ORPHA:98878

Hemophilia A

Synonyms: Congenital F8 deficiency · Congenital FVIII deficiency · Congenital Factor VIII deficiency

Type: Disease
Group: Disorder
Inheritance: X-linked recessive
Age of onset: Childhood, Infancy, Neonatal
Status: active

A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hemophilia A	Congenital F8 deficiency · Congenital FVIII deficiency · Congenital Factor VIII deficiency
fr	Hémophilie A	Déficit congénital en F8 · Déficit congénital en FVIII · Déficit congénital en facteur VIII
de	Hämophilie A	Angeborener F8-Mangel · Faktor-VIII-Mangel, kongenitaler
es	Hemofilia A	Deficiencia congénita de F8 · Deficiencia congénita de FVIII · Deficiencia congénita de factor VIII
it	Emofilia A	Deficit congenito del fattore VIII · Deficit congenito di F8 · Deficit congenito di FVIII
nl	Hemofilie A	Congenitale F8-deficiëntie · Congenitale FVIII-deficiëntie · Congenitale deficiëntie van factor VIII
pt	Hemofilia A	Deficiência congénita de F8 · Deficiência congénita de factor VIII
pl	Hemofilia A	Niedobór czynnika VIII
cs	Hemofilie A	Deficit faktoru VIII
uk	Гемофілія А	Вроджений дефіцит F8 · Вроджений дефіцит фактора VIII · Вроджений дефіцит FVIII
zh	血友病A	VIII因子缺乏症
tr	Hemofili A	FVIII eksikliği · Faktör VIII eksikliği

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	306700	E		validated
ICD-10	D66	E	specific	validated
ICD-11	3B10.0	E	specific	validated
MONDO	0010602	E		validated
MeSH	D006467	E		validated
UMLS	C0019069	E		validated
GARD	6591	E		validated
MedDRA	10010468	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):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:448Hemophilia
rare genetic diseases; rare hematological diseases

Children (4):

Genes

0 direct · 4 via subtypes

Orphanet 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
F8	ORPHA:169802Severe hemophilia A	Disease-causing germline mutation(s) in	Assessed	HGNC:3546	ENSG00000185010	300841	Xq28	coagulation factor VIII	20301578[PMID]
F8	ORPHA:169805Moderate hemophilia A	Disease-causing germline mutation(s) in	Assessed	HGNC:3546	ENSG00000185010	300841	Xq28	coagulation factor VIII	20301578[PMID]
F8	ORPHA:169808Mild hemophilia A	Disease-causing germline mutation(s) in	Assessed	HGNC:3546	ENSG00000185010	300841	Xq28	coagulation factor VIII	20301578[PMID]
F8	ORPHA:177926Bleeding disorder in hemophilia A carriers	Disease-causing germline mutation(s) in	Assessed	HGNC:3546	ENSG00000185010	300841	Xq28	coagulation factor VIII	20301578[PMID]_25611311[PMID]_19302446[PMID]

