ORPHA:465
Congenital plasminogen activator inhibitor type 1 deficiency
Synonyms: Congenital PAI-1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital plasminogen activator inhibitor type 1 deficiency | Congenital PAI-1 deficiency |
| fr | Déficit congénital en inhibiteur 1 de l'activateur du plasminogène | Déficit congénital en PAI-1 |
| de | Plasminogenaktivator-Inhibitor Typ 1-Mangel, kongenitaler | PAI-1-Mangel, kongenitaler |
| es | Deficiencia congénita del inhibidor del activador del plasminógeno tipo 1 | |
| it | Deficit congenito dell'inibitore dell'attivatore del plasminogeno tipo 1 | Deficit congenito di PAI-1 |
| nl | Congenitale deficiëntie van plasminogeenactivator-inhibitor type 1 | Congenitale PAI-1-deficiëntie |
| pt | Deficiência de inibidor 1 do ativador do plasminogénio congénita | |
| pl | Wrodzony Niedobór inhibitora aktywacji plazminogenu typu 1 | Wrodzony Niedobór PAI-1 |
| cs | Vrozený deficit inhibitoru plasminogenového aktivátoru, typ 1 | Vrozený deficit PAI-1 |
| uk | Вроджений дефіцит інгібітора активатора плазміногену, тип 1 | Вроджений дефіцит PAI-1 |
| zh | 先天性纤溶酶原激活物抑制剂1型缺乏症 | 先天性PAI-1型缺乏症 |
| tr | Doğumsal plazminojen aktivatör inhibitörü tip 1 eksikliği | Doğumsal PAI-1 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613329 | E | validated | |
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 3B50.1 | E | specific | validated |
| MONDO | 0013227 | E | validated | |
| UMLS | C4273899 | E | validated | |
| GARD | 4381 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases - ORPHA:250808Serpinopathy with toxic serpin polymerization
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPINE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8583 | ENSG00000106366 | 173360 | 7q22.1 | serpin family E member 1 | 9207454[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
25 annotations · validated 2021-01-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040228 | Decreased level of plasminogen | |
| HP:0040230 | Decreased level of tissue plasminogen activator | |
| HP:0001934 | Persistent bleeding after trauma | |
| HP:0004846 | Prolonged bleeding after surgery | |
| HP:0040245 | Reduced alpha-2-antiplasmin activity | |
| HP:0040248 | Reduced plasminogen activator inhibitor 1 activity | |
| HP:0040249 | Reduced plasminogen activator inhibitor 1 antigen | |
| Frequent (79-30%) | ||
| HP:0000132 | Menorrhagia | |
| HP:0001622 | Premature birth | |
| HP:0005268 | Spontaneous abortion | |
| HP:0001933 | Subcutaneous hemorrhage | |
| Occasional (29-5%) | ||
| HP:0000421 | Epistaxis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0040184 | Oral bleeding | |
| HP:0011891 | Post-partum hemorrhage | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0030657 | Umbilical cord hematoma | |
| Very rare (<4-1%) | ||
| HP:0100310 | Epidural hemorrhage | |
| HP:0011854 | Hemoperitoneum | |
| HP:0012233 | Intramuscular hematoma | |
| HP:0005261 | Joint hemorrhage | |
| HP:0001685 | Myocardial fibrosis | |
| HP:0001058 | Poor wound healing | |
| Excluded (0%) | ||
| HP:0007420 | Spontaneous hematomas | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 31427261[PMID]_28771291[PMID]_31469483[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/465
- This record as JSON: /data/d/465.json