ORPHA:169805

Moderate hemophilia A

Synonyms: Moderate congenital F8 deficiency · Moderate congenital factor VIII deficiency

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
Status: active

A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Moderate hemophilia A	Moderate congenital F8 deficiency · Moderate congenital factor VIII deficiency
fr	Hémophilie A modérée	Déficit congénital modéré en F8 · Déficit congénital modéré en facteur VIII
de	Hämophilie A, mittelschwere	Faktor-VIII-Mangel, kongenitaler, mittelschwerer · Mittelschwerer angeborener F8-Mangel
es	Hemofilia A moderada	Deficiencia moderada congénita de F8 · Deficiencia moderada congénita de factor VIII
it	Emofilia A moderata	Deficit congenito moderato del fattore VIII · Deficit congenito moderato di F8
nl	Matige hemofilie A	Matige congenitale F8-deficiëntie · Matige congenitale deficiëntie van factor VIII
pt	Hemofilia A moderada	Deficiência congénita moderada de F8 · Deficiência congénita moderada de factor VIII
pl	Umiarkowanie ciężka hemofilia A	Umiarkowanie ciężki Niedobór czynnika VIII
cs	Středně těžká hemofilie A	Středně těžký deficit faktoru VIII
uk	Помірна гемофілія А	Помірний вроджений дефіцит F8 · Помірний вроджений дефіцит фактора VIII
zh	中重度血友病A型	中重度因子VIII缺乏
tr	Orta derecede ağır hemofili A	Orta derecede ağır faktör VIII eksikliği

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	306700	NTBT		validated
ICD-10	D66	NTBT	attributed	validated
ICD-11	3B10.0	NTBT	attributed	validated
MONDO	0015720	E		validated
UMLS	C0272323	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:98878Hemophilia A
rare genetic diseases; rare hematological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
F8	Disease-causing germline mutation(s) in	Assessed	HGNC:3546	ENSG00000185010	300841	Xq28	coagulation factor VIII	20301578[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

26 annotations · validated 2020-02-24

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001892	Abnormal bleeding
HP:0003645	Prolonged partial thromboplastin time
HP:0003125	Reduced factor VIII activity
Frequent (79-30%)
HP:0002829	Arthralgia
HP:0011889	Bleeding with minor or no trauma
HP:0000225	Gingival bleeding
HP:0012233	Intramuscular hematoma
HP:0005261	Joint hemorrhage
HP:0001933	Subcutaneous hemorrhage
Occasional (29-5%)
HP:0003040	Arthropathy
HP:0100773	Cartilage destruction
HP:0002239	Gastrointestinal hemorrhage
HP:0002315	Headache
HP:0000790	Hematuria
HP:0002170	Intracranial hemorrhage
HP:0001386	Joint swelling
HP:0001376	Limitation of joint mobility
HP:0006298	Prolonged bleeding after dental extraction
HP:0004846	Prolonged bleeding after surgery
HP:0100309	Subdural hemorrhage
HP:0100769	Synovitis
Very rare (<4-1%)
HP:0100310	Epidural hemorrhage
HP:0003273	Hip contracture
HP:0030746	Intraventricular hemorrhage
HP:0001250	Seizure
HP:0007420	Spontaneous hematomas

Run the differential on the 3 obligate / very frequent terms

Annotation source: 20301578[PMID]_23815950[PMID]_30341523[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/169805
This record as JSON: /data/d/169805.json