Perinatal disease
diseaseOn this page
Also known as perinatal conditionperinatal disorder
Summary
Perinatal disease (MONDO:0100086) is a disease with 3 GWAS associations across 9 studies and 6 clinical trials. Top therapeutic interventions include insulin detemir and metformin. A subtype of disease by developmental or physiological process — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 3
- Clinical trials: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | perinatal disease |
| Mondo ID | MONDO:0100086 |
| EFO | EFO:0010238 |
| ICD-10-CM | P00-P96 |
| UMLS | C0270075 |
| MedGen | 75717 |
| Is cancer (heuristic) | no |
Also known as: perinatal condition · perinatal disorder
Data availability: 3 GWAS associations (9 studies).
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease › human disease › disease by developmental or physiological process › perinatal disease
Related subtypes (11): psychiatric disorder, metabolic disease, premature aging syndrome, disorder of development or morphogenesis, inflammatory disease, disorder of glycosylation, ulcer disease, mitochondrial disease, sleep disorder, obstetric disorder, disease by molecular mechanism
Subtypes (1): cystic fibrosis associated meconium ileus
Genetics & variants
GWAS landscape
3 GWAS associations across 9 studies. Top hits map to 10 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs4148323 | 5e-22 | UGT1A9, UGT1A8, UGT1A4, UGT1A3, UGT1A5, UGT1A7, UGT1A10, UGT1A6, UGT1A1 | ? | |
| rs183677887 | 6e-09 | FMN1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90651319 | Liu TY | 2025 | 1,707 | 234,368 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90651183 | Liu TY | 2025 | 1,002 | 234,368 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90478741 | Verma A | 2024 | 504 | 32,078 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481074 | Verma A | 2024 | 345 | 16,157 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482313 | Verma A | 2024 | 345 | 16,157 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90474253 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 339 | 458,101 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90482312 | Verma A | 2024 | 294 | 5,596 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651413 | Liu TY | 2025 | 190 | 236,596 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90436560 | Zhou W | 2018 | 110 | 408,851 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| missense_variant | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs4148323 | 2 | 233760498 | G>A,C | 0.05 | missense_variant | UGT1A9, UGT1A8, UGT1A4, UGT1A3, UGT1A5, UGT1A7, UGT1A10, UGT1A6, UGT1A1 | 5e-22 | Tier 1: coding |
| rs183677887 | 15 | 33190277 | G>C | intron_variant | FMN1 | 6e-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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 6.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 4 |
| PHASE3 | 1 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04222348 | PHASE3 | UNKNOWN | MeDiGes Study: Metformine Use in Gestational Diabetes |
| NCT05382884 | PHASE2 | COMPLETED | The SUPPORT Study: Effectiveness and Usability of a Web-Enabled Resource for Postpartum Mental Health |
| NCT05119868 | Not specified | RECRUITING | Effects of the Mediterranean Diet During Pregnancy on the Onset of Allergies in the Offspring |
| NCT03506971 | Not specified | UNKNOWN | Early Childhood : Action Research in the Lunévillois Area (PERL) |
| NCT05895175 | Not specified | COMPLETED | Evolution of Maternal and Paternal-fetus Attachment in Egg Donation |
| NCT06215092 | Not specified | COMPLETED | Perinatal and Psychological Correlates of Neurodevelopmental Disorders in Children. |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| INSULIN DETEMIR | 4 | 1 |
| METFORMIN | 4 | 1 |
Related Atlas pages
- Drugs: Insulin Detemir, Metformin