channelopathy
Enable an agent to recognise a suspected or established channelopathy, record the evidence connecting ion-channel dysfunction to disease, and identify appropriate subtype-specific assessment and management pathways.
Bundle → Layer → Finding → Questions Filled
6 bundles · 11 layers · 19 findings · 29 questions
Disease class and boundaries Establish what qualifies as channelopathy and how this umbrella entry relates to named disorders.
Causal definition
Define the causal role required of channel dysfunction.
Channel dysfunction causes disease
Use disease caused by ion-channel dysfunction as the core definition, with genetic and acquired causes represented. Record the authority and any narrower specialist usage. [Channelopathies](https://pmc.ncbi.nlm.nih.gov/articles/PMC3935107/)
- Which definition and authority justify calling this disorder a channelopathy? definition
- What evidence makes channel dysfunction causal rather than an associated or downstream change? boundary
Umbrella and subtype relations
Link the class to specific diseases without replacing their diagnostic models.
Subtype-specific membership
Record the named syndrome and channel-related subtype separately from broader phenotype labels such as epilepsy or arrhythmia.
- Which specific disease or subtype is being classified under channelopathy? definition
- Does the evidence support channelopathy for this subtype, or only for some causes of the broader syndrome? boundary
Causal origin and attribution Represent genetic and acquired explanations with their supporting evidence.
Genetic attribution
Connect a genetic finding to the disease without treating detection as proof.
Variant-to-disease link
Record the implicated gene and variant, classification source and date, zygosity, inheritance evidence and phenotype fit as distinct assertions.
- What report or curated assessment supports the variant's disease relevance, and when was it assessed? provenance
- How do inheritance, segregation and the observed phenotype support or weaken attribution in this case? boundary
Acquired attribution
Assess external or immune-mediated mechanisms and their relationship to channel function.
Acquired channel disruption
Record the proposed immune target, exposure or other acquired cause, its timing and the evidence linking it to channel dysfunction rather than merely to similar symptoms.
- What evidence connects the proposed acquired cause to the implicated channel system? provenance
- Is this primarily acquired dysfunction, an acquired trigger of genetic susceptibility, or an unresolved combination? boundary
Channel mechanism and tissue effects Connect the affected molecular system to an experimentally supported functional change and physiological consequence.
Molecular functional defect
Describe which channel property is altered and how it was established.
Function beyond gene name
Distinguish altered gating, conductance, selectivity, expression and trafficking; retain mixed or unresolved mechanisms where a single gain-or-loss label is inadequate.
- Which channel property is altered, relative to which comparator and under which assay conditions? measurement
- Was the mechanism measured for this variant or acquired process, or inferred from other evidence? provenance
Tissue-level consequences
Translate channel changes into the processes affected in relevant cells and organs.
Mechanism-to-phenotype bridge
Record the proposed bridge from channel dysfunction to altered excitability, transport or secretion, including tissue context and limits of experimental extrapolation.
- Which affected cell types and physiological processes explain the clinical manifestations? definition
- What evidence supports applying the experimental finding to the patient's relevant tissue and developmental stage? boundary
Clinical expression and recognition Capture phenotype, temporal behaviour and the evidence required to distinguish channelopathy from its mimics.
Episodes, triggers and baseline
Represent attacks and persistent manifestations separately.
Temporal phenotype
Record onset, episode frequency and duration, recovery, interepisode findings and candidate triggers such as exertion, rest after exertion, temperature or medication exposure where relevant to the subtype.
- What occurs during episodes, how long does it last, and which abnormalities remain between episodes? measurement
- Which suspected triggers recur consistently, and what evidence supports more than a coincidental association? provenance
Diagnostic convergence
Evaluate the combined clinical, physiological, molecular and exposure evidence.
Concordant and conflicting evidence
Record the criteria used, test conditions, competing diagnoses and discordant results; distinguish an unperformed investigation from a negative result.
- Which subtype-specific criteria are met, unmet or unassessed, and under what testing conditions? measurement
- Which alternative explanations remain plausible, and what evidence would distinguish them? boundary
Risk and management constraints Connect the established subtype and current evidence to appropriate clinical review, monitoring and intervention constraints.
Subtype-specific risk
Separate current symptom burden from clinically assessed risks.
