ORPHA:98879
Hemophilia B
Synonyms: Congenital F9 deficiency · Congenital factor IX deficiency · Christmas disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemophilia B | Congenital F9 deficiency · Congenital factor IX deficiency · Christmas disease |
| fr | Hémophilie B | Déficit congénital en F9 · Déficit congénital en facteur IX · Maladie de Christmas |
| de | Hämophilie B | Angeborener F9-Mangel · Faktor-IX-Mangel, kongenitaler · Christmas-Krankheit |
| es | Hemofilia B | Deficiencia congénita de F9 · Deficiencia congénita de factor IX · Enfermedad de Navidad |
| it | Emofilia B | Deficit congenito del fattore IX · Deficit congenito di F9 · Malattia di Christmas |
| nl | Hemofilie B | Congenitale F9-deficiëntie · Congenitale deficiëntie van factor IX · Ziekte van Christmas |
| pt | Hemofilia B | Deficiência congénita de F9 · Deficiência congénita de factor IX · Doença Christmas |
| pl | Hemofilia B | Choroba Christmasa · Niedobór czynnika IX |
| cs | Hemofilie B | Christmasova nemoc · Deficit faktoru IX |
| uk | Гемофілія В | Хвороба Крістмаса · Вроджений дефіцит F9 · Вроджений дефіцит фактора IX |
| zh | 血友病B | IX因子缺乏症 |
| tr | Hemofili B | Christmas hastalığı · Faktör IX eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300807 | BTNT | validated | |
| OMIM | 306900 | BTNT | validated | |
| ICD-10 | D67 | E | specific | validated |
| ICD-11 | 3B11.0 | E | specific | validated |
| MONDO | 0010604 | E | validated | |
| MeSH | D002836 | E | validated | |
| UMLS | C0008533 | E | validated | |
| GARD | 8732 | E | validated | |
| MedDRA | 10010467 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:448Hemophilia
rare genetic diseases; rare hematological diseases
4
Genes
0 direct · 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| F9 | ORPHA:169793Severe hemophilia B | Disease-causing germline mutation(s) in | Assessed | HGNC:3551 | ENSG00000101981 | 300746 | Xq27.1 | coagulation factor IX | |
| F9 | ORPHA:169796Moderate hemophilia B | Disease-causing germline mutation(s) in | Assessed | HGNC:3551 | ENSG00000101981 | 300746 | Xq27.1 | coagulation factor IX | |
| F9 | ORPHA:169799Mild hemophilia B | Disease-causing germline mutation(s) in | Assessed | HGNC:3551 | ENSG00000101981 | 300746 | Xq27.1 | coagulation factor IX | |
| F9 | ORPHA:177929Bleeding disorder in hemophilia B carriers | Disease-causing germline mutation(s) in | Assessed | HGNC:3551 | ENSG00000101981 | 300746 | Xq27.1 | coagulation factor IX |
5
Prevalence and incidence
101 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Validated | 21649801[PMID]_European Medicines Agency 2018[OTHER] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Albania | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.44 / 100 000 | Algeria | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.54 / 100 000 | Argentina | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Armenia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.665 / 100 000 | Austria | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.16 / 100 000 | Azerbaijan | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.015 / 100 000 | Bangladesh | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.84 / 100 000 | Belarus | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.32 / 100 000 | Belgium | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.155 / 100 000 | Belize | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.045 / 100 000 | Bolivia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.265 / 100 000 | Bosnia and Herzegovina | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.535 / 100 000 | Brazil | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.775 / 100 000 | Bulgaria | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.795 / 100 000 | Chile | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.405 / 100 000 | Colombia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.645 / 100 000 | Costa rica | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.625 / 100 000 | Croatia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.49 / 100 000 | Cuba | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.195 / 100 000 | Cyprus | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.045 / 100 000 | Czech Republic | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.56 / 100 000 | Denmark | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.165 / 100 000 | Dominican Republic | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | Ecuador | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.955 / 100 000 | Egypt | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.31 / 100 000 | El Salvador | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.065 / 100 000 | Eritrea | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.24 / 100 000 | Estonia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.235 / 100 000 | Finland | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Georgia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.885 / 100 000 | Germany | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.075 / 100 000 | Greece | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.075 / 100 000 | Guatemala | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.17 / 100 000 | Honduras | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.115 / 100 000 | Hungary | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.695 / 100 000 | Iceland | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.095 / 100 000 | India | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.01 / 100 000 | Indonesia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.98 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.545 / 100 000 | Iraq | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.06 / 100 000 | Italy | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.495 / 100 000 | Korea, Republic of | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.76 / 100 000 | Latvia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.57 / 100 000 | Lithuania | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.235 / 100 000 | Luxembourg | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.205 / 100 000 | North Macedonia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Malaysia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.77 / 100 000 | Malta | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.29 / 100 000 | Mexico | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.37 / 100 000 | Moldova, Republic of | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Mongolia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Morocco | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.065 / 100 000 | Nepal | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.035 / 100 000 | Netherlands | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.855 / 100 000 | New Zealand | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.005 / 100 000 | Nigeria | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.975 / 100 000 | Norway | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.24 / 100 000 | Pakistan | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.84 / 100 000 | Palestinian Territory, occupied | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.24 / 100 000 | Peru | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Philippines | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.85 / 100 000 | Poland | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.93 / 100 000 | Portugal | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.265 / 100 000 | Qatar | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.73 / 100 000 | Russian Federation | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Saudi Arabia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.04 / 100 000 | Senegal | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.715 / 100 000 | Serbia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.045 / 100 000 | Sierra leone | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.545 / 100 000 | Singapore | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.995 / 100 000 | Israel | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.32 / 100 000 | Jamaica | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.745 / 100 000 | Jordan | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | Kenya | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.33 / 100 000 | Lebanon | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.33 / 100 000 | Nicaragua | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.585 / 100 000 | Panama | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.375 / 100 000 | Paraguay | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.76 / 100 000 | Romania | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.28 / 100 000 | Slovakia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.82 / 100 000 | Slovenia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.525 / 100 000 | South Africa | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.765 / 100 000 | Spain | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.065 / 100 000 | Sri Lanka | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.115 / 100 000 | Sudan | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.85 / 100 000 | Sweden | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.375 / 100 000 | Switzerland | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.085 / 100 000 | Thailand | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.02 / 100 000 | Togo | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.37 / 100 000 | Tunisia | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.31 / 100 000 | Turkey | Value and class | Validated | 21649801[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.01 / 100 000 | Ukraine | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.08 / 100 000 | United Kingdom | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.36 / 100 000 | Uruguay | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.285 / 100 000 | Uzbekistan | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.18 / 100 000 | Venezuela | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.14 / 100 000 | Viet Nam | Value and class | Validated | 21649801[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.35 / 100 000 | Zimbabwe | Value and class | Validated | 21649801[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.665 / 100 000 | Worldwide | Value and class | Validated | 20301668[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.44 / 100 000 | France | Value and class | 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.
6
HPO phenotypes
14 annotations · validated 2017-07-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012541 | Cephalohematoma | |
| HP:0040232 | Delayed onset bleeding | |
| HP:0000790 | Hematuria | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0012233 | Intramuscular hematoma | |
| HP:0005261 | Joint hemorrhage | |
| HP:0400008 | Menometrorrhagia | |
| HP:0001058 | Poor wound healing | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0004846 | Prolonged bleeding after surgery | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0011858 | Reduced factor IX activity | |
| HP:0004406 | Spontaneous, recurrent epistaxis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301668[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98879
- This record as JSON: /data/d/98879.json