Congenital prekallikrein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital prekallikrein deficiency | |
| fr | Déficit congénital en prékallicréine | |
| de | Präkallikrein-Mangel, kongenitaler | |
| es | Deficiencia congénita de precalicreína | |
| it | Deficit congenito di precallicreina | |
| nl | Congenitale prekallikreïnedeficiëntie | |
| pt | Deficiência de precalicreína congénita | |
| pl | Wrodzony Niedobór prekalikreiny | |
| cs | Vrozený deficit prekalikreinu | |
| uk | Вроджений дефіцит прекалікреїну | |
| zh | 先天性前激肽释放酶原缺乏症 | |
| tr | Doğumsal prekallikrein eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612423 | E | validated | |
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 3B15 | NTBT | index | validated |
| MONDO | 0012901 | E | validated | |
| MeSH | C562725 | E | validated | |
| UMLS | C0272339 | E | validated | |
| GARD | 4477 | 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:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLKB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6371 | ENSG00000164344 | 229000 | 4q35.2 | kallikrein B1 | 15461630[PMID]_20301226[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/749
- This record as JSON: /data/d/749.json