Risk-linked escalation
Record subtype-relevant serious outcomes, documented risk indicators and the applicable escalation plan, with its clinical source and review date.
- Which serious outcomes are relevant to this subtype, and what case-specific evidence informs their assessment? provenance
- Which observed changes meet the documented criteria for urgent clinical assessment? action
Mechanism-informed care
Constrain proposed actions by the syndrome, functional evidence and clinical authority.
Action evidence and follow-up
Link proposed interventions, exposure precautions and family evaluation to subtype-specific evidence; record response and adverse effects without treating response alone as diagnostic proof.
- Which current clinical source supports the proposed action for this syndrome and mechanism, and what uncertainty limits its use? action
- What monitoring, reassessment or family evaluation is indicated by the documented clinical plan? action
Evidence and external alignment What the world already says about this thing, gathered so the model can be checked against it.
Reported evidence
Findings from the breadth pass, kept separate from the structural claims.
Check these first
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these check these first hold for the sense of channelopathy this model covers, and on what evidence? provenance
Kinds and varieties
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these kinds and varieties hold for the sense of channelopathy this model covers, and on what evidence? provenance
Identifiers and schemes
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these identifiers and schemes hold for the sense of channelopathy this model covers, and on what evidence? provenance
Standards and regulation
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these standards and regulation hold for the sense of channelopathy this model covers, and on what evidence? provenance
Real-world use
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these real-world use hold for the sense of channelopathy this model covers, and on what evidence? provenance
Typical measurements
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these typical measurements hold for the sense of channelopathy this model covers, and on what evidence? provenance
Failure modes and hazards
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these failure modes and hazards hold for the sense of channelopathy this model covers, and on what evidence? provenance
Regional variation
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these regional variation hold for the sense of channelopathy this model covers, and on what evidence? provenance
Neighbouring kinds and how to tell them apart
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these neighbouring kinds and how to tell them apart hold for the sense of channelopathy this model covers, and on what evidence? provenance
Classifiers Filled
- Family
- Thing Registry
- Category
- Cross-cutting context
- Entry kind
- thing
- Plane
- XCT
- Domain
- XCT.STA
- Other names and narrower kinds
- episodic ataxia type 1, episodic ataxia type 2, hyperkalemic periodic paralysis, paramyotonia congenita, calciumopathy
What it is Filled
A channelopathy is a disorder in which altered ion-channel function, expression, or regulation plays a primary causal role, through inherited or acquired mechanisms.
In scope
- Disease attribution to dysfunctional ion channels, including relevant channel-associated proteins
- Inherited, de novo and acquired origins, with explicit uncertainty
- Channel dysfunction mechanisms and their tissue-specific consequences
- Clinical manifestations, episode patterns, triggers and interepisode state
- Diagnostic evidence, competing explanations and subtype-specific action constraints
Out of scope
- Complete molecular models of ion channels and their normal physiology
- Standalone genetic variant classification and laboratory assay specifications
- Full models of individual channelopathy syndromes
- Complete patient histories and clinical encounter records
- General models of epilepsy, arrhythmia, weakness or electrolyte disturbance without established channel involvement
- Drug monographs, prescribing protocols and treatment dosing
Why it exists Filled
Enable an agent to recognise a suspected or established channelopathy, record the evidence connecting ion-channel dysfunction to disease, and identify appropriate subtype-specific assessment and management pathways.
Distinguishing features Filled
- Require evidence that channel dysfunction contributes causally to disease; the presence of an ion-channel gene variant alone does not establish a channelopathy.
- Distinguish the disease from an isolated channel abnormality observed in an experimental assay without a demonstrated clinical relationship.
- Do not identify channelopathy solely from seizures, arrhythmia or episodic weakness; record the evidence separating channel-mediated disease from competing causes.
- Distinguish inherited channel dysfunction from acquired dysfunction and from incidental channel changes secondary to another disease.
- Do not restrict recognition to electrically excitable tissues: the class also includes disorders involving epithelial transport and secretion. [Channelopathies](https://pmc.ncbi.nlm.nih.gov/articles/PMC3935107/)
What robots and AI may and may not do Filled
Must not
- Diagnose a channelopathy or rule it out without qualified testing.
