Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Coagulation defects, purpura and other haemorrhagic conditions
Autosomal recessive
16p11.2
Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607473.1.1 | Lebanon | Female | Yes | Yes | Antenatal intracerebral hemorrhage; In... Antenatal intracerebral hemorrhage; Increased plasma vitamin K epoxide after vitamin K supplementation  | NM_024006.6:c.292C>T | Homozygous | Autosomal, Recessive | Rost et al. 2004; Oldenburg et al. 2000 | |
| 607473.1.2 | Lebanon | Female | Yes | Yes | Antenatal intracerebral hemorrhage; In... Antenatal intracerebral hemorrhage; Increased plasma vitamin K epoxide after vitamin K supplementation | NM_024006.6:c.292C>T | Homozygous | Autosomal, Recessive | Rost et al. 2004 | Sibling of 607473.1.... |
| 607473.1.3 | Lebanon | Female | Yes | Yes | Antenatal intracerebral hemorrhage; In... Antenatal intracerebral hemorrhage; Increased plasma vitamin K epoxide after vitamin K supplementation | NM_024006.6:c.292C>T | Homozygous | Autosomal, Recessive | Rost et al. 2004; Oldenburg et al. 2000 | Sibling of 607473.1.... |
| 607473.1.4 | Lebanon | Female | Yes | Yes | Antenatal intracerebral hemorrhage; In... Antenatal intracerebral hemorrhage; Increased plasma vitamin K epoxide after vitamin K supplementation | NM_024006.6:c.292C>T | Homozygous | Autosomal, Recessive | Rost et al. 2004; Oldenburg et al. 2000 | Sibling of 607473.1.... |
| 607473.1.5 | Lebanon | Male | Yes | Yes | Antenatal intracerebral hemorrhage; Inc... Antenatal intracerebral hemorrhage; Increased plasma vitamin K epoxide after vitamin K supplementation | NM_024006.6:c.292C>T | Homozygous | Autosomal, Recessive | Rost et al. 2004; Oldenburg et al. 2000 | Sibling of 607473.1.... |
Fregin et al (2002) performed a GWAS study on a Lebanese family affected with a form of Vitamin-k dependent clotting defect reported by Oldenburg et al (2000) and localized the causative locus to chromosome 16q21.