Pregnancy disorder

Summary

Pregnancy disorder (MONDO:0024575) is a disease (an umbrella term covering 29 Mondo subtypes) with 139 GWAS associations across 103 studies and 306 clinical trials. Top therapeutic interventions include clavulanic acid, ganaxolone, and remifentanil. A subtype of obstetric disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 29 Mondo subtypes
• GWAS associations: 139
• Clinical trials: 306

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pregnancy disorder
Mondo ID	MONDO:0024575
EFO	EFO:0009682
MeSH	D011248
NCIT	C35169
SNOMED CT	173300003
UMLS	C0151864
MedGen	56248
Anatomy (UBERON)	UBERON:0009097
Is cancer (heuristic)	no

Also known as: complication of pregnancy or childbirth · complication, pregnancy · Complications, pregnancy · disorder of pregnancy · disorder of pregnancy, childbirth, or puerperium · pregnancy complication · pregnancy disease · pregnancy disorder

Data availability: 139 GWAS associations (103 studies).

Disease family

This is a subtype of obstetric 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 › obstetric disorder › pregnancy disorder

Related subtypes (1): puerperal disorder

Subtypes (29): funisitis, chorea gravidarum, luteoma of pregnancy, polyhydramnios, impetigo herpetiformis, gestational diabetes, placenta disorder, pemphigoid gestationis, dystocia, hyperemesis gravidarum, pruritic urticarial papules and plaques of pregnancy, familial gestational hyperthyroidism, pseudohyperaldosteronism type 2, aromatase deficiency, acute fatty liver of pregnancy, malignancy diagnosed during pregnancy, postpartum psychosis, peripartum cardiomyopathy, gestational trophoblastic neoplasm, hypertension, pregnancy-induced, chronic intervillositis of unknown etiology, pregnancy disorder with abortive outcome, postpartum amenorrhea-galactorrhea syndrome, pregnancy associated osteoporosis, twin anemia-polycythemia sequence, twin-reversed arterial perfusion sequence, selective intrauterine growth restriction, amniotic fluid embolism, vasa previa

Genetics & variants

GWAS landscape

139 GWAS associations across 103 studies. Top hits map to 31 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs115591354	3e-11		A	1.5
rs62021480	5e-11	RGMA	G	3.53
chr22:43095955	3e-10		?
rs73374483	7e-10	CACNA2D1 - MTHFD2P5	?
rs142795512	1e-09	TRMU	T	5.31
rs12997318	3e-09	ZNF804A - ELF2P4	?
rs145943182	5e-09	RFTN1	?
rs141801323	2e-08	FNIP2	?
rs111343681	4e-08	FAM83B	?
rs11299670	5e-08	CDK14	?
rs111531732	6e-08	LAMA2	G	4.89
rs141955978	6e-08	NEGR1	?
rs113124431	7e-08	SYNDIG1 - LINC02967	A	6.62
rs142553929	8e-08	RALBP1	T	6.18
rs28605589	1e-07	DUX4L47 - LINC00273	?
rs7093061	1e-07	TUBB8 - IL9RP2	?
chr16:79720421	2e-07		T	2.77
rs117478904	2e-07	CBX3P6 - RNU6-1001P	?
rs192288782	2e-07	BALR6, TBC1D5	?
rs79557181	3e-07	KBTBD11-OT1, ARHGEF10	A	4.06
rs148161834	3e-07	GSK3B-DT	T	5.51
rs35627111	4e-07	HOPX	C	3.52
rs35679640	4e-07	GPALPP1	T	4.6
rs114166156	4e-07	GNG4	C	7.42
rs11159260	4e-07	VIPAS39	?
rs186404576	5e-07	ARHGAP16P - LINC02307	T	5.44
rs140702788	5e-07	SLC25A21	T	7.14
rs140533401	6e-07	HELZ2 - GMEB2	T	5.73
rs142965988	7e-07	LAMA1	C	5.73
chr3:143564802	7e-07		C	6.57

