Congenital prekallikrein deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: FLETCHER FACTOR DEFICIENCY
PKK DEFICIENCY
Number of Symptoms 2
OrphanetNr: 749
OMIM Id: 612423
ICD-10: D68.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

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:0003645) Prolonged partial thromboplastin time 15461630 IBIS 20 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hathaway et al. (1965) described a Kentucky kindred in which 4 sibs of the name Fletcher showed a previously undescribed coagulation defect. Although they had no abnormal bleeding tendency, their blood showed much prolonged activated partial thromboplastin time ...
Molecular genetics OMIM In a 79-year-old Caucasian male with prekallikrein deficiency, Wynne Jones et al. (2004) identified a homozygous arg94-to-ter substitution in the KLKB1 gene (R94X; 229000.0001).