Thrombomodulin-related bleeding disorder
Synonyms: THBD-related bleeding disorder · THBD-related coagulopathy · Thrombomodulin-related coagulopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thrombomodulin-related bleeding disorder | THBD-related bleeding disorder · THBD-related coagulopathy · Thrombomodulin-related coagulopathy |
| fr | Maladie hémorragique liée à la thrombomoduline | Coagulopathie liée à THBD · Coagulopathie liée à la thrombomoduline · Maladie hémorragique liée THBD |
| de | Thrombomodulin-abhängige Blutgerinnungsstörung | THBD-abhängige Blutgerinnungsstörung · THBD-bedingte Koagulopathie · Thrombomodulin-abhängige Gerinnungsstörung |
| es | Trastorno de sangrado asociado a trombomodulina | Coagulopatía asociada a la trombomodulina · Coagulopatía asociada al gen THBD · Trastorno de sangrado asociado al gen THBD |
| it | Malattia emorragica correlata alla trombomodulina | Coagulopatia THBD-correlata · Coagulopatia trombomodulina-correlata · Disturbo emorragico THBD-correlato |
| nl | Trombomodulinegerelateerde bloedingsstoornis | THBD-gerelateerde bloedingsstoornis · THBD-gerelateerde coagulopathie · Trombomodulinegerelateerde coagulopathie |
| pt | Doença hemorrágica relacionada com a trombomodulina | |
| pl | Zaburzenia krzepnięcia zależne od trombomoduliny | Koagulopatia zależna od THBD · Koagulopatia zależna od trombomoduliny · Zaburzenia krzepnięcia zależne od THBD |
| cs | Thrombomodulin-vázaná krvácivá porucha | THBD-vázané krvácivé stavy · THBD-vázaná koagulopatie · Koagulopatie související s trombomodulinem |
| uk | Тромбомодулінові розлади кровотечі | Розлад кровотечі, повязаний з THBD · Коагулопатія, повязана з THBD · Тромбомодулінозалежна коагулопатія |
| zh | 血栓调节蛋白相关的出血性疾病 | 血栓调节蛋白相关的凝血障碍 |
| tr | Trombomodulin-ilişkili kanama bozukluğu | THBD ilişkili koagülopati · THBD ilişkili kanama bozukluğu · Trombomodulin-ilişkili koagülopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614486 | E | validated | |
| ICD-10 | D68.3 | NTBT | attributed | validated |
| ICD-11 | 3B21.0 | NTBT | attributed | validated |
| MONDO | 0013775 | E | validated | |
| MeSH | C566057 | E | validated | |
| UMLS | C3280976 | 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 |
|---|---|---|---|---|---|---|---|---|
| THBD | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11784 | ENSG00000178726 | 188040 | 20p11.21 | thrombomodulin | 25049278[PMID]_25564403[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 25049278[PMID]_25564403[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25049278[PMID]_25564403[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436169
- This record as JSON: /data/d/436169.json