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90245837	Changalidis AI	2022	6,468	308,511	Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications.
GCST90245836	Changalidis AI	2022	4,730	310,159	Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications.
GCST90436559	Zhou W	2018	4,325	404,636	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90436564	Zhou W	2018	2,559	401,037	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90436540	Zhou W	2018	2,558	400,946	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90436549	Zhou W	2018	2,235	406,726	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90474228	UK Biobank Whole-Genome Sequencing Consortium	2025	2,168	456,272	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080743	Backman JD	2021	2,035	209,171	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084729	Backman JD	2021	2,035	209,171	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080716	Backman JD	2021	2,007	209,824	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	1
Tier 4: intronic/intergenic	47

MAF distribution

Bucket	Variants
common (>=0.05)	32
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	17

Functional consequences

Consequence	Count
intron_variant	33
intergenic_variant	7
unknown	6
synonymous_variant	1
5_prime_UTR_variant	1
regulatory_region_variant	1
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs115591354	13	60390877	A>G	0.011	intron_variant		3e-11	Tier 4: intronic/intergenic
rs62021480	15	93045079	C>A,G,T	0.05	synonymous_variant	RGMA	5e-11	Tier 4: intronic/intergenic
chr22:43095955							3e-10	Tier 4: intronic/intergenic
rs73374483	7	82506564	C>T	0.05	intergenic_variant	CACNA2D1 - MTHFD2P5	7e-10	Tier 4: intronic/intergenic
rs142795512	22	46351905	C>T	0.05	intron_variant	TRMU	1e-09	Tier 4: intronic/intergenic
rs12997318	2	185354285	G>T	0.05	intergenic_variant	ZNF804A - ELF2P4	3e-09	Tier 4: intronic/intergenic
rs145943182	3	16364693	G>A		intron_variant	RFTN1	5e-09	Tier 4: intronic/intergenic
rs141801323	4	158837338	G>A		intron_variant	FNIP2	2e-08	Tier 4: intronic/intergenic
rs111343681	6	54883204	A>C	0.05	intron_variant	FAM83B	4e-08	Tier 4: intronic/intergenic
rs11299670	7	90860220	AT>A,ATT	0.05	intron_variant	CDK14	5e-08	Tier 4: intronic/intergenic
rs111531732	6	128883147	A>C,G	0.05	5_prime_UTR_variant	LAMA2	6e-08	Tier 2: splice/UTR
rs141955978	1	71572037	A>C,G,T		intron_variant	NEGR1	6e-08	Tier 4: intronic/intergenic
rs113124431	20	24830467	G>A	0.05	intron_variant	SYNDIG1 - LINC02967	7e-08	Tier 4: intronic/intergenic
rs142553929	18	9514640	C>T	0.05	intron_variant	RALBP1	8e-08	Tier 4: intronic/intergenic
rs28605589	16	34147990	T>A,C	0.05	intergenic_variant	DUX4L47 - LINC00273	1e-07	Tier 4: intronic/intergenic
rs7093061	10	76169	C>T	0.05	regulatory_region_variant	TUBB8 - IL9RP2	1e-07	Tier 3: regulatory
chr16:79720421							2e-07	Tier 4: intronic/intergenic
rs117478904	2	155075605	C>A		intron_variant	CBX3P6 - RNU6-1001P	2e-07	Tier 4: intronic/intergenic
rs192288782	3	17928931	C>T		intron_variant	BALR6, TBC1D5	2e-07	Tier 4: intronic/intergenic
