{"Name":"Familial chylomicronemia syndrome","DiseaseID__c":"GARD:0006414","id":6414,"encodedName":"familial-chylomicronemia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial chylomicronemia syndrome","Xref_IDs__c":"1197489003; C5442313; DOID:0111417; MEDGEN:1778100; MONDO:0018637; ORPHA:444490","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"GARD:0006414","Disease_Description__c":"Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood. This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas. Hyperlipoproteinemia type 1 is caused by genetic changes in the LPL gene. This condition is inherited in an autosomal recessive pattern.","GARD_Name__c":"Familial chylomicronemia syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Familial chylomicronemia syndrome (Hyperlipoproteinemia type 1) is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood. This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas. Familial chylomicronemia syndrome is caused by genetic changes in the LPL gene. This condition is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:444490","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018637","ORPHANET_ID__c":"ORPHA:444490","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de quilomicronemia familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de quilomicronemia familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","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":"Familial chylomicronemia syndrome (Hyperlipoproteinemia type 1) is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood. This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas. Familial chylomicronemia syndrome is caused by genetic changes in the LPL gene. This condition is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Familial chylomicronemia syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation of the National Lipid Association","Website__c":"https://www.learnyourlipids.com/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:444490"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:444490"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:444490"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:444490"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5442313","Source__c":"C5442313","Xref__c":"C5442313"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1778100","Source__c":"C5442313","Xref__c":"MEDGEN:1778100"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111417","Source__c":"MONDO:0018637","Xref__c":"DOID:0111417"},{"URL__c":"https://www.orpha.net/en/disease/detail/444490","Source__c":"C5442313; MONDO:0018637; ORPHA:444490","Xref__c":"ORPHA:444490"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197489003","Source__c":"C5442313","Xref__c":"1197489003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018637","Source__c":"GARD:0006414","Xref__c":"MONDO:0018637"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002204","HPO_Synonym__c":"Blood clot in artery of lung","HPO_Name__c":"Pulmonary embolism","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004416","HPO_Synonym__c":"Premature atherosclerosis","HPO_Name__c":"Precocious atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A acute form of pancreatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001735","HPO_Synonym__c":"Acute pancreatic inflammation; Pancreatitis, acute","HPO_Name__c":"Acute pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an abscess located around the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009789","HPO_Name__c":"Perianal abscess","Feature_System__c":"Skin System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100851","HPO_Name__c":"Abnormal emotional state","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Very frequent (80-99%)","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:444490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000660","HPO_Name__c":"Lipemia retinalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001013","HPO_Name__c":"Eruptive xanthomas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","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:444490","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012238","HPO_Synonym__c":"Hyperchylomicronemia; Increased chylomicrons; Increased circulating chylomicron levels","HPO_Name__c":"Increased circulating chylomicron concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","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:444490","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A recurrent form of pancreatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100027","HPO_Synonym__c":"Recurring pancreas inflammation; Recurring pancreatitis","HPO_Name__c":"Recurrent pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:444490","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally low body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004325","HPO_Synonym__c":"Decreased body weight; Decreased weight; Low body weight; Low weight; Weight less than 3rd percentile","HPO_Name__c":"Decreased body weight","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":[""]}