Congenital factor XII deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HAF DEFICIENCY
F12 DEFICIENCY
HAGEMAN FACTOR DEFICIENCY
Congenital Hageman factor deficiency
Number of Symptoms 4
OrphanetNr: 330
OMIM Id: 234000
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hemorrhagic disorder due to a constitutional coagulation factors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005542) Prolonged whole-blood clotting time 5 / 7739
2
(HPO:0004841) Reduced factor XII activity 4 / 7739
3
(HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM This deficiency was usually discovered because of the practice in some hospitals of routinely performing whole blood clotting times before surgical operations (McCain et al., 1959). Ratnoff and Steinberg (1962) analyzed data on 55 cases in 37 families. ...
Molecular genetics OMIM Bernardi et al. (1987) found that the factor XII gene alteration in the Hageman trait was detected by the TaqI restriction enzyme in 2 affected brothers and 11 members of the paternal lineage. Gene deletion was excluded. The ...