- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: PCS. Frequency: 3/3. (PMID:25926518)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 3/11. (PMID:11836330)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 5/13. Onset: Juvenile onset (HP:0003621). (PMID:19758376)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 1/15. (PMID:18616706)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. Frequency: 17/24. (PMID:16965330;PMID:2348835;PMID:18616706;PMID:19807739)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: PCS. Frequency: 22/106. (PMID:16965330;PMID:28540407;PMID:2348835;PMID:18616706;PMID:11836330;PMID:19807739)
- 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: PCS. Frequency: 8/29. (PMID:22024611;PMID:18616706;PMID:11836330)
- Keratoconjunctivitis (HP:0001096): Inflammation of the cornea and conjunctiva. Evidence: PCS. Frequency: 8/29. (PMID:16965330;PMID:19758376;PMID:11836330)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 2/15. (PMID:18616706)
- Hypocalcemic tetany (HP:0003472): Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. Evidence: PCS. Frequency: 1/1. (PMID:28540407)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/13. (PMID:19758376)
- Iridocyclitis (HP:0001094): A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. Evidence: PCS. Frequency: 1/13. Onset: Childhood onset (HP:0011463). (PMID:19758376)
- 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: PCS. Frequency: 3/13. Onset: Childhood onset (HP:0011463). (PMID:19758376)
- 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: PCS. Frequency: 8/68. (PMID:2348835)
- 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: PCS. Frequency: 1/9. (PMID:19807739)
- 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: PCS. Frequency: 2/15. (PMID:18616706)
- Hypoplastic spleen (HP:0006270): Underdevelopment of the spleen. Evidence: PCS. Frequency: 1/9. (PMID:19807739)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 8/28. (PMID:16965330;PMID:28540407;PMID:11836330)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 39/67. (PMID:9543115;PMID:16965330;PMID:28540407;PMID:19758376;PMID:18616706;PMID:22024611;PMID:19807739)
- Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. Evidence: PCS. Frequency: 1/4. (PMID:22024611)
- 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: PCS. Frequency: 3/19. (PMID:22024611;PMID:18616706)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 2/9. (PMID:19807739)
- Tympanosclerosis (HP:0020123): A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. Evidence: PCS. Frequency: 22/68. (PMID:2348835)
- Nail pits (HP:0001803): Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. Evidence: PCS. Frequency: 2/9. (PMID:19807739)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: PCS. (PMID:28740581)
- Anti-GAD65 antibody (HP:5000011): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). Evidence: PCS. Frequency: 3/21. (PMID:19758376;PMID:19807739)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 9/27. (PMID:19758376;PMID:18616706)
- Female hypogonadism (HP:0000134): Decreased functionality of the female gonads, i.e., of the ovary. Evidence: PCS. (PMID:11836330)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: PCS. Frequency: 1/4. (PMID:22024611)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: PCS. Frequency: 7/25. (PMID:19758376;PMID:22024611;PMID:19807739)
- Nasal polyposis (HP:0100582): Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. Evidence: PCS. Frequency: 1/9. (PMID:19807739)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: PCS. (PMID:25926518)
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: PCS. Frequency: 68/68. (PMID:2348835)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11836330)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/9. (PMID:19807739)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: PCS. Frequency: 49/68. (PMID:2348835)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 35/72. (PMID:2348835;PMID:22024611)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:19758376)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: PCS. Frequency: 1/1. (PMID:16965330)
- Anti-21-hydroxylase antibody positivity (HP:0034071): The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. Evidence: PCS. Frequency: 5/12. (PMID:22024611;PMID:19807739)
- 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: PCS. Frequency: 9/11. (PMID:11836330)
- 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: PCS. Frequency: 5/13. Onset: Juvenile onset (HP:0003621). (PMID:19758376)
- 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: PCS. Frequency: 7/15. (PMID:16965330)
- 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: PCS. Frequency: 1/1. (PMID:28540407)
- 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: PCS. Frequency: 2/4. (PMID:22024611)
- 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: PCS. Frequency: 7/9. (PMID:19807739)
- 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: PCS. Frequency: 15/15. (PMID:18616706)
- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: PCS. Frequency: 7/13. Onset: Juvenile onset (HP:0003621). (PMID:19758376)
- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: PCS. Frequency: 1/4. (PMID:22024611)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 38/106. (PMID:16965330;PMID:2348835;PMID:18616706;PMID:11836330;PMID:19807739)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. Frequency: 5/5. (PMID:25926518)
- Anti-reticulin antibody positivity (HP:4000030): The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. Evidence: PCS. Frequency: 1/13. (PMID:19758376)
- Unusual fungal nail infection (HP:0012203): Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species. Evidence: PCS. Frequency: 3/17. (PMID:19758376;PMID:22024611)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 67/93. (PMID:28540407;PMID:2348835;PMID:22024611;PMID:11836330;PMID:19807739)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 10/25. (PMID:9543115;PMID:18616706)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/5. (PMID:25926518)
- Chronic active hepatitis (HP:0200120): Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. Evidence: PCS. Frequency: 14/47. (PMID:9543115;PMID:16965330)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: PCS. Frequency: 2/4. (PMID:22024611)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 14/24. (PMID:28540407;PMID:1941421;PMID:22024611;PMID:19807739)
- Vitiligo (HP:0001045). Evidence: PCS. Frequency: 17/107. (PMID:2348835;PMID:22024611;PMID:18616706;PMID:11836330;PMID:19807739)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 18/43. (PMID:16965330;PMID:22024611;PMID:18616706;PMID:19807739)
- Decreased circulating parathyroid hormone level (HP:0031817): An abnormally decreased concentration of parathyroid hormone. Evidence: PCS. Frequency: 23/23. (PMID:28740581;PMID:19758376)
- Antiparietal cell antibody positivity (HP:6000343): The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens. Evidence: PCS. Frequency: 8/29. (PMID:19758376;PMID:18616706;PMID:22024611;PMID:19807739)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: PCS. Frequency: 11/34. (PMID:9543115;PMID:18616706;PMID:19807739)
- Anti-thyroglobulin antibody positivity (HP:0032069): The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. Evidence: PCS. Frequency: 3/17. (PMID:19758376;PMID:22024611)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: PCS. Frequency: 1/9. (PMID:19807739)
- Anti-endomysial antibody positivity (HP:0033637): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). Evidence: PCS. Frequency: 1/13. (PMID:19758376)
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: PCS. Frequency: 121/136. (PMID:16965330;PMID:28540407;PMID:19758376;PMID:2348835;PMID:18616706;PMID:22024611;PMID:11836330;PMID:19807739)
- Anti-side-chain cleavage enzyme antibody positivity (HP:0034055): The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). Evidence: PCS. Frequency: 1/1. (PMID:19807739)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 11/11. (PMID:11836330)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 10/13. Onset: Neonatal onset (HP:0003623). (PMID:19758376)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 14/14. (PMID:18616706)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 4/4. (PMID:22024611)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 7/9. (PMID:19807739)
- 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: PCS. Frequency: 1/13. (PMID:19758376)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: PCS. Frequency: 3/13. (PMID:19758376)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 13/101. (PMID:19758376;PMID:2348835;PMID:11836330;PMID:19807739)
- Male hypogonadism (HP:0000026): Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. Evidence: PCS. (PMID:11836330)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: PCS. Frequency: 14/15. (PMID:16965330)
These phenotypes are associated with the disease autoimmune polyendocrine syndrome type 1 (OMIM:240300).