hereditary combined deficiency of vitamin K-dependent clotting factors

A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation.

vitamin K deficiency bleeding

A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.

combined deficiency of vitamin K-dependent clotting factors 2

A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2.

autosomal dominant chondrodysplasia punctata

A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.

combined deficiency of vitamin K-dependent clotting factors 1

A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2.

dystonia 12

A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.

psoriasis 1

A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33.

COX deficiency, benign infantile mitochondrial myopathy

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

COX deficiency, infantile mitochondrial myopathy

A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Charcot-Marie-Tooth disease type 2B1

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.