Somatoform disorder
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Summary
Somatoform disorder (MONDO:0003117) is a disease (an umbrella term covering 6 Mondo subtypes) with 2 GWAS associations across 12 studies and 32 clinical trials. Top therapeutic interventions include imipramine, escitalopram, and ketamine hydrochloride. A subtype of psychiatric disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 6 Mondo subtypes
- GWAS associations: 2
- Clinical trials: 32
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | somatoform disorder |
| Mondo ID | MONDO:0003117 |
| EFO | EFO:0009687 |
| MeSH | D013001 |
| DOID | DOID:4737 |
| NCIT | C34956 |
| SNOMED CT | 31297008 |
| UMLS | C0037650 |
| MedGen | 20835 |
| Is cancer (heuristic) | no |
Also known as: somatoform disorder
Data availability: 2 GWAS associations (12 studies).
Disease family
This is a subtype of psychiatric disorder. 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 developmental or physiological process › psychiatric disorder › somatoform disorder
Related subtypes (13): sexual disorder, dissociative disorder, impulse control disorder, personality disorder, cognitive disorder, factitious disorder, substance-related disorder, mental disorder, eating disorder, enuresis, Alice in Wonderland syndrome, catatonia, body integrity dysphoria
Subtypes (6): body dysmorphic disorder, neurocirculatory asthenia, hypochondriasis, somatization disorder, conversion disorder, physiological malfunction arising from mental factor
Genetics & variants
GWAS landscape
2 GWAS associations across 12 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs143131764 | 2e-09 | LINC02343, LINC00457 | ? | |
| rs138762977 | 7e-09 | PRB4 - PRB1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481810 | Verma A | 2024 | 9,184 | 435,456 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90727273 | Kim HI | 2026 | 4,089 | 39,937 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90481809 | Verma A | 2024 | 3,246 | 116,531 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473282 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 2,904 | 455,536 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90481808 | Verma A | 2024 | 1,418 | 57,478 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90079814 | Backman JD | 2021 | 844 | 384,989 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083800 | Backman JD | 2021 | 844 | 384,989 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90726773 | Kim HI | 2026 | 744 | 43,282 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90651327 | Liu TY | 2025 | 462 | 143,233 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90651429 | Liu TY | 2025 | 175 | 143,233 | 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 | 0 |
| Tier 4: intronic/intergenic | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 2 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 1 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs143131764 | 13 | 34513028 | A>G | intron_variant | LINC02343, LINC00457 | 2e-09 | Tier 4: intronic/intergenic | |
| rs138762977 | 12 | 11330779 | A>G,T | intergenic_variant | PRB4 - PRB1 | 7e-09 | 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 or in trials for this disease
No drug has an approved disease-direct ChEMBL indication for this disease.
