Congenital factor XI deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: F11 DEFICIENCY
Hemophilia C
pta deficiency
Rosenthal factor deficiency
plasma thromboplastin antecedent deficiency
rosenthal syndrome
Number of Symptoms 5
OrphanetNr: 329
OMIM Id: 612416
ICD-10: D68.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[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:0001929) Reduced factor XI activity 7 / 7739
2
(HPO:0001892) Abnormal bleeding 85 / 7739
3
(HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less than 15 IU/dL). Bleeding occurs mainly after trauma or surgery. On the basis of the concordance or discordance of F11 ...
Clinical Description OMIM Mannhalter et al. (1987) demonstrated a deficiency of factor XI in a homozygous girl who was positive for crossreacting material. The ratio of factor XI coagulant activity to factor XI antigen was 0.04 for the proposita as compared ...
Molecular genetics OMIM Asakai et al. (1989) identified 3 independent point mutations in the F11 gene of 6 unrelated Ashkenazi patients. One mutation disrupted normal mRNA splicing (264900.0001), another caused premature polypeptide termination (264900.0002), and the last resulted in a missense ...
Population genetics OMIM Biggs and MacFarlane (1962) noted that almost all reported patients with F11 deficiency were of Jewish extraction. Rosenthal (1964) collected 72 cases from 46 Jewish families. According to Seligsohn (1979), the homozygote frequency in Ashkenazi Jews in Israel ...