{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.sphingolipidosis","code":"thing-q2309612","url":"https://ver.cy/models/thing/q2309612/","name":"sphingolipidosis","alternateNames":["sea-blue histiocyte syndrome","autosomal recessive cerebellar ataxia with late-onset spasticity","GM2 gangliosidosis","gangliosidosis GM1","GM1 gangliosidosis type 1","gangliosidosis GM3","GM1 gangliosidosis type 2","encephalopathy due to prosaposin deficiency","gangliosidosis","sulfatidosis"],"kind":"thing","status":"published","version":"0.2.0-wave.4","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 inherited metabolic disorders in which defects in sphingolipid metabolism, including defects in degradative enzymes, activator proteins or lipid trafficking, cause sphingolipids to accumulate in cells, damaging the brain, nerves and organs; examples include the GM1 and GM2 gangliosidoses such as Tay-Sachs and Sandhoff disease, and forms with cerebellar ataxia, while GM3 gangliosidosis is a rarer type. Sea-blue histiocyte syndrome can occur in inherited storage disorders or secondary to other disorders and is not uniformly an inherited sphingolipidosis. Sphingolipidoses are types of lipid storage disease, mostly autosomal recessive, ranging from severe infantile to milder later-onset forms, and diagnosis, genetic counselling and specialist care are important, with some treatments available or in trials.","purpose":"Let an agent explain sphingolipidoses in general terms, relay mechanisms involving degradative enzymes, activator proteins or lipid trafficking, examples, inheritance and care from genetics and metabolic medicine sources, describe the named forms, route people to genetic counselling and specialists, and distinguish sphingolipidoses from other lysosomal storage diseases, mucopolysaccharidoses and acquired lipid disorders, without diagnosing individuals.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Underlying defects can affect degradative enzymes, activator proteins or lipid trafficking.","Sphingolipids accumulate in cells.","Neurological damage can occur.","Age of onset varies."],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What sphingolipidoses are.","layers":[{"id":"definition","name":"Definition","description":"Definition.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"What is a sphingolipidosis, and how does it differ from other lysosomal storage diseases, mucopolysaccharidoses and acquired lipid disorders?","kind":"definition"},{"text":"Is a family affected or planning children, in which case genetic counselling and specialist metabolic care are recommended?","kind":"boundary"}]}]},{"id":"forms","name":"Forms","description":"Named forms.","findings":[{"id":"forms-finding","name":"Forms","description":"Forms.","questions":[{"text":"What are the GM1 and GM2 gangliosidoses, Gaucher, Niemann-Pick and Fabry disease?","kind":"definition"},{"text":"Which entry fits the specific disease?","kind":"action"}]}]}]},{"id":"mechanism","name":"Mechanism","description":"Mechanism.","layers":[{"id":"enzymes","name":"Enzymes","description":"Enzyme defects.","findings":[{"id":"enzymes-finding","name":"Enzymes","description":"Enzymes.","questions":[{"text":"How do enzyme defects cause sphingolipid accumulation?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"inheritance","name":"Inheritance","description":"Inheritance.","findings":[{"id":"inheritance-finding","name":"Inheritance","description":"Inheritance.","questions":[{"text":"How are these disorders inherited, and why are some common in certain populations?","kind":"provenance"},{"text":"Which sources are cited?","kind":"provenance"}]}]}]},{"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 diseases diagnosed by enzyme and genetic tests?","kind":"measurement"},{"text":"Which entry fits enzyme assay?","kind":"action"}]}]},{"id":"treatment","name":"Treatment","description":"Treatment approaches.","findings":[{"id":"treatment-finding","name":"Treatment","description":"Treatment.","questions":[{"text":"What treatment approaches such as enzyme replacement exist or are in trials, checked against current sources?","kind":"provenance"},{"text":"Is the information current?","kind":"boundary"}]}]}]},{"id":"context","name":"Context","description":"Support.","layers":[{"id":"screening","name":"Screening","description":"Screening.","findings":[{"id":"screening-finding","name":"Screening","description":"Screening.","questions":[{"text":"How