1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
| Drug | Highest phase |
|---|---|
| Imipramine | Phase 2 |
Clinical trials & evidence
Clinical trials
Clinical trials: 32.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 25 |
| PHASE3 | 5 |
| PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00050583 | PHASE3 | COMPLETED | Treatment of Medically Unexplained Physical Ailments (Somatization Disorder) |
| NCT00130988 | PHASE3 | COMPLETED | DEPENAS: A Psychosocial Intervention for Patients With Medically Unexplained Symptoms |
| NCT00149799 | PHASE3 | COMPLETED | Effectiveness of Escitalopram in the Treatment of Body Dysmorphic Disorder |
| NCT00368212 | PHASE3 | COMPLETED | Integrated Treatment Program for Hypochondriasis in Primary Care Settings |
| NCT01119469 | PHASE3 | COMPLETED | Comparing Cognitive Therapy and Exposure Therapy in Individuals With Hypochondriasis |
| NCT00276887 | PHASE2 | COMPLETED | Cognitive Behavior Therapy for Somatization Disorder |
| NCT01518634 | PHASE2 | COMPLETED | Imipramine Treatment for Patients With Multi-organ Bodily Distress Syndrome |
| NCT05565352 | Not specified | ENROLLING_BY_INVITATION | Ketamine Safety and Tolerability in Psychiatric Inpatient Care (KetGD) |
| NCT06582173 | Not specified | NOT_YET_RECRUITING | Mapping the Healthcare Pathway to Multidisciplinary Assessment of 12-25 Year Olds With Somatic Symptom Disorder |
| NCT06909669 | Not specified | NOT_YET_RECRUITING | Ultra-brief Psychological Treatments for Emotional Symptoms and Disorders |
| NCT00106223 | Not specified | COMPLETED | Treatment Study Investigating New Cognitive Behavioral Therapy Treatment Manual for Body Dysmorphic Disorder |
| NCT01062880 | Not specified | UNKNOWN | Neuropattern - Assessment of a Translational Diagnostic Tool for Depression, Adjustment- and Somatoform-disorders |
| NCT01106339 | Not specified | COMPLETED | Immune Patterns in Pain Patients DSM-IV |
| NCT01391897 | Not specified | UNKNOWN | Epigenetics of Posttraumatic Stress Disorder and Somatoform Disorders in the Course of Psychotherapy |
| NCT01453439 | Not specified | COMPLETED | Cognitive-Behavioral Therapy and Supportive Psychotherapy for Body Dysmorphic Disorder |
| NCT01518647 | Not specified | COMPLETED | Acceptance and Commitment Therapy for Patients With Multi-organ Bodily Distress Syndrome (Stress-4) |
| NCT01590992 | Not specified | COMPLETED | Treatment of Globus Sensations With Psychotherapy |
| NCT01924715 | Not specified | COMPLETED | Evaluating the Cost Effectiveness of ISTDP: A Quasi Experimental Study |
| NCT01928264 | Not specified | TERMINATED | Physical Activity in Insurance Medicine: Effects on Patients With Psychiatric Disorders |
| NCT01989728 | Not specified | COMPLETED | Prevalence and Effect of Detecting Common Mental Disorders in Long-term Sickness Absence |
| NCT02151500 | Not specified | COMPLETED | Stress and Health Interview for Primary Care Patients With Medically Unexplained Symptoms |
| NCT02346071 | Not specified | COMPLETED | Acceptance and Commitment Group Therapy for Adolescents With a Range of Functional Somatic Syndromes |
| NCT02843932 | Not specified | TERMINATED | Subjective Perception of Motor Control During Psychogenic Disorders |
| NCT03188861 | Not specified | UNKNOWN | Systematic Screening for Comorbid Psychological Conditions in Cardiac ACSC Patients With Multimorbidity in the ED |
| NCT03226743 | Not specified | COMPLETED | Collaborative and Stepped Care in Mental Health (COMET) |
| NCT03286881 | Not specified | COMPLETED | Brief Evidence-based Psychological Treatments for Emotional Disorders |
| NCT03904784 | Not specified | TERMINATED | School Withdrawal in Adolescents |
| NCT04807933 | Not specified | TERMINATED | Neurovegetative Decoupling in Somatoform Disorders : Biofeedback Interest |
| NCT04835103 | Not specified | COMPLETED | Build a Research Clinic for Somatoform Patients |
| NCT04847310 | Not specified | UNKNOWN | Cost-benefit Evaluation of a Transdiagnostic Psychological Treatment for Emotional Disorders in Primary Care |
| NCT05611606 | Not specified | COMPLETED | Welfare Benefits in Functional Somatic Disorders |
| NCT05631860 | Not specified | COMPLETED | Psychological Risk Factors for Functional Somatic Disorders |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| IMIPRAMINE | 4 | 2 |
| ESCITALOPRAM | 4 | 1 |
| KETAMINE HYDROCHLORIDE | 4 | 1 |
Related Atlas pages
- Drugs: Imipramine, Escitalopram, Ketamine