{"Name":"Sphingomyelin/cholesterol lipidosis","DiseaseID__c":"GARD:0013334","id":13334,"encodedName":"sphingomyelincholesterol-lipidosis","IsDeleted":false,"Disease_Name_Full__c":"Sphingomyelin/cholesterol lipidosis","Xref_IDs__c":"58459009; C0028064; C61269; D009542; DOID:14504; E75.24; MEDGEN:10348; MONDO:0001982","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0001982","Disease_Description__c":"A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.","GARD_Name__c":"Sphingomyelin/cholesterol lipidosis","GARD_Synonym__c":"lipoid histiocytosis; lipoid histiocytosis (classical phosphatide); neuronal cholesterol lipidosis; niemann-pick disease; niemann-pick disease with cholesterol esterification block; niemann-pick disease, subacute juvenile form; sphingomyelin lipidosis; sphingomyelinase deficiency; sphingomyelinase deficiency disease","Curated_Disease_Description_Source__c":"GARD:0013334","Curated_Disease_Description__c":"\"Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. Inheritance is autosomal recessive. Niemann-Pick disease is divided into four main types according to the altered (mutated) gene and the signs and symptoms: Type A, caused by genetic changes in the SMPD1 gene. It is the most severe form, occurs in early infancy and is seen primarily in Jewish families. Type B , caused by genetic changes in the SMPD1 gene. Usually occurs in children, and affects the liver, spleen and lungs (visceral form), but generally does not affect the brain. Type C1, caused by genetic changes in the NPC1 gene. May occur at any age and affect the brain and the viscera. Type C2, caused by homozygous genetic change in the NPC2 gene. Similar to type C1, but more severe, and mostly affecting the lungs. Some classify type A and B as \"\"acid sphingomyelinase (ASM) deficiency\"\". NP type D is now considered as type C (when affected people are from Nova Scotia, Canada); other rarer types have being described.\"","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0001982","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"\"Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. Inheritance is autosomal recessive. Niemann-Pick disease is divided into four main types according to the altered (mutated) gene and the signs and symptoms: Type A, caused by genetic changes in the SMPD1 gene. It is the most severe form, occurs in early infancy and is seen primarily in Jewish families. Type B , caused by genetic changes in the SMPD1 gene. Usually occurs in children, and affects the liver, spleen and lungs (visceral form), but generally does not affect the brain. Type C1, caused by genetic changes in the NPC1 gene. May occur at any age and affect the brain and the viscera. Type C2, caused by homozygous genetic change in the NPC2 gene. Similar to type C1, but more severe, and mostly affecting the lungs. Some classify type A and B as \"\"acid sphingomyelinase (ASM) deficiency\"\". NP type D is now considered as type C (when affected people are from Nova Scotia, Canada); other rarer types have being described.\"","Curated_Disease_Description_Source__c":"GARD:0013334","GARD_Synonym__c":"lipoid histiocytosis; lipoid histiocytosis (classical phosphatide); neuronal cholesterol lipidosis; niemann-pick disease; niemann-pick disease with cholesterol esterification block; niemann-pick disease, subacute juvenile form; sphingomyelin lipidosis; sphingomyelinase deficiency; sphingomyelinase deficiency disease","Name":"Sphingomyelin/cholesterol lipidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lysosomal Storage Disorders Support Society","Website__c":"https://lsdssindia.org/"},{"Account_Name__c":"National Niemann-Pick Disease Foundation, Inc.","Website__c":"https://nnpdf.org/"},{"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":"Niemann-Pick UK","Website__c":"https://www.npuk.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":"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"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/ASM"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0028064"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009542","Source__c":"C0028064; MONDO:0001982","Xref__c":"D009542"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61269","Source__c":"C0028064; MONDO:0001982","Xref__c":"C61269"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58459009","Source__c":"C0028064; MONDO:0001982","Xref__c":"58459009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0028064","Source__c":"C0028064","Xref__c":"C0028064"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14504","Source__c":"MONDO:0001982","Xref__c":"DOID:14504"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10348","Source__c":"C0028064","Xref__c":"MEDGEN:10348"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E75.24","Source__c":"MONDO:0001982","Xref__c":"E75.24"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0001982","Source__c":"GARD:0013334","Xref__c":"MONDO:0001982"},{"URL__c":"https://medlineplus.gov/genetics/condition/niemann-pick-disease"},{"URL__c":"https://medlineplus.gov/genetics/condition/niemann-pick-disease","Source__c":"GARD:0013334","Xref__c":"https://medlineplus.gov/genetics/condition/niemann-pick-disease"}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["lipoid histiocytosis"," lipoid histiocytosis (classical phosphatide)"," neuronal cholesterol lipidosis"," niemann-pick disease"," niemann-pick disease with cholesterol esterification block"," niemann-pick disease, subacute juvenile form"," sphingomyelin lipidosis"," sphingomyelinase deficiency"," sphingomyelinase deficiency disease"],"spanishId":13510,"spanishName":"enfermedad-de-niemann-pick"}