Preeclampsia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Preeclampsia | |
| fr | Pré-éclampsie | Toxémie gravidique |
| de | Präeklampsie | Schwangerschaftstoxikose |
| es | Preeclampsia | |
| it | Pre-eclampsia | |
| nl | Pre-eclampsie | Zwangerschapsvergiftiging |
| pt | Pré-eclâmpsia | |
| pl | Stan przedrzucawkowy | |
| cs | Preeklampsie | |
| uk | Прееклампсія | |
| zh | 先兆子痫 | |
| tr | Preeklampsi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 189800 | E | validated | |
| OMIM | 609402 | BTNT | validated | |
| OMIM | 609403 | BTNT | validated | |
| OMIM | 609404 | BTNT | validated | |
| OMIM | 614595 | BTNT | validated | |
| ICD-10 | O14.0 | BTNT | specific | validated |
| ICD-10 | O14.1 | BTNT | specific | validated |
| ICD-10 | O14.2 | BTNT | specific | validated |
| ICD-10 | O14.9 | BTNT | specific | validated |
| ICD-11 | JA24 | E | specific | validated |
| ICD-11 | JA24.0 | BTNT | specific | validated |
| ICD-11 | JA24.1 | BTNT | specific | validated |
| MONDO | 0005081 | E | validated | |
| MeSH | D011225 | E | validated | |
| UMLS | C0032914 | E | validated | |
| MedDRA | 10036485 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:163637Rare disorder related with pregnancy, childbirth and puerperium
rare gynecological and obstetric diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CORIN | Major susceptibility factor in | Assessed | HGNC:19012 | ENSG00000145244 | 605236 | 4p12 | corin, serine peptidase | 22437503[PMID] |
| FLT1 | Major susceptibility factor in | Assessed | HGNC:3763 | ENSG00000102755 | 165070 | 13q12.3 | fms related receptor tyrosine kinase 1 | 28628106[PMID] |
| STOX1 | Major susceptibility factor in | Assessed | HGNC:23508 | ENSG00000165730 | 609397 | 10q22.1 | storkhead box 1 | 21490791[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 45 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2011[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2019-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100767 | Abnormality of the placenta | |
| HP:0005117 | Elevated diastolic blood pressure | |
| HP:0004421 | Elevated systolic blood pressure | |
| HP:0000822 | Hypertension | |
| HP:0000093 | Proteinuria | |
| Frequent (79-30%) | ||
| HP:0410019 | Epigastric pain | |
| HP:0100598 | Pulmonary edema | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0006707 | Abnormality of the hepatic vasculature | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000504 | Abnormality of vision | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002315 | Headache | |
| HP:0031418 | Increased body mass index | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001518 | Small for gestational age | |
| Very rare (<4-1%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0002960 | Autoimmunity | |
| HP:0012622 | Chronic kidney disease | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0005202 | Helicobacter pylori infection | |
| HP:0000147 | Polycystic ovaries | |
| HP:0002360 | Sleep abnormality | |
| HP:0001873 | Thrombocytopenia | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31590294[PMID]_31487641[PMID]_26693822[PMID]_27094609[PMID]_29037542[PMID]_34033373[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275555
- This record as JSON: /data/d/275555.json