{"Name":"Pancreatic triacylglycerol lipase deficiency","DiseaseID__c":"GARD:0017401","id":17401,"encodedName":"pancreatic-triacylglycerol-lipase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Pancreatic triacylglycerol lipase deficiency","Xref_IDs__c":"78960005; C129030; C3280527; MEDGEN:482157; MONDO:0013700; OMIM:614338; ORPHA:309031","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013700","Disease_Description__c":"An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.","GARD_Name__c":"Pancreatic triacylglycerol lipase deficiency","GARD_Synonym__c":"lipase, congenital absence of pancreatic; pancreatic triglyceride lipase deficiency; pl deficiency","Curated_Disease_Description_Source__c":"ORPHA:309031","Curated_Disease_Description__c":"A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:309031","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013700","ORPHANET_ID__c":"ORPHA:309031","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de triacilglicerol-lipasa pancreática","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de triacilglicerol-lipasa pancreática","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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":"A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.","Curated_Disease_Description_Source__c":"ORPHA:309031","GARD_Synonym__c":"lipase, congenital absence of pancreatic; pancreatic triglyceride lipase deficiency; pl deficiency","Name":"Pancreatic triacylglycerol lipase deficiency","estimateUsa":""}],"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":"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":"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:309031"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482157","Source__c":"C3280527","Xref__c":"MEDGEN:482157"},{"URL__c":"https://www.orpha.net/en/disease/detail/309031","Source__c":"C3280527; MONDO:0013700","Xref__c":"ORPHA:309031"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78960005","Source__c":"MONDO:0013700","Xref__c":"78960005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280527","Source__c":"C3280527","Xref__c":"C3280527"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129030","Source__c":"C3280527; MONDO:0013700","Xref__c":"C129030"},{"URL__c":"https://www.omim.org/entry/614338","Source__c":"C3280527; MONDO:0013700; ORPHA:309031","Xref__c":"OMIM:614338"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013700","Source__c":"GARD:0017401","Xref__c":"MONDO:0013700"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PNLIP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","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:309031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012047","HPO_Synonym__c":"Day blindness","HPO_Name__c":"Hemeralopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Frequent (30-79%)","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:309031","HPO_Frequency__c":"Frequent (30-79%)","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:309031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001738","HPO_Synonym__c":"Inability to properly digest food due to lack of pancreatic digestive enzymes","HPO_Name__c":"Exocrine pancreatic insufficiency","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Frequent (30-79%)","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:309031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002748","HPO_Synonym__c":"Weak and soft bones","HPO_Name__c":"Rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Frequent (30-79%)","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:309031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002570","HPO_Synonym__c":"Fat in feces; Fatty stool; Greasy stools","HPO_Name__c":"Steatorrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Frequent (30-79%)","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:309031","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002583","HPO_Name__c":"Colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:309031","HPO_Frequency__c":"Frequent (30-79%)","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:309031","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["lipase, congenital absence of pancreatic"," pancreatic triglyceride lipase deficiency"," pl deficiency"]}