 gene, which is located on the X chromosome. There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females. Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments. OMIM® : 57 IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The disorder may be fatal before age 2 years if not aggressively treated. Long-term therapeutic options include immunosuppression and hematopoietic stem cell transplantation (review by d'Hennezel et al., 2012). (304790) (Updated 05-Mar-2021) KEGG : 36 IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of T-cell homeostasis. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema. UniProtKB/Swiss-Prot : 73 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome: Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy. Wikipedia : 74 Immunodysregulation polyendocrinopathy enteropathy X-linked (or IPEX) syndrome is a rare disease linked... more...
GeneReviews:
NBK1118
|
Human phenotypes related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:58 31 (show top 50) (show all 76)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:304790 (Updated 05-Mar-2021)UMLS symptoms related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:diarrhea MGI Mouse Phenotypes related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:46 (show all 11)
|
Drugs for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
|
Genetic tests related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:
|
MalaCards organs/tissues related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:40
Skin,
T Cells,
Thyroid,
Bone Marrow,
Pancreas,
Liver,
Bone
|
Articles related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:(show top 50) (show all 353)
|
ClinVar genetic disease variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:6 (show top 50) (show all 66)
UniProtKB/Swiss-Prot genetic disease variations for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked:73
|
Search
GEO
for disease gene expression data for Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked.
|
Pathways related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to KEGG:36
Pathways related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:(show all 50)
|
Cellular components related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:
Biological processes related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:(show all 38)
Molecular functions related to Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked according to GeneCards Suite gene sharing:
|
|