Congenital alpha2-antiplasmin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital alpha2-antiplasmin deficiency | |
| fr | Déficit congénital en alpha2-antiplasmine | |
| de | Alpha-2 Antiplasmin-Mangel, kongenitaler | |
| es | Deficiencia congénita de alfa2-antiplasmina | |
| it | Deficit congenito di alfa-2-antiplasmina | |
| nl | Congenitale deficiëntie van alfa2-antiplasmine | |
| pt | Deficiência de alfa2-antiplasmina congénita | |
| pl | Wrodzony Niedobór alfa2-antyplazminy | |
| cs | Vrozený deficit alfa2-antiplasminu | |
| uk | Вроджений дефіцит альфа2-антиплазміну | |
| zh | 先天性α2-抗纤溶酶蛋白缺乏症 | |
| tr | Doğumsal alfa2-antiplazmin eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262850 | E | validated | |
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 3B50.0 | E | specific | validated |
| MONDO | 0009883 | E | validated | |
| UMLS | C4274304 | E | validated | |
| GARD | 731 | 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 (2):
- ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases - ORPHA:250811Serpinopathy with loss of serpin function
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPINF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9075 | ENSG00000167711 | 613168 | 17p13.3 | serpin family F member 2 | 17961166[PMID]_11472338[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 23396430[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23396430[PMID] |
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
12 annotations · validated 2017-06-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005261 | Joint hemorrhage | |
| HP:0001934 | Persistent bleeding after trauma | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000790 | Hematuria | |
| HP:0012151 | Hemothorax | |
| HP:0012233 | Intramuscular hematoma | |
| HP:0040247 | Reduced euglobulin clot lysis time | |
| Occasional (29-5%) | ||
| HP:0011884 | Abnormal umbilical stump bleeding | |
| HP:0002653 | Bone pain | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000225 | Gingival bleeding | |
| HP:0002170 | Intracranial hemorrhage | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 82839[PMID]_11472338[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79
- This record as JSON: /data/d/79.json