do carrier and newborn screening programmes address these diseases?","kind":"provenance"},{"text":"Is the presentation neutral and attributed?","kind":"boundary"}]}]},{"id":"support","name":"Support","description":"Patient support.","findings":[{"id":"support-finding","name":"Support","description":"Support.","questions":[{"text":"What do patient organisations offer families?","kind":"provenance"},{"text":"Which entry fits lysosomal storage disease?","kind":"action"}]}]}]}]},"agentConduct":{"may":["Explain what sphingolipidoses are and name examples such as Tay-Sachs disease.","Point families to genetic counselling and rare disease patient groups."],"mustNot":["Diagnose a child or adult from symptoms.","Promote unproven treatments or cures for these disorders.","Disclose a person's or family's carrier status without consent.","Use carrier rates to stigmatise particular ethnic or religious groups."],"requiresHuman":["Decisions about testing, treatment or trials for a person.","Reproductive decisions based on carrier status."]},"ethics":{"considerations":["These disorders often take children's lives; families are vulnerable to false hope.","Carrier screening touches communities with histories of discrimination."],"affectedParties":["Affected children and adults","Families and carriers","Communities with higher carrier rates"]},"owners":{"steward":"The person and their clinical team; rare disease registries hold research records.","roles":[],"masterSystems":["Rare disease registries"]},"relations":[{"target":"Q3540902","type":"parent","note":"registry parent class"},{"target":"lipid storage disease","type":"related","note":"in registry terms"},{"target":"Tay-Sachs disease","type":"related"},{"target":"mucopolysaccharidosis","type":"related"},{"target":"lysosomal storage disease","type":"related","note":"related"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.sphingolipidosis","Wikidata: Q2309612 (https://www.wikidata.org/wiki/Q2309612)"]},"properties":{"applicability":"not-applicable","items":["inheritance: mostly autosomal recessive note","examples: Tay-Sachs, Sandhoff, Gaucher, Niemann-Pick, Fabry, Krabbe list","registry parent: lipid storage disease note"]},"recognition":{"applicability":"optional","items":["Sphingolipidoses are inherited sphingolipid storage disorders.","Examples include GM2 gangliosidosis, GM1 gangliosidosis, GM1 gangliosidosis type 1, GM3 gangliosidosis and forms with cerebellar ataxia and late-onset spasticity.","Sea-blue histiocyte syndrome can accompany inherited storage disorders or occur secondary to other disorders and does not alone identify a sphingolipidosis.","Other lysosomal storage diseases affect different substrates, mucopolysaccharidoses involve glycosaminoglycan storage, and acquired lipid disorders do not establish an inherited sphingolipid metabolism defect.","Not a single appearance; identified through symptoms, enzyme tests and genetics."]},"capabilities":{"applicability":"required","items":["explain mechanism","relay examples and inheritance","describe named forms","route to genetic counselling"]},"hazards":{"applicability":"required","items":["Missing early diagnosis","Unproven treatment claims","Genetic counselling gaps"]},"interfaces":{"applicability":"required","items":["Newborn and carrier screening programmes","Orphan drug regulations for enzyme therapies"]},"context":{"applicability":"required","items":["Not applicable; a group of genetic metabolic diseases.","gangliosidoses","Gaucher disease","Niemann-Pick disease","Fabry disease","Krabbe and metachromatic leukodystrophy"]}},"sources":[{"title":"Wikidata item Q2309612: sphingolipidosis","url":"https://www.wikidata.org/wiki/Q2309612","note":"identity and sense of the item"},{"title":"Wikipedia: Sphingolipidoses","url":"https://en.wikipedia.org/wiki/Sphingolipidoses","note":"general description of the item"}],"openQuestions":["Should each disease be a separate entry?","How should enzyme and gene databases be linked?","How should treatment status be kept current?"],"resources":{"spec":"/models/things/publications/thing-q2309612/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q2309612/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-14T02:10:49Z","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 2026-10-07T10:10:28+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}}