{"Name":"Wolman disease","DiseaseID__c":"GARD:0007899","id":7899,"encodedName":"wolman-disease","IsDeleted":false,"Disease_Name_Full__c":"Wolman disease","Xref_IDs__c":"238074007; 423022530; 82500001; C0043208; C564736; C61271; D015223; DOID:14497; MEDGEN:53088; MONDO:0019148; OMIM:620151; ORPHA:75233","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019148","Disease_Description__c":"A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.","GARD_Name__c":"Wolman disease","GARD_Synonym__c":"acid cholesteryl ester hydrolase deficiency, wolman type; acid esterase deficiency; acid lipase deficiency; acid lipase disease; cholesterol ester hydrolase deficiency, complete; deficiency of cholesterol esterase and triacylglycerol lipase; familial visceral xanthomatosis; lal deficiency, complete; lipa deficiency, complete; lysosomal acid lipase deficiency, acute infantile; lysosomal acid lipase deficiency, complete; primary familial xanthomatosis; primary familial xanthomatosis with adrenal calcification; wold; wolman disease with hypolipoproteinemia and acanthocytosis; wolman disease, cesd; wolman xanthomatosis; wolman's disease; wolman's or triglyceride storage type iii disease; xanthomatosis, familial","Curated_Disease_Description_Source__c":"GARD:0007899","Curated_Disease_Description__c":"Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency. The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by genetic changes in the LIPA gene which provides instructions to make the lysosomal acid lipase. Inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:75233","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019148","ORPHANET_ID__c":"ORPHA:75233","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de wolman","Spanish_Description_Source__c":"ORPHA:75233","Spanish_Description__c":"Es una forma grave de deficiencia de lipasa ácida lisosomal caracterizada por un acúmulo de lípidos rápidamente progresivo en órganos y tejidos. La enfermedad debuta en el período neonatal o de lactancia con hepatoesplenomegalia masiva, insuficiencia hepática, diarrea/esteatorrea y vómitos.","Spanish_Disease_Name__c":"enfermedad de wolman","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":"Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency. The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by genetic changes in the LIPA gene which provides instructions to make the lysosomal acid lipase. Inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0007899","GARD_Synonym__c":"acid cholesteryl ester hydrolase deficiency, wolman type; acid esterase deficiency; acid lipase deficiency; acid lipase disease; cholesterol ester hydrolase deficiency, complete; deficiency of cholesterol esterase and triacylglycerol lipase; familial visceral xanthomatosis; lal deficiency, complete; lipa deficiency, complete; lysosomal acid lipase deficiency, acute infantile; lysosomal acid lipase deficiency, complete; primary familial xanthomatosis; primary familial xanthomatosis with adrenal calcification; wold; wolman disease with hypolipoproteinemia and acanthocytosis; wolman disease, cesd; wolman xanthomatosis; wolman's disease; wolman's or triglyceride storage type iii disease; xanthomatosis, familial","Name":"Wolman disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"LAL-D Aware","Website__c":"https://laldaware.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":"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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:75233"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:75233"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0043208"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007899","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK305870","Source__c":"Gene Review","Xref__c":"NBK305870"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14497","Source__c":"MONDO:0019148","Xref__c":"DOID:14497"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61271","Source__c":"C0043208; MONDO:0019148","Xref__c":"C61271"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=53088","Source__c":"C0043208","Xref__c":"MEDGEN:53088"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238074007","Source__c":"MONDO:0019148","Xref__c":"238074007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0043208","Source__c":"C0043208","Xref__c":"C0043208"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015223","Source__c":"C0043208; MONDO:0019148","Xref__c":"D015223"},{"URL__c":"https://www.omim.org/entry/620151","Source__c":"C0043208; MONDO:0019148","Xref__c":"OMIM:620151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564736","Source__c":"MONDO:0019148","Xref__c":"C564736"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82500001","Source__c":"C0043208; MONDO:0019148","Xref__c":"82500001"},{"URL__c":"https://www.orpha.net/en/disease/detail/75233","Source__c":"C0043208; MONDO:0019148; ORPHA:75233","Xref__c":"ORPHA:75233"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019148","Source__c":"GARD:0007899","Xref__c":"MONDO:0019148"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022530","Xref__c":"423022530"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LIPA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lipa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Very frequent (80-99%)","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:75233","HPO_Frequency__c":"Very frequent (80-99%)","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:75233","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Calcification within the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010512","HPO_Name__c":"Adrenal calcification","Feature_System__c":"Musculoskeletal System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Very frequent (80-99%)","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:75233","HPO_Frequency__c":"Very frequent (80-99%)","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:75233","HPO_Frequency__c":"Frequent (30-79%)","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:75233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency in the intake of energy and nutrients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004395","HPO_Synonym__c":"Malnutrition","HPO_Name__c":"Malnutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","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:75233","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000846","HPO_Synonym__c":"Hypoadrenalism","HPO_Name__c":"Adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004333","HPO_Synonym__c":"Bone marrow foam cells; Large vacuolated foam cells ('NP cells') on bone marrow biopsy; Large vacuolated foam cells on bone marrow biopsy","HPO_Name__c":"Bone-marrow foam cells","Feature_System__c":"Cardiovascular System; Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Extreme dilation of the submucusoal veins in the lower portion of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002040","HPO_Synonym__c":"Enlarged vein in esophagus","HPO_Name__c":"Esophageal varix","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","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:75233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75233","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Endocrine","Gastroenterology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Endocrine","Gastroenterology","Pediatrics"],"Account":["Lysosomal"]},"synonyms":["acid cholesteryl ester hydrolase deficiency, wolman type"," acid esterase deficiency"," acid lipase deficiency"," acid lipase disease"," cholesterol ester hydrolase deficiency, complete"," deficiency of cholesterol esterase and triacylglycerol lipase"," familial visceral xanthomatosis"," lal deficiency, complete"," lipa deficiency, complete"," lysosomal acid lipase deficiency, acute infantile"," lysosomal acid lipase deficiency, complete"," primary familial xanthomatosis"," primary familial xanthomatosis with adrenal calcification"," wold"," wolman disease with hypolipoproteinemia and acanthocytosis"," wolman disease, cesd"," wolman xanthomatosis"," wolman's disease"," wolman's or triglyceride storage type iii disease"," xanthomatosis, familial"],"spanishId":12101,"spanishName":"enfermedad-de-wolman"}