Stoornissen betreffende het bloed en bloedvormend weefsel

 

Disorders of Fibrinogen and Factor XIII:

 

1. Congenital Afibrinogenemia
   
   OMIM: 202400
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Inherited Abnormalities of Fibrinogen
   
   
    
2. Hypofibrinogenemia
   
   e-Medicine: Inherited Abnormalities of Fibrinogen
   
   
    
3. Dysfibrinogenemia
   
   e-Medicine: Dysfibrinogemia
   
   e-Medicine: Inherited Abnormalities of Fibrinogen
   
   
    
4. Hyperfibrinogenemia
   
   e-Medicine: Inherited Abnormalities of Fibrinogen
   
   
    
5. Factor XIII deficiency; A1 subunit
   
   OMIM: 134570
   
   OMIM: Clinical Synopsis
   
   
    
6. Factor XIII deficiency; B1 subunit
   
   OMIM: 134580
   
   OMIM: Clinical Synopsis

 

 

Hemophilia A: Deficiency of Coagulation Factor VIII:

 

1. Hemophilia A
   
   OMIM: 306700
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Hemophilia A
   
   e-Medicine: Hemophilia Type A

 

 

Von Willebrand Disease:

 

1. von Willebrand Disease ( X-Linked)
   
   OMIM: 314560
   
   OMIM: Clinical Synopsis
   
   e-Medicine: von Willebrand Disease
   
   Who named it?: Erik Adolf von Willebrand
   
   
    
2. von Willebrand Disease; recessive form
   
   OMIM: 277480
   
   OMIM: Clinical Synopsis
   
   e-Medicine: von Willebrand Disease
   
   Who named it?: Erik Adolf von Willebrand
   
   
    
3. von Willebrand Disease
   
   Synoniemen: von Willebrand Factor Deficiency
   
   OMIM: 193400
   
   OMIM: Clinical Synopsis
   
   e-Medicine: von Willebrand Disease
   
   Who named it?: Erik Adolf von Willebrand

 

 

Factor XI and the Contact System:

 

1. Factor XI deficiency;  PTA deficiency
   
   Synoniemen: Plasma Thromboplastin Antecedent deficiency;  Rosenthal Syndrome
   
   OMIM: 264900
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Factor XI deficiency
   
   
    
2. Prekallikrein Deficiency
   
   Synoniemen: Fletcher factor deficiency
   
   OMIM: 229000
   
   OMIM: Clinical Synopsis
   
   
    
3. High Molecular Weight Kinogen Deficiency
   
   Synoniemen: Flaujeac factor deficiency;  HMWK deficiency
   
   OMIM: 228960
   
   OMIM: Clinical Synopsis
   
   
    
4. Factor XII Deficiency
   
   Synoniemen: Hageman factor deficiency
   
   OMIM: 234000
   
   OMIM: Clinical Synopsis

 

 

Antithrombin Deficiency:

 

1. Antithrombin Deficiency
   
   OMIM: 107300
   
   OMIM: Clinical Synopsis

 

 

Disorders of the Fibrinolytic System:

 

1. Plasminogen deficiency
   
   OMIM: 173350
   
   OMIM: Clinical Synopsis
   
   
    
2. Tissue plasminogen activator ( PLAT )
   
   OMIM: 173370
   
   OMIM: Clinical Synopsis
   
   
    
3. Ligneous conjunctivitis
   
   OMIM: 217090
   
   OMIM: Clinical Synopsis
   
   
    
4. Plasminogen Activator inhibitor 1 deficiency; PAI 1
   
   OMIM: 173360
   
   OMIM: Clinical Synopsis
    

 

 

Cytochrome b₅ Reductase Deficiency and
Enzymopenic Hereditary Methemoglobinemia:

 

1. Enzymopenic hereditary methemoglobinemia
   
   Synoniemen; NADH-cytochrome b5 reductase  deficiency
   
   OMIM: 250800
   
   OMIM: Clinical Synopsis
    

 

 

 The Hemoglobinopathies:

 

1. Thalassemias
   
   OMIM: 604131
   
   
    
2. Sickle cell anemia
   
   OMIM: 603903
   
   OMIM: Clinical Synopsis
   
   
    
3. Hemoglobin - Alpha locus 1; HBA1
   
   OMIM: 141800
   
   OMIM: Clinical Synopsis
   
   
    
4. Hemoglobin - Beta locus 1; HBB
   
   OMIM: 141900
   
   OMIM: Clinical Synopsis

 

 

Pyruvate Kinase Deficiency and Other Enzymopathies of the Erythrocyte:

 

1. Pyruvate Kinase Deficiency
   
   OMIM: 266200
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Pyruvate Kinase deficiency
   
   ExPASy: EC 2.7.1.40
   
   
    
2. Hexokinase Deficiency
   
   OMIM: Hemolytic anemia due to hexokinase deficiency
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 2.7.1.1
   
   
    
3. Glucosephosphate Isomerase Deficiency
   
   OMIM: 172400
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 5.3.1.9
   
   
    
4. Phosphofructokinase Deficiency
   
   OMIM: 171850
   
   OMIM: Clinical Synopsis
   
   MDA: Phosphofructokinase deficiency
   
   e-Medicine: Metabolic Myopathies
   
   
    
5. Aldolase Deficiency
   
   OMIM: 103850
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 4.1.2.13
   
   
    
6. Triosephosphate Isomerase Deficiency
   
   OMIM: 190450
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 5.3.1.1
   
   
    
7. Phosphoglycerate Kinase deficiency
   
   OMIM: 311800
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 2.7.2.3
   
   MDA: Phosphoglycerate Kinase deficiency
   
   
    
8. Diphosphoglycerate mutase deficiency
   
   OMIM: 222800
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 5.4.2.4
   
   
    
9. Lactate dehydrogenase deficiency
   
   OMIM: 150100
   
   ExPASy: EC 1.1.1.27
   
   MDA: Lactate Dehydrogenase deficiency
   
   e-Medicine: Metabolic Myopathies
   
   
    
10. Gamma-glutamylcysteine synthetase deficiency
    
    OMIM: 230450
    
    OMIM: Clinical Synopsis
    
    ExPASy: EC 6.3.2.2
    
    
     
11. Glutathione synthetase deficiency
    
    OMIM: 231900
    
    OMIM: Clinical Synopsis
    
    ExPASy: EC 6.3.2.3
    
    e-Medicine: Glutathione synthetase deficiency
    
    
     
12. Glutathione reductase deficiency
    
    OMIM: 138300
    
    OMIM: Clinical Synopsis
    
    ExPASy: EC 1.8.1.7
    
    
     
13. Overproduction of biochemically normal adenosine deaminase
    
    OMIM: 102730
    
    OMIM: Clinical Synopsis
    
    
     
14. uridine 5-prime monophosphate hydrolase deficiency
    
    OMIM: 266120
    
    OMIM: Clinical Synopsis
    
    
     
15. Adenylate kinase deficiency
    
    OMIM: 103000
    
    OMIM: Clinical Synopsis
    
    ExPASy: EC 2.7.4.3

 

 

Hereditary Spherocytosis and Hereditary Elliptocytosis;

 

1. Hereditary Spherocytosis ( HS )
   
   OMIM: 182900
   
   OMIM: Clinical Synopsis
   
   
    
2. Hereditary Elliptocytosis ( HE )
   
   OMIM: 130500
   
   OMIM: Clinical Synopsis

 

 

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