MCID: PRT012
MIFTS: 40

Prothrombin Deficiency

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Prothrombin Deficiency

MalaCards integrated aliases for Prothrombin Deficiency:

Name: Prothrombin Deficiency 12 52 25 15
Factor Ii Deficiency 12 74 52 25 71
Hypoprothrombinemia 12 25
Dysprothrombinemia 52 25
Hereditary Factor Ii Deficiency Disease 71
Inherited Prothrombin Deficiency 52
Congenital Factor Ii Deficiency 52
Hypoprothrombinemia, Inherited 52
Inherited Factor Ii Deficiency 71
Inherited Hypoprothrombinemia 52
Deficiency, Prothrombin 39

Classifications:



External Ids:

Disease Ontology 12 DOID:2235
UMLS 71 C0020640 C0272317 C3203356

Summaries for Prothrombin Deficiency

NIH Rare Diseases : 52 Prothrombin (or factor II) deficiency is a blood disorder that affects the ability of the blood to clot properly. Symptoms of the deficiency include prolonged bleeding, especially after an injury or after surgery. Women with prothrombin deficiency may have heavy menstrual bleeding . The severity of the disease can vary, with some people experiencing severe bleeding without any known cause, and others only experiencing increased bleeding after a surgery or serious injury. Prothrombin deficiency is caused by changes (mutations ) in the F2 gene . There are two types of inherited prothrombin deficiency. Type I or hypoprothrombinemia and type II or dysprothrombinemia. Inheritance of both types is autosomal recessive . Diagnosis is based on laboratory test results that are consistent with the deficiency. Treatment includes IV therapy using plasma, which is the part of the blood that contains the blood clotting factors. The blood product that is used is called fresh frozen plasma . A form of the disease that is not inherited (acquired) can be caused by vitamin K deficiency, liver disease, or an autoimmune response . The underlying cause of acquired factor II deficiency should be treated in order to relieve symptoms of the disease.

MalaCards based summary : Prothrombin Deficiency, also known as factor ii deficiency, is related to prothrombin deficiency, congenital and scott syndrome. An important gene associated with Prothrombin Deficiency is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. The drugs Thrombin and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 A blood coagulation disease that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.

Genetics Home Reference : 25 Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.

Wikipedia : 74 Thrombin (EC 3.4.21.5, fibrinogenase, thrombase, thrombofort, topical, thrombin-C, tropostasin,... more...

