Tuberous sclerosis complex OMIM 191100

In Tuberous sclerosis complex OMIM 191100 (TSC2, OMIM 191100), the master switch sits on the ↑ UP branch ([F] forced below); the healthy state is the ON well. The forced corrective direction is to raise s toward ON branch (polarity: clear). Classification: ✓ Recovers an existing standard. Direction only — no dose, no efficacy magnitude.

The disease maps to an R19 double-well whose corrective lever is read straight off the cusp (barrier 0.5956, γ 1.5435, spinodal 0.7381). The corrective direction is forced [F]; the agent names below are direction-concordant labels at grade [O] (no dose, no efficacy or safety magnitude). This is a research hypothesis offered to experts, not medical advice.

The emergence switch

The switch for Tuberous sclerosis complex OMIM 191100 is an R19 double-well emerged from the real proximal-promoter DNA of TSC2. Its geometry is fixed by measured stiffness γ (never fitted); the numbers below are read directly off that cusp.

emergent axis
↑ UP [F]
healthy branch
ON
lesion
LOF_null
γ (stiffness)
1.5435
barrier
0.5956
spinodal
0.7381
s_on / s_off
1.2424 / -1.2424
fragility
0.02
corrective polarity
clear
forced direction
raise s toward ON branch

Chemistry feasibility (DIRECTION only [O]). small-molecule recrossing of the fold is geometrically harder (barrier 0.5956 at neutral drive; lower barrier = smaller drive to supply). [O] -- no affinity/potency/dose/efficacy asserted.

The derived corrective lever

The cusp forces a corrective direction: raise s toward ON branch. This is the load-bearing output of the framework — it is [F] forced, and it is falsifiable. 2 lever families are derived; the lead is h-restore (drive modulator).

h-restore (drive modulator)sign: decreasegeometric rank 0.02
Mechanism. remove / oppose the drive (clear the accumulating load that pins the disease branch)
Applies to. allele-agnostic (downstream/environmental tilt)
favoured when the switch is fragile -- a small drive shift recrosses the fold
Falsifier. If clearing/opposing the accumulating MTOR does NOT relieve the disease branch in a TSC2 model, the h-restore(clear) lever is refuted for this axis.
gamma-restore (stabiliser / chaperone)sign: Nonegeometric rank 0.00
Mechanism. N/A
Applies to. none (honest exclusion)
EXCLUDED: null allele -- no product to stiffen
Falsifier. If a folding-stabiliser/chaperone does NOT re-deepen the healthy well for a residual TSC2 allele (no rescue that a null allele lacks), the gamma-restore lever is refuted; null alleles are excluded by construction.

Agents mapped onto the lever

✓ Agreement with established practice. The corrective direction derived here (raise s toward ON branch) independently matches an agent already in clinical use for this disease: mTOR inhibitor / rapalogue (everolimus, sirolimus). The geometry recovered known medicine — this is a validation signal for the logic, not a new treatment claim by this kit.
Existing agents whose known action is direction-concordant with the derived lever (status as pinned in the corpus; no dose, no efficacy magnitude).
agent (class)dir.statusphasemap
mTOR inhibitor / rapalogue (everolimus, sirolimus)
Krueger 2010 NEJM 363:1801 (everolimus shrinks SEGA); Bissler 2013 Lancet 381:817 (everolimus, renal angiomyolipoma); French 2016 Lancet 388:2153 (everolimus, TSC seizures); everolimus FDA TSC indications
decreaseapproved4✓ in use
TSC2 gene / function restoration (investigational)
Inoki 2003 Nat Cell Biol 5:578 (tuberin GAP function as the restoration target); investigational, no approved TSC gene therapy
decreaseinvestigational2◇ in trials
⚠ Mechanism-direction only — do not self-administer; no dose (unvalidated; set by a physician / national authority); not an approved use.

Direction-only candidate leads (corpus join)

Each lead is surfaced only because its known mechanism points the same way as the derived lever, and each comes with a source and a falsifier. None is a treatment.

sirolimus (rapamycin)✓ recovered standarddir: decrease · approved
Class. mTORC1 inhibitor (downstream pathway agent)
Mechanism. Forms a complex with FKBP12 that inhibits mTORC1, lowering the constitutive mTOR signalling that is released when the TSC1/TSC2 (hamartin/tuberin) GTPase-activating complex is lost. Direction: decrease / oppose the pathological mTOR drive. Allele scope: agnostic -- acts on mTORC1 downstream of the TSC lesion, independent of the variant. Pathway-specific to mTOR signalling (mapped to tuberous sclerosis complex). The systemic generic is low-cost relative to everolimus, the branded mTOR inhibitor approved for several TSC manifestations.
✓ This is a rediscovery. mTOR inhibition is established standard for tuberous sclerosis manifestations; topical sirolimus is approved for TSC-associated facial angiofibroma, and systemic sirolimus is established (everolimus is the branded approved mTOR inhibitor). Recovered by the direction logic; sirolimus is the low-cost generic instance.
Safety (qualitative; no magnitude). post-marketing safety profile on record (approved mTOR inhibitor; topical sirolimus approved for TSC-associated facial angiofibroma; low-cost generic for the systemic form; qualitative; no magnitude)
Falsifier. If sirolimus (rapamycin) (a pathway decrease agent) clearing/opposing the accumulating load does NOT relieve the UP [F] disease branch in a TSC2 model, the h-restore(clear) direction is refuted for sirolimus (rapamycin) here.
Source: Topical sirolimus (Hyftor) label (TSC angiofibroma); established mTOR-inhibition practice in TSC (everolimus EXIST programme)
⚠ Mechanism-direction only — do not self-administer; no dose (unvalidated; set by a physician / national authority); not an approved use.

Evidence & provenance

What is reproduced vs. cited for this page.
elementgradebasis
R19 switch & cusp geometry (this page)[V] verifiedemerged from measured promoter γ of TSC2; deterministic, 2×sha256 identical
corrective direction[F] forcedforced by the cusp sign; falsifiable (see lever falsifiers)
mapped agents / leads[O] opendirection-concordance only; corpus-pinned (2026-06-21); no dose, no efficacy/safety magnitude

Reading the agent column. VALIDATION SIGNAL -- the agent is already approved / established standard for this disease, so the direction logic recovered known clinical practice. Not a new claim by this kit. GENUINE HYPOTHESIS -- no approved indication for this disease; the direction match is a direction-only, untested [O] lead. Basis field grades the evidence (investigational here / in a related condition / off-label / speculative).