{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.mitochondrial-disease","code":"thing-q935710","url":"https://ver.cy/models/thing/q935710/","name":"mitochondrial disease","alternateNames":["hypotonia-cystinuria syndrome type 1","mitochondrial optic neuropathies","mitochondrial disease with eye involvement","mitochondrial pyruvate carrier deficiency","mitochondrial oxidative phosphorylation disorder","mitochondrial disease with dilated cardiomyopathy","mitochondrial disease with epilepsy","mitochondrial disease with peripheral neuropathy","sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome","Leigh disease","fatal infantile encephalocardiomyopathy","mitochondrial complex III deficiency"],"kind":"thing","status":"published","version":"0.2.0-wave.2","language":"en","classifiers":{"family":"Thing Registry","category":"Activities and processes","entryKind":"thing","plane":"ACT","domain":["ACT.PRC"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A group of disorders caused by dysfunction of mitochondria, the energy-producing structures of cells, arising from mutations in mitochondrial DNA or in nuclear genes that support mitochondria, and affecting tissues with high energy demand such as muscle, brain, heart, eyes and liver in conditions including mitochondrial optic neuropathies, oxidative phosphorylation disorders and cardiomyopathies; mitochondrial diseases are rare, varied and often inherited maternally, and are diagnosed by genetic and biochemical testing.","purpose":"Let an agent explain mitochondrial diseases and their genetic basis and forms in general terms, relay diagnosis, management and inheritance information from health bodies, support patients and families with attributed resources, and route personal medical questions to clinicians.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Energy metabolism","Maternal inheritance in many cases","Multisystem","Rare and varied"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What mitochondrial diseases are.","layers":[{"id":"concept","name":"Concept","description":"Concept and genetics.","findings":[{"id":"concept-finding","name":"Concept","description":"Concept.","questions":[{"text":"What are mitochondrial diseases, and how do mitochondrial DNA and nuclear gene mutations cause them?","kind":"definition"},{"text":"Is the user asking about their own or a family member condition, which needs a clinician?","kind":"boundary"}]}]},{"id":"forms","name":"Forms","description":"Forms and symptoms.","findings":[{"id":"forms-finding","name":"Forms","description":"Forms.","questions":[{"text":"What forms exist, such as optic neuropathies and cardiomyopathies, and what symptoms do health bodies describe?","kind":"provenance"},{"text":"Which entry fits a specific syndrome?","kind":"action"}]}]}]},{"id":"manage","name":"Manage","description":"Diagnosis and management.","layers":[{"id":"diagnosis","name":"Diagnosis","description":"Diagnosis.","findings":[{"id":"diagnosis-finding","name":"Diagnosis","description":"Diagnosis.","questions":[{"text":"How are mitochondrial diseases diagnosed through genetic and biochemical testing, in general terms?","kind":"provenance"},{"text":"Which entry fits genetic testing?","kind":"action"}]}]},{"id":"management","name":"Management","description":"Management.","findings":[{"id":"management-finding","name":"Management","description":"Management.","questions":[{"text":"What management and supportive care do guidelines describe, and what is the evidence for treatments?","kind":"provenance"},{"text":"Is the presentation free of unproven treatment claims?","kind":"boundary"}]}]}]},{"id":"family","name":"Family","description":"Inheritance and families.","layers":[{"id":"inheritance","name":"Inheritance","description":"Inheritance.","findings":[{"id":"inheritance-finding","name":"Inheritance","description":"Inheritance.","questions":[{"text":"How are mitochondrial diseases inherited, and what is the role of genetic counselling?","kind":"provenance"},{"text":"Which entry fits genetic counselling?","kind":"action"}]}]},{"id":"donation","name":"Donation","description":"Mitochondrial donation.","findings":[{"id":"donation-finding","name":"Donation","description":"Donation.","questions":[{"text":"What are mitochondrial donation techniques, and how are they regulated and debated, with positions attributed?","kind":"provenance"},{"text":"Is the presentation neutral?","kind":"boundary"}]}]}]},{"id":"learn","name":"Learn","description":"Research and teaching.","layers":[{"id":"research","name":"Research","description":"Research.","findings":[{"id":"research-finding","name":"Research","description":"Research.","questions":[{"text":"What research is under way, and which patient organisations and registries exist?