Related Diseases for Prothrombin Deficiency

Diseases related to Prothrombin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 253, show less)
# Related Disease Score Top Affiliating Genes
1 prothrombin deficiency, congenital 33.5 SERPINC1 F2 F10 APOH
2 scott syndrome 32.0 F2 F10
3 thrombasthenia 30.4 F3 F2
4 catastrophic antiphospholipid syndrome 30.1 F3 APOH
5 bilirubin metabolic disorder 29.9 F9 F3 F2
6 splenic disease 29.9 F3 F2
7 hemophilia 29.8 F9 F8 F7
8 endocarditis 29.7 SERPINC1 F2 APOH
9 hemophilia a 29.6 F9 F8 F7 F3
10 acquired hemophilia a 29.5 F9 F8 F3 F11
11 antiphospholipid syndrome 29.4 SERPINC1 F3 F2 F10 APOH
12 placenta disease 29.4 SERPINC1 F3 F2 APOH
13 purpura 29.2 SERPINC1 F3 F2 APOH
14 heart disease 29.1 SERPINC1 F8 F7 F3 F2
15 protein c deficiency 29.0 SERPINC1 F9 F2 APOH
16 liver cirrhosis 29.0 SERPINC1 F3 F2
17 vitamin k deficiency bleeding 29.0 SERPINC1 GGCX F9 F8 F7 F3
18 acquired hemophilia 28.9 F9 F8 F3 F11 F10
19 thrombocytopenia 28.9 SERPINC1 F9 F3 F2 F10 APOH
20 factor vii deficiency 28.8 SERPINC1 F9 F8 F7 F3 F2
21 factor xii deficiency 28.8 SERPINC1 F9 F3 F11 APOH
22 thrombophilia due to thrombin defect 28.7 SERPINC1 F8 F3 F2 F10 APOH
23 factor x deficiency 28.4 F9 F7 F3 F2 F11 F10
24 disseminated intravascular coagulation 28.2 SERPINC1 F9 F7 F3 F2 F11
25 hemorrhagic disease 28.0 SERPINC1 F9 F8 F7 F3 F2
26 pulmonary embolism 27.9 SERPINC1 F9 F8 F3 F2 F10
27 hemophilia b 27.8 SERPINC1 F9 F8 F7 F3 F2
28 factor v deficiency 27.8 MCFD2 F9 F8 F7 F3 F2
29 afibrinogenemia, congenital 27.4 SERPINC1 MCFD2 F8 F7 F3 F2
30 thrombosis 27.3 SERPINC1 F9 F8 F7 F3 F2
31 hemarthrosis 27.1 MCFD2 F9 F8 F7 F3 F2
32 acquired prothrombin deficiency 12.4
33 achenbach syndrome 10.4 F3 F2
34 renal pelvis squamous cell carcinoma 10.4 F3 F2
35 papillary adenofibroma 10.4 F3 F2
36 emphysematous cholecystitis 10.4 F3 F2
37 femoral neuropathy 10.4 F3 F2
38 hemopneumothorax 10.4 F3 F2
39 gastric hemangioma 10.4 F3 F2
40 systemic lupus erythematosus 10.4
41 ankylosing spondylitis 1 10.4 F3 F2
42 hemopericardium 10.4 F3 F2
43 epidural abscess 10.4 F3 F2
44 mediastinitis 10.4 F3 F2
45 cerebral falx meningioma 10.4 F3 F2
46 intracranial hypotension 10.4 F3 F2
47 splenic sequestration 10.4 F3 F2
48 acute hemorrhagic encephalitis 10.3 F3 F2
49 analbuminemia 10.3 F3 F2
50 alkhurma hemorrhagic fever 10.3 F8 F3
51 thoracic outlet syndrome 10.3 SERPINC1 F2
52 hantavirus pulmonary syndrome 10.3 F3 F2
53 intracranial hypertension, idiopathic 10.3 F3 F2
54 abducens nerve disease 10.3 SERPINC1 F2
55 branch retinal artery occlusion 10.3 SERPINC1 F2
56 anuria 10.3 F3 F2
57 vulvar angiokeratoma 10.3 SERPINC1 F3
58 mastoiditis 10.3 SERPINC1 F2
59 central retinal artery occlusion 10.3 SERPINC1 F2
60 primary thrombocytopenia 10.3 F3 F2
61 tricuspid valve insufficiency 10.3 F3 F2
62 tricuspid valve disease 10.3 F3 F2
63 angiodysplasia 10.3 F8 F3
64 high molecular weight kininogen deficiency 10.3 F3 F11
65 cecal disease 10.2 F3 F2
66 aspiration pneumonia 10.2 F3 F2
67 occlusion precerebral artery 10.2 F3 F11
68 posterior cerebral artery infarction 10.2 F9 F3
69 dysfibrinogenemia, congenital 10.2 SERPINC1 F2
70 qualitative platelet defect 10.2 F7 F3 F2
71 adhesive otitis media 10.2 F9 F7
72 cortical blindness 10.2 F3 F2
73 active peptic ulcer disease 10.2 F7 F3 F2
74 pericardium disease 10.2 F3 F2
75 multicentric castleman disease 10.2 F8 F3
76 von willebrand disease, type 1 10.2 F8 F3 F2
77 congenital disorder of glycosylation, type ia 10.2 SERPINC1 F9
78 blue toe syndrome 10.2 SERPINC1 F3 F2
79 lateral sinus thrombosis 10.2 SERPINC1 F3 F2
