Disease overview
Alterations
49
Molecular (A)
0
Clinical (B–E)
49
Direct drugs
0
Via biomarker
0
Natural agents
0
Natural products
0
Merged ranked
24
Right to Try Relevance
Eligibility: This disease meets the federal and state right-to-try legal standard (21 U.S.C. § 360bbb-0a and Montana SB 535): it lacks disease-modifying therapy with indication-specific FDA approval. Patients with Mast Cell Activation Syndrome may be eligible to access investigational therapies outside of clinical trials under right-to-try frameworks.
Investigational Agents
0
No investigational agents
Most Advanced Phase
Phase 0
Highest dev. stage
Gene Targets
49
Actionable
Pipeline Compounds (Top 6)
None identified
Legal Standard: Right-to-try requires the disease lacks "adequate approved therapy for that specific disease" (not symptom-management drugs). This distinction means a disease with antidepressants available still qualifies if no FDA approval exists for THAT disease indication.
View Right-to-Try Compendium
Alterations
49 total · Types A (molecular) through E (functional)
| Name | Type | Subtype | Direction | Frequency | Evidence | Sources | Links |
|---|---|---|---|---|---|---|---|
| Abnormal abdomen morphology | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Anteverted nares | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Aplasia/Hypoplasia of the cerebellar vermis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Ataxia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Cerebellar vermis hypoplasia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Cirrhosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Coloboma | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Dystonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Elevated circulating hepatic transaminase concentration | Lab / Clinical | Lab value | — | — | Moderate | HPO, Monarch | HPO |
| Encephalocele | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Esophageal varix | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Generalized hypotonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Global developmental delay | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Growth delay | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hepatic fibrosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hepatomegaly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hyperreflexia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypertelorism | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypertension | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypotonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Intrahepatic bile duct dilatation | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Moderate intellectual disability | Functional | Functional test | — | — | Moderate | HPO, Monarch | HPO |
| Molar tooth sign on MRI | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Multiple small medullary renal cysts | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Nephronophthisis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Nystagmus | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Occipital encephalocele | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Oculomotor apraxia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Optic disc pallor | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Portal hypertension | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Postaxial hand polydactyly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Ptosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Renal cyst | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Round face | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Seizure | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Spasticity | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Splenomegaly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Stage 5 chronic kidney disease | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Unilateral renal agenesis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Vascular dilatation | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Wide mouth | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Duration of Response | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Effectiveness of caregiver massage to reduce child and caregiver distress and promote child health-related quality of life | Scales & PROs | Clinical scale | — | — | Emerging | ClinicalTrials.gov | — |
| Incidence of Graft Rejection | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Incidence of Non-relapse Mortality | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Overall survival | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Probability of severe (grade III/IV) GVHD in each arm | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Quality of life | Scales & PROs | Clinical scale | — | — | Emerging | ClinicalTrials.gov | — |
| The Proportion of Participants Who Experienced a Systemic Allergic Reaction (CoFAR Grade 2+ Regardless of Tryptase or CoFAR Grade 1 With Elevated Tryptase) Within 90 Minutes Post-vaccination to the First Dose, Adjusting for Placebo. | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
FDA-Approved Therapies
Phase 4 agents with regulatory approval for this indication
| Drug Name | Mechanism | Type |
|---|---|---|
| Cetirizine | Histamine H1 antagonist | Gene-targeted |
| Cromolyn sodium | Mast cell stabilizer | Gene-targeted |
| Famotidine | Histamine H2 antagonist | Gene-targeted |
| Fexofenadine | Histamine H1 antagonist | Gene-targeted |
| Imatinib | KIT inhibitor - PRIMARY THERAPY | Gene-targeted |
| Ketotifen | Mast cell stabilizer | Gene-targeted |
| Loratadine | Histamine H1 antagonist | Gene-targeted |
| Ranitidine | Histamine H2 antagonist | Gene-targeted |
Therapeutics
Direct disease associations, biomarker-linked drugs, OSMF narrative-review natural agents, and merged ranking. Only agents with registry trials or published clinical literature are shown by default.
No therapeutics in this section.
No therapeutics in this section.
| Drug | Type | Phase | Evidence | Score | Sources | Links |
|---|---|---|---|---|---|---|
| Imatinib Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Midostaurin Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Avapritinib Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Sorafenib Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Cromolyn sodium Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Ketotifen Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Cetirizine Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Fexofenadine Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Loratadine Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Famotidine Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Ranitidine Repurposing via MCAS Clinical Trial | Small molecule | Approved | Strong | 90 | — | |
| Astemizole Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Leukotriene modifiers Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| IVIG Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Interferon-alpha Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Infliximab Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Adalimumab Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Etanercept Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Tocilizumab Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Ruxolitinib Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Eculizumab Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Quercetin Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Luteolin Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — | |
| Resveratrol Repurposing via MCAS Clinical Trial | Small molecule | Clinical trials | Strong | 90 | — |
Alterations and therapeutics are aggregated from public databases (Open Targets, HPO, ChEMBL, DGIdb, and others). Natural agents are candidates from OSMF narrative reviews on opensourcemed.info/chronic-disease.html — not approved treatments. This page is for research orientation only — not medical advice.