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"teach","name":"Teach","description":"Teaching.","findings":[{"id":"teach-finding","name":"Teach","description":"Teaching.","questions":[{"text":"How can mitochondrial disease be taught in genetics and medicine?","kind":"action"},{"text":"Which misconceptions arise?","kind":"provenance"}]}]}]}]},"agentConduct":{"may":["Explain what mitochondrial diseases are and how they are inherited in general terms.","Point patients and families to specialist clinics and patient organisations."],"mustNot":["Diagnose a mitochondrial disease or interpret genetic results in place of a specialist.","Recommend unproven supplements or cures as treatment.","Make reproductive recommendations to a family without a genetic counsellor.","Share a person's genetic findings without consent, including with relatives."],"requiresHuman":["Communicating a genetic diagnosis to a family.","Decisions about reproductive options for carriers."]},"ethics":{"considerations":["Mitochondrial diseases are often severe in children and have few treatments.","Inherited conditions involve the privacy of relatives, especially the maternal line."],"affectedParties":["Patients and their families","Carriers and prospective parents","Children"]},"owners":{"steward":"The patient; specialist clinicians and genetic services answer for diagnosis and care.","roles":[],"masterSystems":["Rare disease patient registries"]},"relations":[{"target":"Q3537727","type":"parent","note":"registry parent class"},{"target":"Q55785399","type":"parent","note":"registry parent class"},{"target":"Q55788564","type":"parent","note":"registry parent class"},{"target":"inborn disorder of energy metabolism","type":"related","note":"category"},{"target":"developmental anomaly of metabolic origin","type":"related","note":"category"},{"target":"muscular dystrophy","type":"related","note":"another group of muscle disorders"},{"target":"DNA replication","type":"related","note":"replication of mitochondrial DNA"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.mitochondrial-disease","Wikidata: Q935710 (https://www.wikidata.org/wiki/Q935710)"]},"properties":{"applicability":"not-applicable","items":[]},"recognition":{"applicability":"optional","items":["Dysfunction of mitochondria","Mitochondrial or nuclear gene mutations","Other metabolic disorders affect different pathways","Not visible; clinical presentations vary."]},"capabilities":{"applicability":"required","items":["explain genetic basis and forms","relay diagnosis and management information","support families with resources","route personal questions"]},"hazards":{"applicability":"required","items":["Agents giving personal diagnosis or treatment advice","Unproven treatments","Confusing mitochondrial with other metabolic diseases"]},"interfaces":{"applicability":"required","items":["Clinical guidelines for mitochondrial disease","Genetic testing and counselling standards","Regulation of mitochondrial donation techniques"]},"context":{"applicability":"required","items":["Disorders of cellular energy production.","mitochondrial DNA disorders","nuclear gene mitochondrial disorders","mitochondrial optic neuropathies","oxidative phosphorylation disorders","mitochondrial cardiomyopathies and myopathies"]}},"sources":[{"title":"Wikidata item Q935710: mitochondrial disease","url":"https://www.wikidata.org/wiki/Q935710","note":"identity and sense of the item"},{"title":"Wikipedia: Mitochondrial disease","url":"https://en.wikipedia.org/wiki/Mitochondrial_disease","note":"general description of the item"}],"openQuestions":["Should specific syndromes be separate entries?","How should patient organisations be linked?","How should research registries be linked?"],"resources":{"spec":"/models/things/publications/thing-q935710/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q935710/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-12T05:08:45Z","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 2026-10-06T19:52:03+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane ACT: no invented physical properties."},"score":1.0}}