Hemophilia B

Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.



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Narrow down the case reports



Total: 116 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(54.2%)
11035271
Three episodes of delayed hemolytic transfusion reactions due to multiple red cell antibodies, anti-Di, anti-Jk and anti-E.
Yasuda H, Ohto H, Yamaguchi O, Sakuma S, Suzuki T, Mita M, Tsuneyama H, Uchikawa M.
Transfus Sci. 2000;23(2):107-12.
Jaundice Anemia Fever
Anemia, Hemolytic Aortic Valve Insufficiency Blood Group Antigens Blood Group Incompatibility Blood Grouping and Crossmatching Fatigue Fever Hemophilia B Homo sapiens Hyperbilirubinemia Isoantibodies Kidd Blood-Group System Male Postoperative Complications Rh-Hr Blood-Group System Time Factors Transfusion Reaction
2
(47.4%)
16952601
Nonoperative management of delayed splenic rupture in a patient with hemophilia B.
Terry NE, Boswell WC.
J Pediatr Surg. 2006;41(9):1607-9.
Anemia Splenic rupture
COX8A
Hemophilia B Hemorrhage Homo sapiens Hypotension Male Recombinant Proteins Skating Splenic Rupture Time Factors
3
(41.1%)
31083180
Concurrent lymphoma and hemophilia B in a pediatric patient: A case report.
Lu G, Qiao L, Li D, Liu Z, Zhao F, Yu D.
Medicine (Baltimore). 2019;98(19):e15474.
Jaundice Ascites Melena
Burkitt Lymphoma Child, Preschool Differential Diagnosis Fatal Outcome Hemophilia B Homo sapiens Male
4
(35.6%)
18613368
Superior mesenteric venous thrombosis treated by direct aspiration thrombectomy.
Nakayama S, Murashima N, Isobe Y.
Hepatogastroenterology. 2008;55(82-83):367-70.
Cirrhosis Ascites Mesenteric venous thrombosis
Homo sapiens Male Mesenteric Vascular Occlusion Thrombectomy Venous Thrombosis
5
(33.4%)
24529944
(3988988)
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
Wiethoff S, Xiromerisiou G, Bettencourt C, Kioumi A, Tsiptsios I, Tychalas A, Evaggelia M, George K, Makris V, Hardy J, Houlden H.
J Neurol Sci. 2014;339(1-2):220-2.
Acanthocytosis
c|DEL|229|C p|FS|L|80||
Amino Acid Sequence Amino Acid Transport Systems, Neutral Base Pairing Chorea Acanthocytosis Syndrome Exons Gene Deletion Homo sapiens Male Molecular Sequence Data Muscular Atrophy Peripheral Nervous System Diseases
6
(31.4%)
20093865
Perinatal hemorrhagic shock after fetal scalp blood sampling.
Sabir H, Stannigel H, Schwarz A, Hoehn T.
Obstet Gynecol. 2010;115(2 Pt 2):419-20.
Anemia Shock
Blood Gas Analysis Females Fetal Monitoring Hemophilia B Homo sapiens Infant, Newborn Male Pregnancy Shock, Hemorrhagic
7
(27.3%)
21078618
Outcome of long-term prophylaxis after cerebral hemorrhage in a patient with severe hemophilia B.
Zanon E, Sartori MT, Spiezia L, Brandolin B, Simioni P, Manara R.
Clin Appl Thromb Hemost. 2011;17(5):535-8.
Cerebral hemorrhage Vomiting
F9
Adult Cerebral Hemorrhage Hematoma, Subdural, Intracranial Hemophilia B Homo sapiens Male Recombinant Proteins Time Factors X-Ray Computed Tomography
7
(27.3%)
3211277
[Unusual postoperative hemorrhage in a patient with ruptured aneurysm and hemophilia B].
Komatsu Y, Narushima K, Kobayashi E, Nose T, Maki Y.
No Shinkei Geka. 1988;16(11):1281-5.
Hemiparesis Vomiting Subarachnoid hemorrhage
Adult Hemophilia B Homo sapiens Intracranial Aneurysm Male Postoperative Complications Rupture, Spontaneous Subarachnoid Hemorrhage
9
(26.6%)
26504872
(4612752)
Spontaneous Paraesophageal Hematoma.
Yan J, Walker C, Chalasani P.
ACG Case Rep J. 2015;3(1):29-30.
Hematemesis
9
(26.6%)
12360799
[Chronic myeloid leukemia in hemophilia B].
Larrain C.
Rev Med Chil. 2002;130(8):897-900.
Leukemia Duodenal ulcer
Adult Blood Coagulation Factor Fatal Outcome Hemophilia B Homo sapiens Immunosuppressive Agents Male
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000790 Hematuria Very frequent (99-80%)
HP:0001058 Poor wound healing Very frequent (99-80%)
HP:0002170 Intracranial hemorrhage Very frequent (99-80%)
HP:0003010 Prolonged bleeding time Very frequent (99-80%)
HP:0003645 Prolonged partial thromboplastin time Very frequent (99-80%)
HP:0004406 Spontaneous, recurrent epistaxis Very frequent (99-80%)
HP:0004846 Prolonged bleeding after surgery Very frequent (99-80%)
HP:0005261 Joint hemorrhage Very frequent (99-80%)
HP:0006298 Prolonged bleeding after dental extraction Very frequent (99-80%)
HP:0011858 Reduced factor IX activity Very frequent (99-80%)
HP:0012233 Intramuscular hematoma Very frequent (99-80%)
HP:0012541 Cephalohematoma Very frequent (99-80%)
HP:0040232 Delayed onset bleeding Very frequent (99-80%)
HP:0400008 Menometrorrhagia Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 51

