{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.lysosomal-storage-disease","code":"thing-q675010","url":"https://ver.cy/models/thing/q675010/","name":"lysosomal storage disease","alternateNames":["cephalin lipidosis","lysosomal storage disease with skeletal involvement","neutral lipid storage disease","lysosomal acid phosphatase deficiency","lipid storage disease","disorder of sialic acid metabolism","neutral lipid storage myopathy","lysosomal and lipase deficiency"],"kind":"thing","status":"published","version":"0.2.0-wave.3","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A group of about 70 inherited metabolic disorders caused by deficient lysosomal enzymes or transport proteins, leading to accumulation of undegraded substrates in cells, including lipid storage diseases such as Gaucher, Niemann-Pick and Fabry disease, mucopolysaccharidoses with skeletal involvement, disorders of sialic acid metabolism, lysosomal acid phosphatase deficiency and historical categories such as cephalin lipidosis; many are treated with enzyme replacement, substrate reduction or transplantation, and people affected should be under the care of specialists. Neutral lipid storage disease involves cytoplasmic lipid droplets and is not a lysosomal storage disease.","purpose":"Let an agent explain lysosomal storage diseases as a group, relay classification, mechanisms and treatments from medical references in general terms, route people with symptoms or diagnoses to specialists and patient organisations, and distinguish lysosomal disorders from other inborn errors of metabolism.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Lysosomal enzyme deficiency","Substrate accumulation","Mostly recessive","Treatable subset"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What these diseases are.","layers":[{"id":"definition","name":"Definition","description":"Definition and mechanism.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"What are lysosomal storage diseases, and how do enzyme deficiencies cause storage?","kind":"definition"},{"text":"Is the user asking about their own or a family member s diagnosis, which needs a specialist?","kind":"boundary"}]}]},{"id":"groups","name":"Groups","description":"Subgroups.","findings":[{"id":"groups-finding","name":"Groups","description":"Groups.","questions":[{"text":"What are the sphingolipidoses, mucopolysaccharidoses, sialic acid disorders and other subgroups?","kind":"definition"},{"text":"Which entry fits the specific disorder?","kind":"action"}]}]}]},{"id":"care","name":"Care","description":"Diagnosis and treatment.","layers":[{"id":"diagnosis","name":"Diagnosis","description":"Diagnosis.","findings":[{"id":"diagnosis-finding","name":"Diagnosis","description":"Diagnosis.","questions":[{"text":"How are these disorders diagnosed with enzyme assays, genetics and newborn screening, in general terms?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"treatment","name":"Treatment","description":"Treatment.","findings":[{"id":"treatment-finding","name":"Treatment","description":"Treatment.","questions":[{"text":"What treatments exist, from enzyme replacement to substrate reduction and gene therapy, as reported?","kind":"provenance"},{"text":"Which sources are cited?","kind":"provenance"}]}]}]},{"id":"support","name":"Support","description":"Support.","layers":[{"id":"organisations","name":"Organisations","description":"Patient organisations.","findings":[{"id":"organisations-finding","name":"Organisations","description":"Organisations.","questions":[{"text":"Where can families find patient organisations and specialist centres?","kind":"action"},{"text":"Which entry fits rare disease organisations?","kind":"action"}]}]},{"id":"genetics","name":"Genetics","description":"Inheritance.","findings":[{"id":"genetics-finding","name":"Genetics","description":"Genetics.","questions":[{"text":"How are these disorders inherited, and what is genetic counselling, in general terms?","kind":"provenance"},{"text":"Is the user seeking personal counselling, which needs a professional?","kind":"boundary"}]}]}]},{"id":"context","name":"Context","description":"Research and history.","layers":[{"id":"research","name":"Research","description":"Research.","findings":[{"id":"research-finding","name":"Research","description":"Research.","questions":[{"text":"What research directions exist, with findings attributed?","kind":"provenance"},{"text":"Which entry fits gene