- Suggest medicines without checking that a clinician has cleared them for the patient's condition.
- Share genetic test results without consent.
- Tell relatives about a hereditary condition without the patient's consent.
Only with a human decision
- Genetic testing of relatives or children.
- Decisions about implanted devices or other treatment.
May
- Explain channelopathies in general terms from medical sources.
- Help patients keep records of symptoms and medications to share with clinicians.
Moral aspects Filled
- Many channelopathies are inherited, raising questions for whole families.
- Some cause sudden death in young people, which makes screening ethically charged.
Who is affected
- Patients
- Family members
- Children
Owners Filled
Steward
The patient with their clinicians; rare disease registries record cases in some countries.
Master systems
- Rare disease registries
Links to other meta-models Filled
parent
- Q2113512 - registry parent class
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.channelopathy
- Wikidata: Q2936142 (https://www.wikidata.org/wiki/Q2936142)
Direct properties not applicable Not applicable
- Channelopathy attribution status: suspected | supported | established under named criteria | disputed | excluded
- Affected channel system: Named channel complex, pore-forming subunit, accessory protein or regulator; unresolved permitted
- Affected ion conductance: sodium | potassium | calcium | chloride | mixed-ion | other specified | unresolved
- Causal origin: genetic inherited | genetic de novo | genetic inheritance unresolved | acquired immune-mediated | acquired drug- or toxin-associated | other specified | mixed | unknown
- Functional alteration: gain of function | loss of function | mixed | context-dependent | unresolved; specify affected property
- Affected tissue and physiological process: Named tissues linked to processes such as excitability, repolarisation, epithelial transport or secretion
- Clinical temporal pattern: episodic | persistent | progressive | mixed | presymptomatic | unresolved
- Episode burden: episodes per stated observation period; duration in seconds, minutes or hours; observation method required
- Functional assay result: Assay-specific values such as current density in pA/pF, voltage dependence in mV or gating kinetics in ms, with comparator and conditions
- Phenotype-linked physiological result: Subtype-specific measurement and unit, such as QTc in ms or sweat chloride in mmol/L; method and reference criteria required
- Current clinical state: asymptomatic at assessment | stable manifestations | active episode | deteriorating | unknown; timestamp required
Plane XCT: no invented physical properties.
Recognition not applicable Not applicable
Not applicable
Ion-channel dysfunction cannot be identified visually, and outward symptoms do not reliably distinguish channelopathies from other disorders.
Capabilities and actions required Filled
- Build an evidence-linked hypothesis connecting a channel system, functional disturbance and clinical phenotype.
- Compare inherited, acquired and non-channel explanations for the observed disorder.
- Identify missing subtype-specific investigations for clinician review.
- Track episodes and candidate triggers while distinguishing temporal association from demonstrated causation.
- Retrieve management constraints relevant to the named syndrome and established mechanism.
- Flag documented indications for urgent assessment or family evaluation using the applicable clinical pathway.
Hazards and failure modes required Filled
- Some heart channelopathies cause sudden cardiac death.
- Ordinary medicines can trigger attacks in some patients.
Standards and interfaces required Filled
- The International Classification of Diseases, issued by the World Health Organization, classifies specific channelopathy-related diagnoses according to the disorder and classification edition.
Context of use required Filled
- Channelopathies are encountered in clinical medicine and biomedical research when ion-channel dysfunction helps explain a disease.
- The concept connects disorders affecting different organs, including the nervous system, skeletal muscles and heart, while assessment depends on the specific disorder.
Sources Filled
- Wikidata item Q2936142: channelopathy - identity and sense of the item
- Wikipedia: Channelopathy - general description of the item
Open questions
- Which authoritative definition should govern whether disorders of channel-associated proteins, water channels and intracellular channels fall within this registry entry?
- What evidence threshold should distinguish a causal acquired channelopathy from secondary channel remodelling in another disease?
- Which subtype-specific authorities and criteria should govern attribution when clinical, genetic and functional evidence disagree?
- How should mixed or tissue-dependent functional effects be represented when a gain-of-function or loss-of-function label is misleading?
- Which existing Vercy disease and world models already cover channelopathy subtypes and should be linked as the source of truth?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q2936142/spec.json