Prevalence and incidence

110 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	1.8 / 100 000	Dominican Republic	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.5 / 100 000	Ecuador	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.4 / 100 000	Egypt	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3 / 100 000	El Salvador	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.7 / 100 000	Eritrea	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.8 / 100 000	Estonia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.6 / 100 000	Finland	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5 / 100 000	Germany	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.5 / 100 000	Greece	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1 / 100 000	Guatemala	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.6 / 100 000	Honduras	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	8.3 / 100 000	Hungary	Value and class	Validated	19845775[PMID]
Point prevalence	1-5 / 10 000	19.3 / 100 000	Iceland	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.7 / 100 000	India	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.1 / 100 000	Indonesia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5.6 / 100 000	Iran, Islamic Republic of	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1.8 / 100 000	Iraq	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	9.2 / 100 000	Ireland	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5.4 / 100 000	Israel	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.7 / 100 000	Italy	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.6 / 100 000	Jamaica	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.3 / 100 000	Japan	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.5 / 100 000	Jordan	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1.1 / 100 000	Kenya	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3 / 100 000	Korea, Republic of	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.9 / 100 000	Latvia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1.5 / 100 000	Lebanon	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.7 / 100 000	Lesotho	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.1 / 100 000	Lithuania	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5.4 / 100 000	Luxembourg	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	8.1 / 100 000	North Macedonia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.3 / 100 000	Malaysia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.3 / 100 000	Malta	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.2 / 100 000	Mexico	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.7 / 100 000	Moldova, Republic of	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1.4 / 100 000	Mongolia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1 / 100 000	Morocco	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.6 / 100 000	Nepal	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	9.3 / 100 000	Netherlands	Value and class	Validated	19845775[PMID]
Point prevalence	1-5 / 10 000	11 / 100 000	New Zealand	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.7 / 100 000	Nicaragua	Value and class	Validated	19845775[PMID]
Point prevalence	<1 / 1 000 000	0.025 / 100 000	Nigeria	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.1 / 100 000	Norway	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.8 / 100 000	Pakistan	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.7 / 100 000	Palestinian Territory, occupied	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.6 / 100 000	Panama	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1.2 / 100 000	Paraguay	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1.6 / 100 000	Peru	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.9 / 100 000	Philippines	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5.6 / 100 000	Poland	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.9 / 100 000	Portugal	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	7.9 / 100 000	Qatar	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.4 / 100 000	Romania	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.3 / 100 000	Russian Federation	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.5 / 100 000	Saudi Arabia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.8 / 100 000	Senegal	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.7 / 100 000	Serbia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.1 / 100 000	Sierra leone	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4 / 100 000	Singapore	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	8.6 / 100 000	Slovakia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	8.2 / 100 000	Slovenia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3 / 100 000	South Africa	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.8 / 100 000	Spain	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.6 / 100 000	Sri Lanka	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.85 / 100 000	Sudan	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	7.7 / 100 000	Sweden	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	7.1 / 100 000	Switzerland	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1.8 / 100 000	Thailand	Value and class	Validated	19845775[PMID]
Point prevalence	<1 / 1 000 000	0.02 / 100 000	Togo	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.2 / 100 000	Tunisia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.1 / 100 000	Turkey	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.35 / 100 000	Ukraine	Value and class	Validated	19845775[PMID]
Point prevalence	1-5 / 10 000	10.4 / 100 000	United Kingdom	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.9 / 100 000	Uruguay	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.8 / 100 000	Uzbekistan	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.9 / 100 000	Venezuela	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	1 / 100 000	Viet Nam	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.3 / 100 000	Zimbabwe	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.85 / 100 000	Worldwide	Value and class	Not yet validated	19845775[PMID]_ORPHANET
Prevalence at birth	1-5 / 10 000	11.25 / 100 000	Worldwide	Value and class	Not yet validated	20301578[PMID]_ORPHANET
Point prevalence	1-5 / 10 000	10.5 / 100 000	France	Value and class	Validated	ORPHANET
Point prevalence	1-9 / 100 000	7 / 100 000	United States	Value and class	Validated	20301578[PMID]_19845775[PMID]_ORPHANET
Point prevalence	1-9 / 100 000	8 / 100 000	Europe	Value and class	Validated	European Medicines Agency 2018[OTHER]
Point prevalence	1-9 / 100 000	1.58 / 100 000	Africa	Value and class	Validated	19845775[PMID]_ORPHANET
Point prevalence	1-9 / 100 000	7.6 / 100 000	Albania	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.8 / 100 000	Algeria	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.5 / 100 000	Argentina	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5 / 100 000	Armenia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.8 / 100 000	Australia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.3 / 100 000	Austria	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	8 / 100 000	Azerbaijan	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.2 / 100 000	Bangladesh	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5.1 / 100 000	Belarus	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6 / 100 000	Belgium	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.2 / 100 000	Belize	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.1 / 100 000	Bolivia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.6 / 100 000	Bosnia and Herzegovina	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3.7 / 100 000	Brazil	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.8 / 100 000	Bulgaria	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	7.3 / 100 000	Canada	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5.3 / 100 000	Chile	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 1 000 000	0.2 / 100 000	China	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.6 / 100 000	Colombia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	3 / 100 000	Costa rica	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	8.5 / 100 000	Croatia	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	2.7 / 100 000	Cuba	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	5.2 / 100 000	Cyprus	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.1 / 100 000	Czech Republic	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	6.2 / 100 000	Denmark	Value and class	Validated	19845775[PMID]
Point prevalence	1-9 / 100 000	4.4 / 100 000	Georgia	Value and class	Validated	19845775[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

14 annotations · validated 2017-07-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002829	Arthralgia
HP:0011889	Bleeding with minor or no trauma
HP:0001386	Joint swelling
HP:0003125	Reduced factor VIII activity
Frequent (79-30%)
HP:0030140	Oral cavity bleeding
HP:0007420	Spontaneous hematomas
HP:0001907	Thromboembolism
Occasional (29-5%)
HP:0009811	Abnormality of the elbow
HP:0002239	Gastrointestinal hemorrhage
HP:0012233	Intramuscular hematoma
HP:0030746	Intraventricular hemorrhage
HP:0005261	Joint hemorrhage
Very rare (<4-1%)
HP:0002170	Intracranial hemorrhage
HP:0012223	Splenic rupture

Run the differential on the 4 obligate / very frequent terms

Annotation source: 11246535[PMID]_427411[PMID]_20301578[PMID]_27178624[PMID]_20301578[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/98878
This record as JSON: /data/d/98878.json