General characteristics of recessively inherited coagulation disorders
Deficient factor and OMIM no.† . | Prevalence of homozygous forms . | Gene (size in kb) . | Chromosome location . |
|---|---|---|---|
| Fibrinogen #202400 | 1 in 1 000 000 | ||
| +134820 | FGA (7.6) | 4q31.3 | |
| *134830 | FGB (8.1) | 4q31.3 | |
| *134850 | FGG (8.5) | 4q32.1 | |
| Prothrombin | 1 in 2 000 000 | ||
| *176930 | F2 (20.3) | 11p11.2 | |
| V | 1 in 1 000 000 | ||
| *227400 | F5 (72.3) | 1q24.2 | |
| VII | 1 in 500 000 | ||
| *227500 | F7 (14.2) | 13q34 | |
| X | 1 in 1 000 000 | ||
| *227600 | F10 (26.7) | 13q34 | |
| XI | 1 in 1 000 000‡ | ||
| *264900 | F11 (22.6) | 4q35.2 | |
| XIII | 1 in 2 000 000 | ||
| +134570 | F13A (176.6) | 6p25.1 | |
| +13580 | F13B (28.0) | 1q31.3 | |
| V + VIII #227300 | 1 in 2 000 000 | ||
| *601567 | LMAN1 (29.4) | 18q21.32 | |
| *607788 | MCFD2 (13.9) | 2p21 | |
| Vitamin K—dependent | 1 in 2 000 000 | ||
| type I #277450 | |||
| *137167 | GGCX (12.4) | 2p11.2 | |
| type II #607473 | |||
| *608547 | VKORC1 (5.1) | 16p11.2 |
Deficient factor and OMIM no.† . | Prevalence of homozygous forms . | Gene (size in kb) . | Chromosome location . |
|---|---|---|---|
| Fibrinogen #202400 | 1 in 1 000 000 | ||
| +134820 | FGA (7.6) | 4q31.3 | |
| *134830 | FGB (8.1) | 4q31.3 | |
| *134850 | FGG (8.5) | 4q32.1 | |
| Prothrombin | 1 in 2 000 000 | ||
| *176930 | F2 (20.3) | 11p11.2 | |
| V | 1 in 1 000 000 | ||
| *227400 | F5 (72.3) | 1q24.2 | |
| VII | 1 in 500 000 | ||
| *227500 | F7 (14.2) | 13q34 | |
| X | 1 in 1 000 000 | ||
| *227600 | F10 (26.7) | 13q34 | |
| XI | 1 in 1 000 000‡ | ||
| *264900 | F11 (22.6) | 4q35.2 | |
| XIII | 1 in 2 000 000 | ||
| +134570 | F13A (176.6) | 6p25.1 | |
| +13580 | F13B (28.0) | 1q31.3 | |
| V + VIII #227300 | 1 in 2 000 000 | ||
| *601567 | LMAN1 (29.4) | 18q21.32 | |
| *607788 | MCFD2 (13.9) | 2p21 | |
| Vitamin K—dependent | 1 in 2 000 000 | ||
| type I #277450 | |||
| *137167 | GGCX (12.4) | 2p11.2 | |
| type II #607473 | |||
| *608547 | VKORC1 (5.1) | 16p11.2 |
Gene sizes and chromosomal locations were obtained from the UCSC Genome Browser (http://genome.ucsc.edu/).
FGA indicates fibrinogen Aα-chain gene; FGB, fibrinogen Bβ-chain gene; FGG, fibrinogen γ-chain gene; LMAN1, lectin mannose-binding 1; MCFD2, multiple coagulation factor deficiency 2; GGCX, γ-glutamyl carboxylase; and VKORC1, vitamin K epoxide reductase complex subunit 1. # indicates a descriptive locus that does not represent a unique locus; +, an entry that contains the description of a gene of known sequence and aphenotype; and *, a gene of known sequence.
Online Mendelian Inheritance in Man is the largest registry of human genetic diseases (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM).
Much more prevalent in countries with large Jewish communities.