Anaphylaxis

Summary

Anaphylaxis (MONDO:0100053) is a disease with 5 GWAS associations across 10 studies and 49 clinical trials. Top therapeutic interventions include epinephrine, albuterol, and racepinephrine. A subtype of hypersensitivity reaction disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 5
• Clinical trials: 49

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	anaphylaxis
Mondo ID	MONDO:0100053
MeSH	D000707
ICD-11	1868068711
NCIT	C107101
SNOMED CT	39579001
UMLS	C4316895
MedGen	1373755
MedDRA	10002198
Is cancer (heuristic)	no

Also known as: anaphylactic shock · systemic anaphylaxis

Data availability: 5 GWAS associations (10 studies).

Disease family

This is a subtype of hypersensitivity reaction disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › hypersensitivity reaction disease › anaphylaxis

Related subtypes (9): type IV hypersensitivity disease, allergic disease, hypersensitivity vasculitis, type III hypersensitivity disease, IgE responsiveness, atopic, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, progestogen hypersensitivity, type II hypersensitivity reaction disease, pseudoallergy

Subtypes (2): idiopathic anaphylaxis, exercise-induced anaphylaxis

Genetics & variants

GWAS landscape

5 GWAS associations across 10 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr14:96612609	2e-15		G	0.47
rs6866243	5e-13	TRIO	T	0.19
rs560760644	5e-12	LINC01779 - U3	G	1.82
rs548500870	3e-11	CAMK1D	C	2.53
rs73849137	3e-10	SYNPR-AS1, SYNPR	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90077806	Backman JD	2021	3,277	328,477	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081792	Backman JD	2021	3,277	328,477	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077807	Backman JD	2021	2,818	326,234	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081793	Backman JD	2021	2,818	326,234	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90479307	Verma A	2024	1,671	447,287	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476290	Verma A	2024	1,336	118,653	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480628	Verma A	2024	1,336	118,653	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436867	Zhou W	2018	548	404,817	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90482555	Verma A	2024	289	59,267	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651265	Liu TY	2025	176	199,253	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	4

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	2
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
unknown	1
intergenic_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr14:96612609				0.205			2e-15	Tier 4: intronic/intergenic
rs6866243	5	14532075	T>C	0.386	intergenic_variant	TRIO	5e-13	Tier 4: intronic/intergenic
rs560760644	1	116219171	G>A	0.001	regulatory_region_variant	LINC01779 - U3	5e-12	Tier 3: regulatory
rs548500870	10	12585681	C>G,T	0.001	intron_variant	CAMK1D	3e-11	Tier 4: intronic/intergenic
rs73849137	3	63451767	G>C	0.05	intron_variant	SYNPR-AS1, SYNPR	3e-10	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ibrutinib.

