HEPARIN COFACTOR II DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: HCF2 DEFICIENCY
HCF II DEFICIENCY
THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY
THPH10
Number of Symptoms 6
OrphanetNr:
OMIM Id: 612356
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004761) Post-angioplasty coronary artery restenosis 1 / 7739
2
(HPO:0004850) Recurrent deep vein thrombosis 4 / 7739
3
(HPO:0005521) Disseminated intravascular coagulation 5 / 7739
4
(OMIM) Heparin cofactor II deficiency 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Intracranial thrombosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Heparin cofactor II (HCF2; 142360) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo ...
Clinical Description OMIM In a 42-year-old woman with intracranial thrombosis, Tran et al. (1985) found that HCF II was about 50% of normal. The same was true of the mother and sister, both of whom had had thrombotic complications.

...

Molecular genetics OMIM Using PCR, Blinder et al. (1989) amplified DNA fragments encoding the N-terminal 220 amino acids of HCF II from a patient with the Oslo variant. They identified a point mutation resulting in an arg189-to-his (R189H; 142360.0001) substitution in ...