80 giant hemangioma 10.2 SERPINC1 F3 F2
81 waterhouse-friderichsen syndrome 10.2 SERPINC1 F3 F2
82 cavernous sinus thrombosis 10.2 SERPINC1 F3 F2
83 lemierre's syndrome 10.2 SERPINC1 F3 F2
84 intracranial sinus thrombosis 10.2 SERPINC1 F3 F2
85 hypersplenism 10.1 SERPINC1 F2
86 sagittal sinus thrombosis 10.1 SERPINC1 F3 F2
87 intracranial embolism 10.1 SERPINC1 F3 F2
88 autoimmune disease 10.1
89 graves disease 1 10.1
90 liver disease 10.1
91 hyperthyroidism 10.1
92 hepatic coma 10.1 SERPINC1 F3 F2
93 esophageal varix 10.1 SERPINC1 F3 F2
94 mitral valve stenosis 10.1 SERPINC1 F3 F2
95 cholesterol embolism 10.1 SERPINC1 F7 F2
96 endocardium disease 10.1 SERPINC1 F3 F2
97 hepatic vascular disease 10.1 SERPINC1 F3 F2
98 blood protein disease 10.1 SERPINC1 F3 F2
99 moyamoya disease 1 10.1 SERPINC1 F3 F2
100 placental insufficiency 10.1 SERPINC1 F3 F2
101 heart conduction disease 10.1 SERPINC1 F3 F2
102 hemolytic-uremic syndrome 10.1 SERPINC1 F3 F2
103 thrombocytosis 10.1 SERPINC1 F3 F2
104 mycoplasma pneumoniae pneumonia 10.1 F8 F3
105 atrial heart septal defect 10.1 SERPINC1 F3 F2
106 peripheral vascular disease 10.1 SERPINC1 F3 F2
107 hepatic veno-occlusive disease 10.1 SERPINC1 F8 F3
108 myeloma, multiple 10.1
109 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
110 deficiency anemia 10.1
111 diarrhea 10.1
112 gastroenteritis 10.1
113 acute kidney failure 10.1
114 lymphopenia 10.1
115 herpes zoster 10.1
116 intermediate coronary syndrome 10.1 SERPINC1 F3
117 cerebral palsy 10.0 SERPINC1 F7 F2
118 essential thrombocythemia 10.0 SERPINC1 F3 F2
119 autosomal recessive disease 10.0
120 buerger disease 10.0 F2 APOH
121 x-linked recessive disease 10.0 F9 F8 F3
122 heparin-induced thrombocytopenia 10.0 SERPINC1 F3 F10
123 leech infestation 10.0 SERPINC1 F3 F10
124 cerebral sinovenous thrombosis 10.0 F3 F2 APOH
125 carotid artery thrombosis 10.0 SERPINC1 F3 F10
126 synovial angioma 10.0 F8 F7 F3 F2
127 factor v and factor viii, combined deficiency of, 2 9.9 MCFD2 F8
128 lupus erythematosus 9.9
129 dic in newborn 9.9 SERPINC1 F7 F3 F2
130 legg-calve-perthes disease 9.9 SERPINC1 APOH
131 coronary thrombosis 9.9 SERPINC1 F7 F3 F2
132 spinal cord infarction 9.9 SERPINC1 F2 APOH
133 sudden sensorineural hearing loss 9.9 SERPINC1 F2 APOH
134 fournier gangrene 9.9 SERPINC1 F8 F3 F2
135 livedoid vasculitis 9.9 SERPINC1 F2 APOH
136 alcohol dependence 9.9
137 pernicious anemia 9.9
138 schistosoma mansoni infection, susceptibility/ 9.9
139 celiac disease 1 9.9
140 hypervitaminosis a 9.9
141 mycobacterium tuberculosis 1 9.9
142 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
143 myelodysplastic syndrome 9.9
144 exanthem 9.9
145 adult t-cell leukemia 9.9
146 infective endocarditis 9.9
147 sleeping sickness 9.9
148 tonsillitis 9.9
149 protein-losing enteropathy 9.9
150 interstitial nephritis 9.9
151 pertussis 9.9
152 protein-energy malnutrition 9.9
153 primary biliary cirrhosis 9.9
154 pancytopenia 9.9
155 megaloblastic anemia 9.9
156 cholestasis 9.9
157 schistosomiasis 9.9
158 thrombocytopenia due to platelet alloimmunization 9.9
159 autoimmune hepatitis 9.9
160 transient arthritis 9.9
161 agammaglobulinemia 9.9
162 acute pancreatitis 9.9
163 pulmonary tuberculosis 9.9
164 cystadenocarcinoma 9.9
165 pseudohypoaldosteronism 9.9
166 uremia 9.9
167 nutritional deficiency disease 9.9
168 pneumonia 9.9
169 congestive heart failure 9.9
170 t-cell lymphoblastic leukemia/lymphoma 9.9
171 thyroiditis 9.9
172 osteoarthritis 9.9
173 vasculitis 9.9
174 alopecia 9.9
175 periostitis 9.9
176 granulocytopenia 9.9
177 leukemia, t-cell, chronic 9.9
178 anoxia 9.9
179 rare hemorrhagic disorder 9.9
180 transient pseudohypoaldosteronism 9.9
181 post-thrombotic syndrome 9.9 SERPINC1 F8 F3 F2
182 ischemic colitis 9.9 SERPINC1 F2 APOH
183 beta-thalassemia 9.9 SERPINC1 F2 F10
184 retinal vascular occlusion 9.9 SERPINC1 F2 APOH
185 eclampsia 9.9 SERPINC1 F2 APOH
186 placental abruption 9.9 SERPINC1 F2 APOH
187 intermittent claudication 9.9 SERPINC1 F2 APOH
188 nonarteritic anterior ischemic optic neuropathy 9.9 SERPINC1 F2 APOH
189 homocysteinemia 9.9 SERPINC1 F2 APOH
190 thrombotic thrombocytopenic purpura 9.9 SERPINC1 F3 APOH
191 pyoderma gangrenosum 9.8 F3 APOH
192 carotid artery occlusion 9.8 F8 F11 APOH
193 thrombocytopenic purpura, autoimmune 9.8
194 follicular lymphoma 9.8
195 lymphoma 9.8
196 obstructive jaundice 9.8
197 arthropathy 9.8
198 scabies 9.8
199 prothrombin-related thrombophilia 9.8
200 heparin cofactor ii deficiency 9.8
201 coumarin resistance 9.8 MCFD2 F9
202 hypothyroidism 9.8 F9 F8 F3 F2
203 behcet syndrome 9.8 SERPINC1 F2 APOH
204 atrial fibrillation 9.7 SERPINC1 F3 F2 F10
205 retinal vein occlusion 9.7 SERPINC1 F3 F2 APOH
206 acute myocardial infarction 9.7 SERPINC1 F7 F3 F10
207 hepatic infarction 9.7 SERPINC1 F3 F2 APOH
208 marantic endocarditis 9.7 SERPINC1 F3 F2 APOH
209 splenic infarction 9.7 SERPINC1 F3 F2 APOH
210 papilledema 9.7 SERPINC1 F3 F2 APOH
211 peripheral vertigo 9.7 SERPINC1 F3 F2 APOH
212 purpura fulminans 9.7 SERPINC1 F3 F2 APOH
213 autoimmune disease of cardiovascular system 9.7 SERPINC1 F3 F2 APOH
214 takayasu arteritis 9.7 SERPINC1 F3 F2 APOH
215 alpha-2-plasmin inhibitor deficiency 9.7 SERPINC1 F8 F7 F3 F2
216 hellp syndrome 9.7 SERPINC1 F3 F2 APOH
217 portal vein thrombosis 9.7 SERPINC1 F7 F2 APOH
218 compartment syndrome 9.7 SERPINC1 F8 F7 F3 F2
219 patent foramen ovale 9.7 SERPINC1 F3 F2 APOH
220 vein disease 9.7 SERPINC1 F8 F7 F3 F2
221 cerebrovascular disease 9.7 F8 F7 F2 APOH
222 brachydactyly, type d 9.6 MCFD2 F9 F8
223 insulin-like growth factor i 9.6
224 macroglobulinemia 9.6
225 hypoglycemia 9.6
226 cardiac tamponade 9.6 F9 F8 F7 F3 F2
227 bernard-soulier syndrome 9.6 F9 F8 F7 F3 F2
228 acquired von willebrand syndrome 9.5 F9 F8 F7 F3 F11
229 budd-chiari syndrome 9.5 SERPINC1 F7 F3 F2 APOH
230 central retinal vein occlusion 9.4 SERPINC1 F8 F3 F2 APOH
231 puerperal pulmonary embolism 9.4 SERPINC1 F11 F10 APOH
232 vascular disease 9.4 SERPINC1 F8 F3 F2 APOH
233 pre-eclampsia 9.4 SERPINC1 F8 F3 F2 APOH
234 intracranial hypertension 9.4 SERPINC1 F9 F3 F2 APOH
235 sneddon syndrome 9.3 SERPINC1 F9 F8 F2 APOH
236 retinal artery occlusion 9.3 SERPINC1 F9 F8 F2 APOH
237 antithrombin iii deficiency 9.3 SERPINC1 F3 F2 F10 APOH
238 von willebrand's disease 9.3 F9 F8 F7 F3 F2 F11
239 glanzmann thrombasthenia 9.2 F9 F8 F7 F3 F2 F10
240 thrombophlebitis 9.2 SERPINC1 F8 F7 F3 F2 APOH
241 intracranial thrombosis 9.1 SERPINC1 F8 F3 F2 F10 APOH
242 protein s deficiency 9.1 SERPINC1 F8 F3 F2 F10 APOH
243 blood platelet disease 8.8 SERPINC1 F8 F7 F3 F2 F10
244 factor xiii deficiency 8.7 SERPINC1 MCFD2 F9 F8 F7 F3
245 thrombophilia due to activated protein c resistance 8.7 SERPINC1 F9 F8 F3 F2 F10
246 stroke, ischemic 8.7 SERPINC1 F9 F7 F3 F2 F10
247 inherited blood coagulation disease 8.6 SERPINC1 F9 F8 F7 F3 F2
248 factor xi deficiency 8.6 SERPINC1 F9 F8 F7 F3 F2
249 pulmonary artery disease 8.5 SERPINC1 F8 F7 F3 F2 F11
250 factor viii deficiency 8.3 MCFD2 F9 F8 F7 F3 F2
251 thrombophilia 8.2 SERPINC1 F9 F8 F7 F3 F2
252 blood coagulation disease 8.2 SERPINC1 F9 F8 F7 F3 F2
253 myocardial infarction 8.2 SERPINC1 F9 F8 F7 F3 F2

Graphical network of the top 20 diseases related to Prothrombin Deficiency:



Diseases related to Prothrombin Deficiency

Symptoms & Phenotypes for Prothrombin Deficiency

MGI Mouse Phenotypes related to Prothrombin Deficiency:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 F10 F11 F2 F3 F7 F9
2 homeostasis/metabolism MP:0005376 9.7 APOH F10 F11 F2 F3 F7
3 mortality/aging MP:0010768 9.32 APOH F10 F11 F2 F3 F7

Drugs & Therapeutics for Prothrombin Deficiency

Drugs for Prothrombin Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 8, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 2
2
Warfarin Approved Phase 1, Phase 2 81-81-2 6691 54678486
3 Liver Extracts Phase 2
4 Hemostatics Phase 2
5 Coagulants Phase 2
6 Anticoagulants Phase 1, Phase 2
7 Anti-Bacterial Agents
8 Antibiotics, Antitubercular

Interventional clinical trials:

(showing 5, show less)
# Name Status NCT ID Phase Drugs
1 A Phase II, Double-blinded, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Vitalliver in Patients With Decompensated Cirrhosis Completed NCT00562783 Phase 2 Vitaliver;Placebo
2 REPlaCE- Randomized Trial Evaluating the Use of Prothrombin Complex concEntrate to Improve Survival in Patients With Traumatic Coagulopathy Not yet recruiting NCT03981484 Phase 2
3 A Single-site, Randomized Controlled Feasibility Trial of the Fearon Algorithm to Improve Management of Patients With Unstable Warfarin Effect. Terminated NCT02267408 Phase 1, Phase 2
4 Antibiotic-associated Coagulopathy Unknown status NCT02172833
5 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Unknown status NCT03273998

Search NIH Clinical Center for Prothrombin Deficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


menadiol
Menadiol sodium phosphate
nonacog alfa
Vitamin K 1
Vitamin K 3

Genetic Tests for Prothrombin Deficiency

Anatomical Context for Prothrombin Deficiency

MalaCards organs/tissues related to Prothrombin Deficiency:

40
Liver, Brain, Testes, Colon, Ovary

Publications for Prothrombin Deficiency

Articles related to Prothrombin Deficiency:

(showing 128, show less)
# Title Authors PMID Year
1
Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study. 52 61
28665815 2017
2
A case report of severe bleeding due to lupus anticoagulant hypoprothrombinemia syndrome. 61
31515751 2020
3
Lupus anticoagulant-hypoprothrombinemia syndrome and immunoglobulin-A vasculitis: a report of Japanese sibling cases and review of the literature. 61
31392497 2019
4
Autoimmune Diseases and Rosai-Dorfman Disease Coexist More Commonly than Expected: Two Case Reports. 61
31147530 2019
5
Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed. 61
28762299 2018
6
Inherited factor II deficiency with paradoxical hypercoagulability: a case report. 61
29389674 2018
7
Heparin, coumarin, protein C, antithrombin, fibrinolysis and other clotting related resistances: old and new concepts in blood coagulation. 61
29063359 2018
8
Lupus anticoagulant - hypoprothrombinemia syndrome: a rare cause of intracranial bleeding. 61
28009646 2017
9
New clotting disorders that cast new light on blood coagulation and may play a role in clinical practice. 61
28251495 2017
10
Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran. 61
27894217 2017
11
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions. 61
28388959 2017
12
A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. 61
26886363 2017
13
Lupus anticoagulant-hypoprothrombinemia syndrome presenting with co-existing cerebral venous thrombosis and subdural hemorrhage. 61
27743753 2016
14
Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies. 61
27380476 2016
15
Lupus anticoagulant acquired hypoprothrombinemia syndrome in childhood: two distinct patterns and review of the literature. 61
25929557 2015
16
A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 61
25242243 2014
17
Thrombin drives tumorigenesis in colitis-associated colon cancer. 61
24710407 2014
18
Immune-mediated disorders causing bleeding or thrombosis in lymphoproliferative diseases. 61
24615692 2014
19
Pulmonary hemorrhage in pediatric lupus anticoagulant hypoprothrombinemia syndrome. 61
24868219 2014
20
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review. 61
25275492 2014
21
Congenital prothrombin deficiency: an update. 61
23852823 2013
22
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. 61
23711336 2013
23
Congenital factor II deficiency: moroccan cases. 61
23190616 2013
24
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. 61
23152198 2013
25
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. 61
22392504 2012
26
Lupus anticoagulant-hypoprothrombinemia syndrome: report of 8 cases and review of the literature. 61
22932789 2012
27
[Analysis of phenotype and genotype in a Chinese pedigree with inherited prothrombin deficiency resulted from a homozygous mutation Tyr510Asp]. 61
22967428 2012
28
A Rare Case of Inherited Factor-II Deficiency Causing Life-Threatening Menorrhagia. 61
23439950 2012
29
Bleeding in the antiphospholipid syndrome. 61
22507807 2012
30
Acquired hypoprothrombinemia inducing bleeding in a girl with transient antiphospholipid antibody: case report. 61
22435262 2012
31
A severe neonatal presentation of factor II deficiency. 61
21692854 2011
32
Prophylaxis in severe prothrombin deficiency. 61
20950404 2011
33
Hereditary prothrombin deficiency. 61
19750864 2009
34
Congenital prothrombin deficiency. 61
19598065 2009
35
Hemospermia in patients with congenital coagulation disorders: a study of three cases. 61
19332986 2009
36
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. 61
19141155 2008
37
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. 61
18306360 2008
38
Acquired prothrombin deficiency in a patient with follicular lymphoma. 61
18355267 2008
39
Control of ovulation-induced hemoperitoneum by oral contraceptives in a patient with congenital hypoprothrombinemia and in another with congenital factor V deficiency. 61
18583905 2008
40
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). 61
18852482 2008
41
Steady improvement of prothrombin levels after cyclophosphamide therapy in pediatric lupus anticoagulant hypoprothrombinemia syndrome (LAHPS). 61
17516128 2007
42
A second case of prothrombin Puerto Rico I in the United States. 61
17160994 2007
43
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. 61
17002658 2006
44
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. 61
17083522 2006
45
Thromboembolism complicating the treatment of lupus anticoagulant hypoprothrombinemia syndrome. 61
16924686 2006
46
Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia. 61
16503555 2006
47
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. 61
16543981 2006
48
Pregnancy and oral contraceptives in congenital bleeding disorders of the vitamin K-dependent coagulation factors. 61
16424651 2006
49
Retinal haemorrhages in premature infants: a pathogenetic alternative diagnosis to child abuse. 61
16029264 2005
50
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation. 61
15892853 2005
51
Life-threatening bleeding, pregnancy and lupus anticoagulant: success after steroid and anticoagulant therapy. 61
15274653 2004
52
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). 61
15284583 2004
53
Combined deficiency of protease-activated receptor-4 and fibrinogen recapitulates the hemostatic defect but not the embryonic lethality of prothrombin deficiency. 61
14504091 2004
54
Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly. 61
14962227 2004
55
Knockdown of prothrombin in zebrafish. 61
14757435 2004
56
A common mutation, Arg457-->Gln, links prothrombin deficiencies in the Puerto Rican population. 61
14629473 2003
57
[Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene]. 61
14575584 2003
58
Rescue of prothrombin-deficiency by transgene expression in mice. 61
12529749 2002
59
Bullous hematoma of the palm: an unusual complication of scabies in a child with congenital prothrombin deficiency. 61
12437569 2002
60
Diagnosis of lupus anticoagulant in the lupus anticoagulant-hypoprothrombinemia syndrome: report of two cases and review of the literature. 61
12410576 2002
61
[Phenotypic healing of factor II deficiency by liver transplantation]. 61
12426720 2002
62
Acquired bleeding disorder in a patient with malignant lymphoma: antibody-mediated prothrombin deficiency. 61
11241228 2001
63
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. 61
11154146 2000
64
Hirudin determination in plasma can be strongly influenced by the prothrombin level. 61
11053617 2000
65
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. 61
10706027 1999
66
Two novel mutations in the prothrombin gene cause severe bleeding in a compound heterozygous patient. 61
9890721 1998
67
Congenital deficiencies and abnormalities of prothrombin. 61
9863703 1998
68
Prothrombin deficiency results in embryonic and neonatal lethality in mice. 61
9636195 1998
69
Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. 61
9636196 1998
70
The biology of prothrombin. 61
9714898 1998
71
Catastrophic haemorrhage in a case of paediatric primary antiphospholipid syndrome and factor II deficiency. 61
9116722 1997
72
Prothrombin deficiency and hemorrhage associated with a lupus anticoagulant. 61
8980268 1997
73
Acquired hypoprothrombinemia: effects of danazol treatment. 61
8948670 1996
74
[Intracranial hemorrhage in congenital factor II deficiency]. 61
8668601 1995
75
Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder. 61
7740448 1994
76
Transient lupus anticoagulant associated with prothrombin deficiency: unusual cause of bleeding in a 5-year-old girl. 61
7978060 1994
77
Hypoprothrombinemia in childhood systemic lupus erythematosus. 61
7985033 1994
78
Combined inherited protein S and heparin co-factor II deficiency in a patient with upper limb thrombosis: a family study. 61
1440513 1992
79
Transient acquired factor II deficiency with Mycoplasma pneumoniae infection. 61
1856497 1991
80
Hypoprothrombinemia (factor II deficiency): report of a case and review of literature. 61
1824640 1991
81
Kinetic analysis of the clotting system in the presence of heparin and depolymerized heparin. 61
1650744 1991
82
Acquired protein C and S deficiency, inflammatory bowel disease and cerebral arterial thrombosis. 61
2148695 1990
83
Detection of the carrier state in congenital "true" prothrombin deficiency. 61
3354565 1988
84
Correction of hypoprothrombinemia by immunosuppressive treatment of the lupus anticoagulant-hypoprothrombinemia syndrome. 61
3116849 1987
85
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. 61
3115223 1987
86
Association of hereditary heparin co-factor II deficiency with thrombosis. 61
2863444 1985
87
Constitutional heparin co-factor II deficiency associated with recurrent thrombosis. 61
2863445 1985
88
Acquired hypoprothrombinemia due to non-neutralizing antibodies to prothrombin: mechanism and management. 61
3995183 1985
89
[Massive hemoperitoneum, endogenous prothrombin deficiency and polycystic ovary]. 61
4089452 1985
90
Prenatal diagnosis of hemoglobinopathies by DNA analysis. 61
2998637 1985
91
Thrombotic and hemorrhagic complications in children with the lupus anticoagulant. 61
6439032 1984
92
Abnormal prothrombin crossed-immunoelectrophoresis in patients with lupus inhibitors. 61
6434005 1984
93
[Antiprothrombinase anticoagulant and acquired prothrombin deficiency in childhood viral pathology. Spontaneous recovery]. 61
6487045 1984
94
[Transient anomaly of coagulation in a viral disease. Association of acquired factor II deficiency with antiprothrombinase anticoagulant]. 61
6326085 1984
95
The lupus inhibitor in thromboembolic disease and intrauterine death in the absence of systemic lupus. 61
6428168 1984
96
[Behavior of factor II levels in heterozygotes for prothrombin deficiency]. 61
6474311 1984
97
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. 61
6409139 1983
98
Prothrombin deficiency in a cocker spaniel. 61
6980872 1982
99
[Antiprothrombinase type of circulating anticoagulants during acute disseminated lupus erythematosus]. 61
6985316 1982
100
Antiprothrombinase and factor II deficiency in a non SLE patient. 61
7314062 1981
101
Chromogenic substrate (S-2238) prothrombin assay in prothrombin deficiencies and abnormalities. Lack of identity with clotting assays in congenital dysprothrombinemias. 61
7395819 1980
102
Inherited bleeding syndromes in Jordan. 61
105540 1979
103
Prothrombin Molise: a "new" congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and "true" prothrombin deficiency. 61
418829 1978
104
[Primary macroglobulinemia (Waldenstrom) with factor II deficiency and hypocomplementemia]. 61
95992 1978
105
Inherited bleeding syndromes in Iraq. 61
302041 1977
106
The "echis carinatus venom" prothrombin assay in coumarin treated patients. A comparison with one-stage and immunological assays. 61
64416 1976
107
Bleeding disorder in an infant associated with anicteric hepatitis. Acquired prothrombin deficiency. 61
4434662 1974
108
Hereditary prothrombin deficiency. 61
4982446 1970
109
Christmas disease associated with prothrombin deficiency and thrombasthenia. 61
5350280 1969
110
A STUDY OF THREE CASES OF FAMILIAL CONGENITAL HYPOPROTHROMBINAEMIA (FACTOR II DEFICIENCY). 61
14194114 1964
111
Severe isolated prothrombin deficiency: an acquired state with complete recovery. 61
13962584 1962
112
[Therapy of prothrombin deficiency hemorrhage in newborn]. 61
13423524 1956
113
Idiopathic steatorrhea with hemorrhagic manifestations due to prothrombin deficiency. 61
13236055 1955
114
[Idiopathic hemorrhagic disease due to factor VII and prothrombin deficiency]. 61
13234283 1954
115
[Effects of vitamin K1 on factor VII and prothrombin deficiency in newborn]. 61
14360255 1954
116
The measurement of prothrombin in plasma; a case of prothrombin deficiency. 61
13034913 1953
117
[Subarachnoid hemorrhage due to prothrombin deficiency]. 61
13045834 1952
118
CLINICO-pathological conference; diffuse nodular cirrhosis and subacute hepatitis; icterus; cerebral edema and probable prothrombin deficiency. 61
15434966 1950
119
Prothrombin deficiency of the newborn. 61
18129082 1949
120
The nature of the prothrombin deficiency in dicoumarin plasma. 61
18130447 1949
121
The Use of Synthetic Vitamin K Substitutes in the Treatment of Prothrombin Deficiency. 61
20322499 1942
122
CLINICAL SIGNIFICANCE OF PROTHROMBIN DEFICIENCY AND ITS TREATMENT. 61
17857921 1941
123
Prothrombin Deficiency in Disease of the Liver and Bile Passages, and its Treatment with Synthetic Vitamin K. 61
20783619 1941
124
HAEMORRHAGIC TENDENCY ASSOCIATED WITH PROTHROMBIN DEFICIENCY AND ITS TREATMENT WITH VITAMIN K AND BILE. 61
20321723 1940
125
PROTHROMBIN DEFICIENCY AND THE EFFECTS OF VITAMIN K IN OBSTRUCTIVE JAUNDICE AND BILIARY FISTULA. 61
17857347 1939
126
BLEEDING TENDENCY AND PROTHROMBIN DEFICIENCY IN BILIARY FISTULA DOGS: EFFECT OF FEEDING BILE AND VITAMIN K. 61
19870764 1938
127
PROTHROMBIN DEFICIENCY AND THE BLEEDING TENDENCY IN LIVER INJURY (CHLOROFORM INTOXICATION). 61
19870699 1937
128
PROTHROMBIN DEFICIENCY THE CAUSE OF BLEEDING IN BILE FISTULA DOGS. 61
19870504 1936

Variations for Prothrombin Deficiency

Expression for Prothrombin Deficiency

Search GEO for disease gene expression data for Prothrombin Deficiency.

Pathways for Prothrombin Deficiency

Pathways related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

(showing 7, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 MCFD2 GGCX F9 F8 F7 F2
2
Show member pathways
13.05 SERPINC1 F9 F8 F7 F3 F2
3
Show member pathways
12.58 SERPINC1 F9 F8 F7 F3 F2
4
Show member pathways
11.8 GGCX F9 F7 F2 F10
5
Show member pathways
11.76 SERPINC1 F9 F8 F7 F3 F2
6 11.39 SERPINC1 F9 F8 F7 F3 F2
7 10.73 GGCX F9 F7 F2 F10

GO Terms for Prothrombin Deficiency

Cellular components related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 SERPINC1 F9 F8 F7 F3 F2
2 collagen-containing extracellular matrix GO:0062023 9.63 SERPINC1 F9 F7 F3 F2 APOH
3 Golgi lumen GO:0005796 9.62 F9 F7 F2 F10
4 extracellular space GO:0005615 9.61 SERPINC1 F9 F8 F7 F3 F2
5 intrinsic component of external side of plasma membrane GO:0031233 9.4 F3 F10
6 serine-type peptidase complex GO:1905286 9.37 F7 F3
7 endoplasmic reticulum lumen GO:0005788 9.1 SERPINC1 F9 F8 F7 F2 F10

Biological processes related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.85 F9 F7 F2 F11 F10
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 MCFD2 F9 F8 F7 F2 F10
3 positive regulation of cell migration GO:0030335 9.72 F7 F3 F10
4 positive regulation of protein kinase B signaling GO:0051897 9.7 F7 F3 F10
5 positive regulation of blood coagulation GO:0030194 9.58 F7 F2 APOH
6 regulation of blood coagulation GO:0030193 9.56 SERPINC1 F2 F11 APOH
7 hemostasis GO:0007599 9.56 SERPINC1 F9 F8 F7 F3 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.55 F9 F8 F2 F11 APOH
9 acute-phase response GO:0006953 9.54 F8 F2
10 blood coagulation, extrinsic pathway GO:0007598 9.54 F7 F3 F10
11 positive regulation of positive chemotaxis GO:0050927 9.51 F7 F3
12 plasminogen activation GO:0031639 9.49 F11 APOH
13 negative regulation of fibrinolysis GO:0051918 9.48 F2 APOH
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F7 F3
15 blood coagulation GO:0007596 9.28 SERPINC1 GGCX F9 F8 F7 F3

Molecular functions related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.72 MCFD2 F9 F7 F2 F10
2 peptidase activity GO:0008233 9.65 F9 F7 F2 F11 F10
3 phospholipid binding GO:0005543 9.54 F3 F10 APOH
4 heparin binding GO:0008201 9.46 SERPINC1 F2 F11 APOH
5 serine-type peptidase activity GO:0008236 9.35 F9 F7 F2 F11 F10
6 serine-type endopeptidase activity GO:0004252 9.1 F9 F7 F3 F2 F11 F10

Sources for Prothrombin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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