Congenital factor II deficiency

An inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.



Input patient's signs and symptoms


Narrow down the case reports



Total: 91 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(55.1%)
20608021
Budd-Chiari syndrome.
Bane A, Kebede D.
Ethiop Med J. 2010;48(2):169-75.
Anemia Hepatomegaly Anasarca
Anticoagulants Budd-Chiari Syndrome Combined Modality Therapy Differential Diagnosis Females Hepatomegaly Homo sapiens Male
2
(47.8%)
618954
Unusual abdominal complications of a suicidal overdose of analgesic and psychotropic drugs in an elderly patient.
Mehta D, Mehta S, Mathew P.
J Am Geriatr Soc. 1978;26(1):43-6.
Pancreatitis Anemia Metabolic acidosis
Blind Loop Syndrome Enteritis Females Gastrointestinal Diseases Homo sapiens
3
(44.7%)
30099593
Lupus anticoagulant hypoprothrombinemia syndrome associated with systemic lupus erythematosus in children: report of two cases and systematic review of the literature.
Pilania RK, Suri D, Jindal AK, Kumar N, Sharma A, Sharma P, Guleria S, Rawat A, Ahluwalia J, Singh S.
Rheumatol Int. 2018;38(10):1933-1940.
Proteinuria Anemia Malar rash
Antiphospholipid Syndrome Child Females Homo sapiens Hypoprothrombinemias Immunoglobulins Lupus Coagulation Inhibitor Lupus Erythematosus, Systemic Male
4
(44.4%)
1036036
[Intracranial hemorrhage in an infant due to vitamin K deficiency --successful management of spontaneous intracerebral and subjural hematoma].
Shirai S, Owada M, Fujita Y, Akimoto M, Hayashi M.
No To Shinkei. 1976;28(12):1359-64.
Anemia Fever Vomiting Intracranial hemorrhage
Cerebral Hemorrhage Hematoma, Subdural Homo sapiens Infant, Newborn Male Vitamin K Deficiency
5
(43.7%)
18165211
Celiac disease with diffuse cutaneous vitamin K-deficiency bleeding.
Djuric Z, Zivic S, Katic V.
Adv Ther. 2007;24(6):1286-9.
Iron deficiency anemia Diarrhea Hypoalbuminemia
Celiac Disease Child, Preschool Diet, Protein-Restricted Females Gluten Hemorrhage Homo sapiens Plasma Vitamin K Deficiency Vitamins
6
(42.4%)
6344633
Unusual manifestations of secondary syphilis occurring after orthotopic liver transplantation.
Petersen LR, Mead RH, Perlroth MG.
Am J Med. 1983;75(1):166-70.
Cirrhosis Cholestasis Thrombocytopenia Low-grade fever
Hepatitis Homo sapiens Hypoprothrombinemias Male Middle Aged Periostitis Postoperative Complications Syphilis Thrombocytopenia
7
(40.0%)
17352108
[Congenital portosystemic shunt. The Abernethy malformation].
Avila LF, Luis AL, Encinas JL, Hernandez F, Olivares P, Fernandez Cuadrado J, Hierro L, Jara P, Lopez Santamaria M, Tovar JA.
Cir Pediatr. 2006;19(4):204-9.
Hypospadias Epistaxis Portal hypertension Splenomegaly
Child, Preschool Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Portal System Syndrome
8
(38.2%)
644427
Warfarin induced necrosis of the skin.
Faraci PA, Deterling RA Jr, Stein AM, Rheinlander HF, Cleveland RJ.
Surg Gynecol Obstet. 1978;146(5):695-700.
Petechiae Edema
Females Heart Valve Prosthesis Homo sapiens Male Middle Aged Necrosis Skin Thrombophlebitis
9
(37.6%)
22484537
[Lupus anticoagulant-hypoprothrombinemia syndrome revealing systemic lupus in an 11-year old girl in a context of clinical and biological emergency].
Favier R, Kheyar T, Renolleau S, Tabone MD, Favier M, Ulinski T.
Ann Biol Clin (Paris). 2012;70(2):226-30.
Proteinuria Lymphopenia Anemia
F2
Antiphospholipid Syndrome Child Differential Diagnosis Females Hemorrhage Homo sapiens Hospitalization Hypoprothrombinemias Lupus Coagulation Inhibitor
9
(37.6%)
1561959
[A case of hematuria associated with cefem group antibiotics].
Okuno H, Okamoto K, Fukuyama T, Fujii M, Nakano T.
Hinyokika Kiyo. 1992;38(2):213-7.
Hematuria Anemia Aspiration pneumonia
Candidiasis Hematuria Homo sapiens Male Pneumonia Pneumonia, Viral Pseudomonas Infections
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0003645 Prolonged partial thromboplastin time Very frequent (99-80%)
HP:0008151 Prolonged prothrombin time Very frequent (99-80%)
HP:0012201 obsolete Reduced prothrombin activity Very frequent (99-80%)
HP:0040250 Reduced prothrombin antigen Very frequent (99-80%)
HP:0000421 Epistaxis Frequent (79-30%)
HP:0001892 Abnormal bleeding Frequent (79-30%)
HP:0002170 Intracranial hemorrhage Frequent (79-30%)
HP:0005261 Joint hemorrhage Frequent (79-30%)
HP:0000132 Menorrhagia Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0002907 Microscopic hematuria Occasional (29-5%)
HP:0006298 Prolonged bleeding after dental extraction Occasional (29-5%)
HP:0011884 Abnormal umbilical stump bleeding Occasional (29-5%)
HP:0011890 Prolonged bleeding following procedure Occasional (29-5%)
HP:0011891 Post-partum hemorrhage Occasional (29-5%)
HP:0012233 Intramuscular hematoma Occasional (29-5%)
HP:0012541 Cephalohematoma Occasional (29-5%)
HP:0030137 Prolonged bleeding following circumcision Occasional (29-5%)
HP:0030138 Excessive bleeding from superficial cuts Occasional (29-5%)
HP:0030140 Oral cavity bleeding Occasional (29-5%)
HP:0004420 Arterial thrombosis Excluded (0%)
HP:0004936 Venous thrombosis Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 37

