{"Name":"Primary sclerosing cholangitis","DiseaseID__c":"GARD:0001280","id":1280,"encodedName":"primary-sclerosing-cholangitis","IsDeleted":false,"Disease_Name_Full__c":"Primary sclerosing cholangitis","Xref_IDs__c":"197441003; C0566602; C4828; DOID:0060643; K83.01; MEDGEN:107565; MONDO:0013433; OMIM:613806; ORPHA:171","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0013433","Disease_Description__c":"Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.","GARD_Name__c":"Primary sclerosing cholangitis","GARD_Synonym__c":"psc; psc - primary sclerosing cholangitis","Curated_Disease_Description_Source__c":"GARD:0001280","Curated_Disease_Description__c":"Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver. Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (osteoporosis) in people with primary sclerosing cholangitis. Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (cholangiocarcinoma).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:171","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013433","ORPHANET_ID__c":"ORPHA:171","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colangitis esclerosante primaria","Spanish_Description_Source__c":"ORPHA:171","Spanish_Description__c":"La colangitis esclerosante primaria (CEP) es una enfermedad hepática lentamente progresiva y poco frecuente caracterizada por inflamación y destrucción de los conductos biliares intra y/o extra hepáticos que producen colestasis, fibrosis hepática, cirrosis hepática y finalmente en fallo hepático.","Spanish_Disease_Name__c":"colangitis esclerosante primaria","Spanish_GARD_Synonym__c":"psc","Category_Linearization__c":"ORPHA:57146","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver. Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (osteoporosis) in people with primary sclerosing cholangitis. Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (cholangiocarcinoma).","Curated_Disease_Description_Source__c":"GARD:0001280","GARD_Synonym__c":"psc; psc - primary sclerosing cholangitis","Name":"Primary sclerosing cholangitis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Liver Disease Foundation","Website__c":"https://childliverdisease.org/"},{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"Guts UK!","Website__c":"https://gutscharity.org.uk/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"PSC Partners Seeking a Cure","Website__c":"https://pscpartners.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:171"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:171"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:171"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:171"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0566602"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001280","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0566602","Source__c":"C0566602","Xref__c":"C0566602"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060643","Source__c":"MONDO:0013433","Xref__c":"DOID:0060643"},{"URL__c":"https://www.orpha.net/en/disease/detail/171","Source__c":"C0566602; MONDO:0013433; ORPHA:171","Xref__c":"ORPHA:171"},{"URL__c":"https://www.omim.org/entry/613806","Source__c":"C0566602; MONDO:0013433; ORPHA:171","Xref__c":"OMIM:613806"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=107565","Source__c":"C0566602","Xref__c":"MEDGEN:107565"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=197441003","Source__c":"C0566602; MONDO:0013433","Xref__c":"197441003"},{"URL__c":"https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis","Source__c":"GARD:0001280","Xref__c":"https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013433","Source__c":"GARD:0001280","Xref__c":"MONDO:0013433"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4828","Source__c":"C0566602","Xref__c":"C4828"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/K83.01","Source__c":"MONDO:0013433","Xref__c":"K83.01"},{"URL__c":"https://www.niddk.nih.gov/health-information/liver-disease/primary-sclerosing-cholangitis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SEMA4D","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012700","HPO_Name__c":"Abnormal large intestine physiology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008151","HPO_Synonym__c":"Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity","HPO_Name__c":"Prolonged prothrombin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006554","HPO_Synonym__c":"Acute liver failure","HPO_Name__c":"Acute hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010638","HPO_Synonym__c":"Elevated ALP of hepatic origin","HPO_Name__c":"Elevated alkaline phosphatase of hepatic origin","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100279","HPO_Synonym__c":"Colitis ulcerosa","HPO_Name__c":"Ulcerative colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100626","HPO_Synonym__c":"Chronic liver failure","HPO_Name__c":"Chronic hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003700","HPO_Synonym__c":"Diffuse amyotrophy; Diffuse muscle atrophy; Diffuse muscle wasting; Diffuse skeletal muscle wasting; Generalized muscle atrophy; Generalized muscle degeneration; Muscle atrophy, diffuse; Muscle atrophy, generalized; Muscular atrophy, generalized","HPO_Name__c":"Generalized amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Concentration of vitamin A below the lower limit of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004905","HPO_Synonym__c":"Low levels of vitamin A; Vitamin A deficiency","HPO_Name__c":"Reduced circulating vitamin A concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100575","HPO_Name__c":"Neoplasm of the gallbladder","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of telangiectases on the skin of palm of hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100869","HPO_Synonym__c":"Telangiectases of palms and soles; Teleangiectases of palms","HPO_Name__c":"Palmar telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in diameter of the veins located underneath the skin of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030168","HPO_Synonym__c":"Dilatation of the superficial abdominal veins","HPO_Name__c":"Dilated superficial abdominal veins","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin K in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011892","HPO_Synonym__c":"Low levels of vitamin K","HPO_Name__c":"Decreased circulating vitamin K concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012522","HPO_Name__c":"Spider hemangioma","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001396","HPO_Synonym__c":"Slowed or blocked flow of bile from liver","HPO_Name__c":"Cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002608","HPO_Synonym__c":"Celiac disease; Celiac sprue","HPO_Name__c":"Celiac disease","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant epithelial tumor with a glandular organization that originates in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040275","HPO_Name__c":"Adenocarcinoma of the large intestine","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An excessive number of histiocytes (tissue macrophages).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100727","HPO_Name__c":"Histiocytosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin D in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100512","HPO_Synonym__c":"Deficient in vitamin D; Low levels of vitamin D; Vitamin D deficiency","HPO_Name__c":"Decreased circulating vitamin D concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011034","HPO_Name__c":"Amyloid deposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100513","HPO_Synonym__c":"Alpha-tocopherol deficiency; Low levels of vitamin E; Vitamin E deficiency","HPO_Name__c":"Decreased circulating vitamin E concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100646","HPO_Synonym__c":"Thyroid gland inflammation","HPO_Name__c":"Thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012440","HPO_Synonym__c":"Anomaly of the biliary tract","HPO_Name__c":"Abnormal biliary tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005429","HPO_Name__c":"Recurrent systemic pyogenic infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal count or structure of eosinophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001879","HPO_Synonym__c":"Abnormality of eosinophils","HPO_Name__c":"Abnormal eosinophil morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003459","HPO_Name__c":"Polyclonal elevation of IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030153","HPO_Synonym__c":"Bile duct cancer","HPO_Name__c":"Cholangiocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology","Pediatrics"]},"synonyms":["psc"," psc - primary sclerosing cholangitis"]}