Copyright
©The Author(s) 2017.
World J Clin Cases. Jun 16, 2017; 5(6): 191-202
Published online Jun 16, 2017. doi: 10.12998/wjcc.v5.i6.191
Published online Jun 16, 2017. doi: 10.12998/wjcc.v5.i6.191
Table 4 Classification for genetic disorders associated with hemorrhagic stroke[35]
Coagulation | Genetic pattern | Inheritance | Gene |
Congenital deficiencies of clotting factors | |||
Factor VIII | Monogenic | X-link R | Xq28 |
Factor IX | Monogenic | X-link R | Xq27.1-q27.2 |
Factor XIII | Monogenic | AR | 6p25-p24 |
Factor VII | Monogenic | AR | 13q34 |
Factor X | Monogenic | AR | 3q34 |
Factor XI | Monogenic | AR | 4q35 |
Afibrinogenemia | Monogenic | AR | 4q28 |
Polymorphism of clotting factors | 1q23 | ||
Factor V Leiden (G1619A) | Polymorphism | ||
Factor XIII Val34Leu | Polymorphism | 6p25-p24 | |
Factor XIII Tyr204Phe | Polymorphism | 6p25-p24 | |
Factor XIII Pro564Leu | Polymorphism | 6p25-p24 | |
Factor VII-323Del/Ins | Polymorphism | 13q34 | |
PAI-I 4G/5G | Polymorphism | 7q21.3-q22 | |
Platelet disorders | |||
Thrombocytopenia-absent radius | Monogenic | AR | ? |
Wiskott-Aldrich syndrome | Monogenic | X-link R | Xp11.23-p11.22 |
Bernard-Soulier syndrome | Monogenic | AD | 22p11.2-17pter-p12 |
Glanzmann thrombasthenia | Monogenic | AR | 17q21.32 |
Storage pool deficiency | Genetic heterogeneity | ||
Sickle-cell disease | Monogenic | AR | Mutation A→T, Glu6Val in beta chain of hemoglobin 11p15.5 |
Vascular malformations | |||
Multiple cavernomatosis | Polygenic | ||
CCM1 | AD | 7q11.2-q21 | |
CCM2 | AD | 7p15-13 | |
CCM3 | AD | 3q25.2-27 | |
Arteriovenous malformations | ? | ? | ? |
Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber) | Polygenic | ||
THH type 1 | AD | Endoglin gene, 9q | |
THH type 2 | AD | Activin receptor-likekinase, 12q | |
Von Hippel-Lindau disease | Monogenic | AD | 3p26-p25 |
Bannayan-Zonana syndrome | Monogenic | AD | 10q23.3 |
Familial venous malformations | Monogenic | AD | Mutation gene Tie-2, 9p |
Cerebral aneurysms and SAH | Polygenic | ? | Ligament 5q22-q31 |
Ligament 7q11 | |||
Ligament 14q22 | |||
Alpha-1 antitrypsin | Polymorphism | Alleles Z and S, 14q32.1 | |
Endoglin gene | Polymorphism | Intron insertion 7, 9q | |
MMP-9 gene | Polymorphism | -736 (CA)23 9q34.1 | |
Connective tissue disorders | |||
Ehlers-Danlos type IV syndrome | Monogenic (genetic heterogeneity) | AD | Mutations Collagen gene type III (COL3·A1) 2q31 |
Marfan syndrome | Polygenic | AD | Gene fibrillin-1 15q21.1 |
Polygenic | AD | 3p24.2-p25 | |
Polycystic kidney disease | |||
ADPKD 1 | AD | 16p13.3 | |
ADPKD 2 | AD | 4q13-23 | |
ADPKD 3 | AD | ? | |
ARPKD | AR | 6p21.1-p12 | |
Pseudoxanthoma elasticum | Polygenic | AR & AD | 16p13.1? |
Neurofibromatosis type I | Monogenic (genetic heterogeneity) | AD | 17q11.2 |
Tuberous sclerosis | Polygenic | AD | TSC1 9q34 |
AD | TSC2 16p13 | ||
AD | TSC3 and TSC4? | ||
Vasculopathies | |||
Fibromuscular dysplasia | Polygenic? | AD? | ? |
Moya-moya disease | Polygenic | AD/AR? | 3p24.2-p26 |
AD/AR? | 17q25 | ||
CADASIL | Monogenic | AD | Notch3, 19p12 |
Metabolic disorders | |||
Fabry disease | Monogenic | X-link R | GLA Xq21.3-22 |
MELAS | mitochondrial | ||
Amyloidosis related genes | |||
Hereditary cerebral hemorrhage with amyloidosis | |||
Dutch type | Monogenic (genetic heterogeneity) | AD | Mutations amyloid-beta precursos protein, 21q21 |
Icelandic type | Monogenic | AD | Substitution Leu68 → GlnCystatin C gene, 20p11.2 |
Cerebral amyloid angiopathy | ? | ? | APOE, alleles E2, E4 |
19q13.2 | |||
Transtiretine gene | Monogenic | AD | 18q11.2-q12.1 |
Genes and HTA | Polygenic |
- Citation: Arboix A, Obach V, Sánchez MJ, Massons J. Complementary examinations other than neuroimaging and neurosonology in acute stroke. World J Clin Cases 2017; 5(6): 191-202
- URL: https://www.wjgnet.com/2307-8960/full/v5/i6/191.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v5.i6.191