FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY

Question 1

What is  FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY?

Accepted Answer

very rare
autosomal recessive
- intestinal absorption/transport of vitamin K
- mutations in the gamma-glutamyl carboxylase
- deficiency of the multicomplex vitamin K 2,3-epoxide reductase

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hereditärer kombinierter Mangel an Faktoren II, VII, IX und X

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 277450

Question 4

Which enzymes are involved?

Accepted Answer

Vitamin K-dependent gamma-carboxylase

Disease	FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY
Synonym	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
OMIM	277450 OMIM = Online Mendelian Inheritance of Men
Orphanet	98434
Protein (UniProt)	Vitamin K-dependent gamma-carboxylase
ExPASy	4.1.1.90
Gene locus	2q11.2
ICD	D68.28
Summary	very rare autosomal recessive - intestinal absorption/transport of vitamin K - mutations in the gamma-glutamyl carboxylase - deficiency of the multicomplex vitamin K 2,3-epoxide reductase
Laboratory findings
Symptoms	bleeding tendencies, hemorrhages Coagulopathy/Coagulation factors dysmorphism early death onset, neonatal skeletal changes, skeletal abnormalities