ORPHA:483
Congenital high-molecular-weight kininogen deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood
- Status
- active
A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital high-molecular-weight kininogen deficiency | |
| fr | Déficit congénital en kininogène de haut poids moléculaire | |
| de | High-Molecular-Weight Kininogen-Mangel, kongenitaler | Fitzgerald-Faktor-Mangel · HMWK-Defizienz · Hereditärer Mangel an hochmolekularem Kininogen |
| es | Deficiencia congénita de quininógeno de alto peso molecular | |
| it | Deficit congenito di chininogeno ad alto peso molecolare | |
| nl | Congenitale deficiëntie van hoogmoleculair kininogeen | |
| pt | Deficiência de quininogénio de alto peso molecular congénita | |
| pl | Wrodzony Niedobór kininogenu wielkocząsteczkowego | |
| cs | Vrozený deficit vysokomolekulárního kininogenu | |
| uk | Вроджений дефіцит високомолекулярного кініногену | |
| zh | 先天性高分子量激肽原缺乏症 | |
| tr | Doğumsal yüksek moleküler ağırlıklı kininojen eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228960 | E | validated | |
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 3B15 | NTBT | index | validated |
| MONDO | 0009234 | E | validated | |
| UMLS | C0272340 | E | validated | |
| GARD | 2684 | 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 (1):
- ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KNG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6383 | ENSG00000113889 | 612358 | 3q27.3 | kininogen 1 | 17522339[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/483
- This record as JSON: /data/d/483.json