therapy?","kind":"action"}]}]},{"id":"history","name":"History","description":"History.","findings":[{"id":"history-finding","name":"History","description":"History.","questions":[{"text":"How were lysosomes and these disorders discovered, from de Duve to enzyme therapy?","kind":"provenance"},{"text":"Which entry fits lysosome?","kind":"action"}]}]}]}]},"agentConduct":{"may":["Describe lysosomal storage diseases and their main groups in general terms.","Point people to genetic counselling, specialist centres and patient organisations."],"mustNot":["Diagnose a person or child from described symptoms.","Recommend or discourage a specific enzyme replacement or other treatment for a person.","Present outdated treatment information as current.","Disclose a person's or family's genetic diagnosis without consent."],"requiresHuman":["Decisions about testing, treatment or family planning."]},"ethics":{"considerations":["These rare diseases often go undiagnosed for years; misinformation adds to the delay.","Genetic diagnoses affect whole families and can lead to discrimination."],"affectedParties":["Patients and families","Carriers","Rare disease clinicians"]},"owners":{"steward":"The patient owns their diagnosis; clinicians and rare disease registries hold the records.","roles":[],"masterSystems":["Rare disease patient registries"]},"relations":[{"target":"Q1496114","type":"parent","note":"registry parent class"},{"target":"overload disease","type":"related","note":"in registry terms"},{"target":"inborn error of metabolism","type":"related","note":"in general terms"},{"target":"Gaucher disease","type":"related","note":"the most common"},{"target":"enzyme replacement therapy","type":"related","note":"for several disorders"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.lysosomal-storage-disease","Wikidata: Q675010 (https://www.wikidata.org/wiki/Q675010)","ICD-10: E75-E77 disorders of sphingolipid and glycoprotein metabolism","MeSH: D016464 Lysosomal Storage Diseases"]},"properties":{"applicability":"not-applicable","items":["known disorders: about 70 count","combined incidence: about 1 in 5000 births - estimates","first enzyme replacement therapy: 1991 year - Gaucher disease"]},"recognition":{"applicability":"optional","items":["These are inherited disorders of lysosomal breakdown.","Examples include Gaucher disease, Fabry disease, Niemann-Pick disease, mucopolysaccharidoses, lysosomal sialic acid disorders and lysosomal acid phosphatase deficiency.","Other inborn errors affect mitochondria, peroxisomes or cytosolic pathways, while neutral lipid storage disease involves cytoplasmic lipid droplets rather than lysosomal storage.","Not a visible object; clinical features vary by disorder."]},"capabilities":{"applicability":"required","items":["explain the group and mechanism","relay classification and treatments","route to specialists","distinguish related disorders"]},"hazards":{"applicability":"required","items":["Diagnostic delay","Agents giving personal medical advice","Stale treatment information"]},"interfaces":{"applicability":"required","items":["Orphan drug regulations","Newborn screening programmes in some regions","Clinical guidelines for specific disorders"]},"context":{"applicability":"required","items":["Not applicable; a disease group.","sphingolipidoses such as Gaucher, Fabry and Niemann-Pick","mucopolysaccharidoses with skeletal involvement","glycoproteinoses and sialic acid disorders","lipid storage diseases including neutral lipid storage disease","lysosomal acid phosphatase deficiency and rare enzyme deficiencies","lysosomal transport defects"]}},"sources":[{"title":"Wikidata item Q675010: lysosomal storage disease","url":"https://www.wikidata.org/wiki/Q675010","note":"identity and sense of the item"},{"title":"Wikipedia: Lysosomal storage disease","url":"https://en.wikipedia.org/wiki/Lysosomal_storage_disease","note":"general description of the item"}],"openQuestions":["Should individual disorders be the primary linked entries?","How should medical references be linked?","The registry entry has merged aliases naming subgroups and historical terms; should they be split off?"],"resources":{"spec":"/models/things/publications/thing-q675010/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q675010/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-13T07:07:43Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-07T10:10:32+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}