ORPHA:745
Severe hereditary thrombophilia due to congenital protein C deficiency
Synonyms: Autosomal recessive thrombophilia due to PC deficiency · Autosomal recessive thrombophilia due to congenital protein C deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe hereditary thrombophilia due to congenital protein C deficiency | Autosomal recessive thrombophilia due to PC deficiency · Autosomal recessive thrombophilia due to congenital protein C deficiency |
| fr | Thrombophilie héréditaire sévère due au déficit congénital en protéine C | Thrombophilie autosomique récessive due au déficit congénital en protéine C · Thrombophilie autosimique récessive par déficit en PC |
| de | Schwere hereditäre Thrombophilie durch kongenitalen Protein-C-Mangel | Hereditäre Thrombophilie durch PC-Mangel · Thrombophilie durch PC-Mangel, autosomal-rezessive · Thrombophilie durch kongenitalen Protein C-Mangel, autosomal-rezessive |
| es | Trombofilia hereditaria grave por deficiencia congénita de proteína C | Trombofilia autosómica recesiva por deficiencia congénita de proteína C · Trombofilia autosómica recesiva por deficiencia de PC |
| it | Trombofilia ereditaria da deficit congenito della proteina C | Trombofilia ereditaria da deficit di PC |
| nl | Ernstige erfelijke trombofilie als gevolg van congenitale proteïne C-deficiëntie | Autosomaal recessieve trombofilie als gevolg van PC-deficiëntie · Autosomaal recessieve trombofilie als gevolg van congenitale proteïne C-deficiëntie |
| pt | Trombofilia hereditária grave por deficiência de proteína C congénita | Trombofilia autossómica recessiva por deficiência de PC · Trombofilia autossómica recessiva por deficiência de proteína C congénita |
| pl | Dziedziczna trombofilia z powodu wrodzonego niedoboru białka C | Dziedziczna trombofilia z powodu niedoboru PC |
| cs | Hereditární trombofilie způsobená vrozeným nedostatkem proteinu C | Hereditární trombofilie způsobená nedostatkem PC |
| uk | Тяжка спадкова тромбофілія внаслідок вродженого дефіциту протеїну С | Аутосомно-рецесивна тромбофілія внаслідок вродженого дефіциту протеїну С · Аутосомно-рецесивна тромбофілія, зумовлена дефіцитом PC |
| zh | 遗传性蛋白C缺乏所致严重遗传性血栓症 | 原发性C缺乏所致常染色体隐性遗传血栓形成倾向 |
| tr | Doğumsal protein C eksikliğine bağlı ağır kalıtsal trombofili | PC eksikliğine bağlı otozomal Çekinik trombofili · Doğumsal protein C eksikliğine bağlı otozomal Çekinik trombofili |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176860 | BTNT | validated | |
| OMIM | 612304 | BTNT | validated | |
| ICD-10 | D68.5 | NTBT | attributed | validated |
| ICD-11 | 3B61.0Y | NTBT | index | validated |
| MONDO | 0019145 | E | validated | |
| MONDO | 19145 | E | validated | |
| UMLS | C0598221 | 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:217454Rare hereditary thrombophilia
rare genetic diseases; rare hematological diseases; rare systemic and rheumatological diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PROC | Disease-causing germline mutation(s) in | Assessed | HGNC:9451 | ENSG00000115718 | 612283 | 2q14.3 | protein C, inactivator of coagulation factors Va and VIIIa | 23521084[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 / 100 000 | Worldwide | Value and class | Validated | 16689776[PMID] |
| Point prevalence | Unknown | — | 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.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000979 | Purpura | |
| HP:0000963 | Thin skin | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0100758 | Gangrene | |
| HP:0002204 | Pulmonary embolism | |
| HP:0005293 | Venous insufficiency | |
| HP:0001038 | Warfarin-induced skin necrosis | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/745
- This record as JSON: /data/d/745.json