HPO ID Term # of case reports
HP:0012115 Hepatitis 7
HP:0002721 Immunodeficiency 6
HP:0001394 Cirrhosis 4
HP:0002650 Scoliosis 3
HP:0031625 Pseudoaneurysm 3
HP:0000100 Nephrotic syndrome 2
HP:0000421 Epistaxis 2
HP:0001658 Myocardial infarction 2
HP:0002170 Intracranial hemorrhage 2
HP:0011886 Hyphema 2
HP:0012223 Splenic rupture 2
HP:0031273 Shock 2
HP:0000016 Urinary retention 1
HP:0000939 Osteoporosis 1
HP:0001249 Intellectual disability 1
HP:0001541 Ascites 1
HP:0001629 Ventricular septal defect 1
HP:0001681 Angina pectoris 1
HP:0001873 Thrombocytopenia 1
HP:0001888 Lymphopenia 1
HP:0001907 Thromboembolism 1
HP:0001927 Acanthocytosis 1
HP:0002014 Diarrhea 1
HP:0002040 Esophageal varix 1
HP:0002105 Hemoptysis 1
HP:0002107 Pneumothorax 1
HP:0002239 Gastrointestinal hemorrhage 1
HP:0002248 Hematemesis 1
HP:0002249 Melena 1
HP:0002621 Atherosclerosis 1
HP:0002664 Neoplasm 1
HP:0002671 Basal cell carcinoma 1
HP:0002835 Aspiration 1
HP:0002870 Obstructive sleep apnea 1
HP:0003040 Arthropathy 1
HP:0004326 Cachexia 1
HP:0004395 Malnutrition 1
HP:0007340 Lower limb muscle weakness 1
HP:0009797 Cholesteatoma 1
HP:0009830 Peripheral neuropathy 1
HP:0011851 Hemopericardium 1
HP:0012151 Hemothorax 1
HP:0012315 Histiocytoma 1
HP:0012393 Allergy 1
HP:0012636 Retinal vein occlusion 1
HP:0012740 Papilloma 1
HP:0025615 Abscess 1
HP:0032118 Retinitis 1
HP:0040223 Pulmonary hemorrhage 1
HP:0100762 Hemobilia 1
HP:0200123 Chronic hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID