Phenotypes associated with the disease IgG4-related thyroid disease (ORPHA:64744):
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:64744)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:64744)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64744)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64744)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64744)
- Anti-thyroglobulin antibody positivity (HP:0032069): The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64744)
- Increased circulating IgG4 concentration (HP:0032300): An abnormally increased concentration of the IgG4 subtype in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64744)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- Tracheal stenosis (HP:0002777). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- Nodular goiter (HP:0005994): Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- Euthyroid goiter (HP:0009798): A goiter that is not associated with functional thyroid abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:64744)
- Retroperitoneal fibrosis (HP:0005200). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
- Thyrotoxicosis with diffuse goiter (HP:0011784). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
- Abnormal pituitary gland morphology (HP:0012503): An anomaly of the pituitary gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
- Sclerosing cholangitis (HP:0030991): Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
- Sialadenitis (HP:0031281): Inflammation of a salivary gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
- Abnormality of the ocular adnexa (HP:0032039): An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
- Abnormal mediastinum morphology (HP:0045026): Any structural anomaly of the central compartment of the thoracic cavity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
- Pancreatic fibrosis (HP:0100732). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64744)
Not associated with this disease:
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. (ORPHA:64744)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: TAS. (ORPHA:64744)