Clinical trials & evidence

Clinical trials

Clinical trials: 49.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	33
PHASE1	8
PHASE4	5
PHASE1/PHASE2	2
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07341776	PHASE4	RECRUITING	Steroid Use in Treatment of Allergic Reactions to Food
NCT01217138	PHASE4	COMPLETED	Make up for the Epinephrine Autoinjector
NCT01361347	PHASE4	COMPLETED	Safety of Oral Immunotherapy for Cow’s Milk Allergy in School-aged Children
NCT03366298	PHASE4	COMPLETED	Pharmacokinetics of Intramuscular Adrenaline in Food–Allergic Teenagers
NCT04207840	PHASE4	COMPLETED	Study of Drug Exposure in Systemic Circulation of Primatene Mist by Oral Inhalation, Versus Epinephrine Injection by Intramuscular Injection and ProAir by Oral Inhalation in Healthy Individuals
NCT07228325	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Comparative PK/PD of FMXIN002 and EpiPen, in Healthy Adults With Allergic Rhinitis
NCT00890162	PHASE2	COMPLETED	A Randomized, Double-Blind, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis
NCT06205134	PHASE1/PHASE2	COMPLETED	Comparative Bioavailability of Intranasal Epinephrine
NCT03523221	PHASE1	RECRUITING	Use of Dexamethasone in Prevention of the Second Phase or a Biphasic Reaction of Anaphylaxis
NCT07038746	PHASE1	RECRUITING	Effects of Inhaled Epinephrine on Systemic Allergic Reactions During Allergy Testing, Immunotherapy or Oral Challenges
NCT02028065	PHASE1	COMPLETED	A Study to Evaluate the Incidence of Hypersensitivity After Administration of Sugammadex in Healthy Participants (MK-8616-101)
NCT03282929	PHASE1	COMPLETED	Study to Explore the Pharmacokinetics and Pharmacodynamics of Epinephrine in Healthy Male and Female Subjects With Different Skin to Muscle Depth (STMD)
NCT04696822	PHASE1	COMPLETED	Bioavailability of Nasal Epinephrine
NCT06445374	PHASE1	COMPLETED	Effects of Inhaled Epinephrine on Systemic Allergic Reactions During Allergy Testing Immunotherapy or Oral Challenges
NCT06963411	PHASE1	COMPLETED	Phase 1 Crossover Study Evaluating the Safety, Tolerability, and Pharmacokinetics of KP001 in Healthy Adult Volunteers
NCT07210320	PHASE1	COMPLETED	PK/PD Study of IN-001 Sublingual Spray in Healthy Adults
NCT03182491	Not specified	ACTIVE_NOT_RECRUITING	Mechanisms of Anaphylaxis
NCT04615065	Not specified	RECRUITING	Acutelines: a Large Data-/Biobank of Acute and Emergency Medicine
NCT04653324	Not specified	RECRUITING	A Registry for the Food Allergy Community
NCT05135377	Not specified	ACTIVE_NOT_RECRUITING	Canadian Anaphylaxis Network- Predicting Recurrence After Emergency Presentation for Allergic REaction
NCT05210543	Not specified	RECRUITING	Acquisition and Long-term Observation of Patients With Severe Allergic Reactions
NCT06192914	Not specified	RECRUITING	EPAP, Interviewstudy
NCT06793163	Not specified	RECRUITING	Diagnosis and Allergen Identification of Perioperative Anaphylaxis
NCT07328178	Not specified	RECRUITING	Analysis of the Role of IgE Proteoforms in Health and Disease
NCT07584863	Not specified	ACTIVE_NOT_RECRUITING	Virtual Reality-Based Simulation Versus High-Fidelity Simulation for Emergency Management Training in Medical Interns
NCT00047918	Not specified	COMPLETED	Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing
NCT00163735	Not specified	COMPLETED	Potential Allergens in Wine: Double-blind Placebo-controlled Trial
NCT00657228	Not specified	WITHDRAWN	Intravenous Heparin as an Adjunct for the Treatment of Anaphylactic Reactions in an Emergency Department
NCT00868842	Not specified	COMPLETED	Desensitization of Human Mast Cells: Mechanisms and Potential Utility for Preventing Anaphylaxis
NCT01247415	Not specified	UNKNOWN	Clinical Investigation on Allergic-like Reactions and Oculo-respiratory Syndrome After the H1N1 Pandemic Vaccine
NCT01326741	Not specified	UNKNOWN	Clonal Mast Cell Disorders in Exercise-Induced Anaphylaxis
NCT01432522	Not specified	COMPLETED	A Study for Absorption of Intranasal Epinephrine Compared to Conventional Intramuscular Epinephrine
NCT01776489	Not specified	UNKNOWN	Evaluation of the Sphingolipid Metabolite S1P as a Novel Biomarker in Food Allergy
NCT02424136	Not specified	COMPLETED	PEAnut Anaphylaxis Predictors
NCT02640014	Not specified	COMPLETED	Oral Immunotherapy in Food Allergy in Finland
NCT02854969	Not specified	COMPLETED	Satisfaction of Patient With Anaphylaxis in the Use of a Medical Device
NCT02886468	Not specified	COMPLETED	DEpth of EPinephrine Delivery With Auto-injectors Devices
NCT02958605	Not specified	COMPLETED	Smartphone Apps for Pediatric Resuscitation
NCT03406325	Not specified	COMPLETED	Mast Cell Activation Test in Allergic Disease
NCT03942692	Not specified	COMPLETED	What is the Allergy Follow-up for Children After Anaphylactic Reaction? AFCAR : Allergy Follow-up for Children After Anaphylactic Reaction

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EPINEPHRINE	4	3
ALBUTEROL	4	1
RACEPINEPHRINE	2	6