Bleeding diathesis due to a collagen receptor defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bleeding diathesis due to a collagen receptor defect | |
| fr | Troubles hémorragiques par déficit en récepteur du collagène | |
| de | Hämorrhagische Diathese durch Kollagen-Rezeptor-Mangel | |
| es | Diátesis hemorrágica por un defecto del receptor de colágeno | |
| it | Diatesi emorragica da deficit dei recettori del collagene | |
| nl | Bloedingsdiathese als gevolg van een collageenreceptordefect | |
| pt | Doenças hemorrágicas por deficiência de recetores do colagénio | |
| pl | Skaza krwotoczna spowodowana defektem receptora kolagenu | |
| cs | Krvácivé diatézy způsobené poruchami kolagenního receptoru | |
| uk | Кровоточивий діатез внаслідок дефекту колагенових рецепторів | |
| zh | 胶原受体缺乏所致自发性出血 | |
| tr | Kolajen reseptör defektine bağlı kanama diyatezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614200 | BTNT | validated | |
| OMIM | 614201 | BTNT | validated | |
| ICD-10 | D69.8 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | index | validated |
| MONDO | 0019138 | E | validated | |
| UMLS | C5190736 | 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:275736Rare hemorrhagic disorder due to a qualitative platelet defect
rare genetic diseases; rare hematological diseases
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GP6 | ORPHA:98885Bleeding diathesis due to glycoprotein VI deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14388 | ENSG00000088053 | 605546 | 19q13.42 | glycoprotein VI platelet | 19549989[PMID]_19552682[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 7687896[PMID] | |
| 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/73271
- This record as JSON: /data/d/73271.json