rs79557181	8	1876943	G>A,C	0.05	intron_variant	KBTBD11-OT1, ARHGEF10	3e-07	Tier 4: intronic/intergenic
rs148161834	3	120162285	G>T	0.05	intron_variant	GSK3B-DT	3e-07	Tier 4: intronic/intergenic
rs35627111	4	56681394	G>C	0.05	intron_variant	HOPX	4e-07	Tier 4: intronic/intergenic
rs35679640	13	45025919	C>A,T	0.05	intron_variant	GPALPP1	4e-07	Tier 4: intronic/intergenic
rs114166156	1	235613639	G>C		intron_variant	GNG4	4e-07	Tier 4: intronic/intergenic
rs11159260	14	77451069	A>G	0.05	intron_variant	VIPAS39	4e-07	Tier 4: intronic/intergenic
rs186404576	14	43705359	C>T	0.05	intergenic_variant	ARHGAP16P - LINC02307	5e-07	Tier 4: intronic/intergenic
rs140702788	14	36970519	C>T		intron_variant	SLC25A21	5e-07	Tier 4: intronic/intergenic
rs140533401	20	63577028	C>A,T	0.05	intergenic_variant	HELZ2 - GMEB2	6e-07	Tier 4: intronic/intergenic
rs142965988	18	6998725	A>C		intron_variant	LAMA1	7e-07	Tier 4: intronic/intergenic
chr3:143564802							7e-07	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: 306.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	263
PHASE4	14
PHASE3	14
PHASE2/PHASE3	6
PHASE2	5
PHASE1/PHASE2	3
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05114096	PHASE4	RECRUITING	Single Dose of Antenatal Corticosteroids for Pregnancies at Risk of Preterm Delivery (SNACS)
NCT06281665	PHASE4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial
NCT07171086	PHASE4	NOT_YET_RECRUITING	AI-POCUS for Maternal and Neonatal Health in Ethiopia
NCT07361679	PHASE4	RECRUITING	LDA and LMWH vs LDA Alone in High-risk Patients for Preeclampsia Prevention
NCT00190294	PHASE4	COMPLETED	Expectant Versus Immediate Medical Management for the Evacuation of the no Evolutionary Pregnancies Before 13 GW
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT00746551	PHASE4	COMPLETED	Intravenous Versus Oral Iron in Late Pregnancy: Results of Treatment
NCT01337791	PHASE4	COMPLETED	Efficacy, Safety and Tolerability of Telbivudine in HBeAg Positive Chronic Hepatitis B Pregnant Women With Elevated Alanine Aminotransferase Levels
NCT02797119	PHASE4	COMPLETED	Tranexamic Acid to Reduce Blood Loss in Hemorrhagic Caesarean Delivery
NCT03347513	PHASE4	UNKNOWN	Eradication of H-pylori in Pregnancy and Its Effect on Iron Replacement Therapy?
NCT03899961	PHASE4	COMPLETED	Carbetocin Myocardium Trial 2014 Part 2
NCT05132829	PHASE4	UNKNOWN	Azithromycin to Improve Latency in Exam Indicated Cerclage Control Trial
NCT05322252	PHASE4	COMPLETED	Simultaneous Mifepristone and Misoprostol Versus Misoprostol Alone for Induction of Labor of Nonviable Second Trimester Pregnancy: a Pilot Randomized Controlled Trial
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT05552053	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Resources, Inspiration, Support and Empowerment (RISE) for Black Pregnant Women
NCT05790252	PHASE3	RECRUITING	Transdermal Patch for BupRenorphine Induction DurinG PrEgnancy (Patch BRIDGE)
NCT06535789	PHASE2/PHASE3	RECRUITING	Inhaled Insulin vs Rapid-acting Injections for Post-meal Glucose Control in Women With Gestational Diabetes
NCT00015002	PHASE3	TERMINATED	Repeat Antenatal Steroids Trial
