Phenotypes associated with the disease Autoimmune polyendocrinopathy type 4 (ORPHA:227990):
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:227990)
- Macrocytic anemia (HP:0001972): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:227990)
- Atrophic gastritis (HP:0002582): Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:227990)
- Celiac disease (HP:0002608): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:227990)
- Autoimmune antibody positivity (HP:0030057): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:227990)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:227990)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:227990)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:227990)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:227990)
- Biliary cirrhosis (HP:0002613): Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:227990)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:227990)
- Anterior pituitary dysgenesis (HP:0010625): Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:227990)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Central diabetes insipidus (HP:0000863): A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Iridocyclitis (HP:0001094): A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Rheumatoid arthritis (HP:0001370): Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Aplasia/Hypoplasia of the spleen (HP:0010451): Absence or underdevelopment of the spleen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Non-caseating epithelioid cell granulomatosis (HP:0012220): The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
- Thymoma (HP:0100522): A tumor originating from the epithelial cells of the thymus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:227990)
Not associated with this disease:
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. (ORPHA:227990)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: TAS. (ORPHA:227990)
- Primary adrenal insufficiency (HP:0008207): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. Evidence: TAS. (ORPHA:227990)
- Graves disease (HP:0100647): An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. Evidence: TAS. (ORPHA:227990)