HPO ID Term # of case reports
HP:0025343 Lupus anticoagulant 36
HP:0001873 Thrombocytopenia 6
HP:0000952 Jaundice 2
HP:0001903 Anemia 2
HP:0001942 Metabolic acidosis 2
HP:0001943 Hypoglycemia 2
HP:0002480 Hepatic encephalopathy 2
HP:0005110 Atrial fibrillation 2
HP:0000132 Menorrhagia 1
HP:0000421 Epistaxis 1
HP:0000790 Hematuria 1
HP:0000979 Purpura 1
HP:0001297 Stroke 1
HP:0001298 Encephalopathy 1
HP:0001369 Arthritis 1
HP:0001513 Obesity 1
HP:0001649 Tachycardia 1
HP:0001733 Pancreatitis 1
HP:0001824 Weight loss 1
HP:0002090 Pneumonia 1
HP:0002170 Intracranial hemorrhage 1
HP:0002239 Gastrointestinal hemorrhage 1
HP:0002240 Hepatomegaly 1
HP:0002960 Autoimmunity 1
HP:0003040 Arthropathy 1
HP:0003075 Hypoproteinemia 1
HP:0005263 Gastritis 1
HP:0005305 Cerebral venous thrombosis 1
HP:0005521 Disseminated intravascular coagulation 1
HP:0008151 Prolonged prothrombin time 1
HP:0011854 Hemoperitoneum 1
HP:0011900 Hypofibrinogenemia 1
HP:0012050 Anasarca 1
HP:0012115 Hepatitis 1
HP:0012378 Fatigue 1
HP:0100309 Subdural hemorrhage 1
HP:0100584 Endocarditis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
F2 coagulation factor II, thrombin 2147