NCT00197561	PHASE3	COMPLETED	Partnership on Nutrition and HIV/AIDS Research in Tanzania: Exploratory Research Study on Selenium and HIV Infection
NCT00197730	PHASE3	COMPLETED	Trial of Vitamins Among Children of HIV-infected Women
NCT00946088	PHASE2/PHASE3	TERMINATED	Progesterone for Maintenance Tocolysis: A Randomized Placebo Controlled Trial
NCT00967382	PHASE3	COMPLETED	TIPPS: Thrombophilia in Pregnancy Prophylaxis Study
NCT01019785	PHASE3	UNKNOWN	Vitamin D During In Vitro Fertilisation (IVF) - A Prospective Randomized Trial
NCT01273584	PHASE2/PHASE3	COMPLETED	Metformin in Obese Non-diabetic Pregnant Women
NCT01355159	PHASE3	COMPLETED	High Dose Folic Acid Supplementation Throughout Pregnancy for Preeclampsia Prevention
NCT01735669	PHASE3	COMPLETED	Open Randomized Controlled Trial to Evaluate the Efficacy and Safety of Remifentanil Versus Nitrous Oxide in External Cephalic Version at Term in Singleton Pregnancy in Breech Presentation
NCT01848587	PHASE3	COMPLETED	Trial of Acupuncture Pelvic and Low Back Pain in Pregnancy (Medical and Economical Assessment)
NCT02434380	PHASE3	COMPLETED	Effect of Vitamin D Replacement on Maternal and Neonatal Outcomes
NCT03056274	PHASE2/PHASE3	UNKNOWN	Metformin in Intrahepatic Cholestasis of Pregnancy
NCT03770767	PHASE3	COMPLETED	Insulin Fiasp vs. Insulin Novorapid During Pregnancy and Laction in Women With Pre-existing Diabetes
NCT04494529	PHASE3	COMPLETED	Single Dose Antenatal Corticosteroids (SNACS) for Women at Risk of Preterm Birth
NCT04615624	PHASE3	COMPLETED	Furosemide vs. Placebo for Severe Antepartum Hypertension
NCT05253781	PHASE3	COMPLETED	Low Dose Aspirin for Preventing Intrauterine Growth Restriction and Preeclampsia in Sickle Cell Pregnancy (PIPSICKLE)
NCT05412056	PHASE2/PHASE3	UNKNOWN	Metformin to Prevent Preterm Birth in Twin Pregnancy
NCT03152058	PHASE2	RECRUITING	IMPACT Study: IMProve Pregnancy in APS With Certolizumab Therapy
NCT06417411	PHASE1/PHASE2	RECRUITING	LEARNER- Low dosE AspiRiN prEterm tRial (Angola)
NCT00298935	PHASE2	COMPLETED	Study of the Effectiveness of Osteopathic Manipulative Treatment in Pregnant Women
NCT01050647	PHASE1/PHASE2	COMPLETED	Progesterone for the Management of Preterm, Premature Rupture of the Membranes: A Randomized Controlled Trial.
NCT03228394	PHASE2	COMPLETED	A Clinical Trial of Intravenous (IV) Ganaxolone in Women With Postpartum Depression
NCT03460756	PHASE2	COMPLETED	A Clinical Trial of Oral Ganaxolone in Women With Postpartum Depression

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CLAVULANIC ACID	4	3
GANAXOLONE	4	2
REMIFENTANIL	4	2
URSODIOL	4	2
AZITHROMYCIN	4	1
BETAMETHASONE SODIUM PHOSPHATE	4	1
CARBETOCIN	4	1
CEFAZOLIN	4	1
CERTOLIZUMAB PEGOL	4	1
DALTEPARIN SODIUM	4	1
DYDROGESTERONE	4	1
FOLIC ACID	4	1
FUROSEMIDE	4	1
HYDROXYPROGESTERONE CAPROATE	4	1
INDOMETHACIN	4	1
MIFEPRISTONE	4	1
MISOPROSTOL	4	1
NITROUS OXIDE	4	1
NOREPINEPHRINE	4	1
NORETHINDRONE ACETATE	4	1
OXYTOCIN	4	1
RELUGOLIX	4	1
SODIUM CHLORIDE	4	1
TELBIVUDINE	4	1
TRANEXAMIC ACID	4	1
TRIMETHOPRIM	4	1
SELENIUM	3	1
TINZAPARIN	3	1
CHEMBL4792718	0	2
CHEMBL5439651	0	2