Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Hereditary Diseases of Blood, Heart, Lungs, and Kidneys (links are
Document related concepts
no text concepts found
Transcript
Hereditary Diseases of Blood, Heart, Lungs, and Kidneys (links are to articles on e-medicine.com or Genetics Home Reference) Disease Blood Acute intermittent porphyria ALA dehydratase deficiency porphyria Inheritance Defect Autosomal dominant Autosomal recessive α2-Plasmin inhibitor deficiency Antithrombin deficiency Coproporphyria Hemophilia A Autosomal recessive Autosomal dominant Autosomal dominant X-linked Hemophilia B Hereditary elliptocytosis spherocytic elliptocytosis Southeast Asian ovalocytosis Hereditary pyropoikilocytosis Hereditary spherocytosis X-linked Autosomal dominant Porphobilinogen-deaminase δ-Aminolevulinic acid dehydratase (Porphobilinogen synthase) α2-Plasmin inhibitor Antithrombin III Coproporphyrinogen oxidase Factor VIII (antihemophilic globulin) Factor IX Spectrin (α or β), Glycophorin C, or band 4.1 Factor II deficiency Factor V deficiency Factor VII deficiency Factor X deficiency Autosomal recessive Autosomal recessive Autosomal dominant Autosomal recessive Autosomal recessive Autosomal recessive Factor XI deficiency Autosomal Factor XIII deficiency Glanzmann thrombasthenia Autosomal recessive Autosomal recessive Neuroacanthocytosis abetalipoproteinemia/aprebetalipoproteinemia (chromosome 2) chorea-acanthocytosis syndrome (band 9q21) Protein C deficiency Protein S deficiency Sickle cell anemia Thalassemia (β+) Thalassemia (β-0) Thalassemia (α) Hemoglobin H von Willebrand disease Autosomal recessive X-linked (McLeod phenotype) Heart Hypertrophic cardiomyopathy Long QT syndrome (LQT1) LQT2 LQT3 LQT4 LQT5 LQT6 LQT7 (Anderson syndrome) Autosomal dominant Autosomal dominant Autosomal codominant Autosomal dominant or recessive Autosomal dominant Spectrin α-Spectrin β-spectrin Factor II (prothrombin) Factor V Factor VII Factor X (Stuart-Prower factor) Factor XI (plasma thromboplastin antecedent) Factor XIII tetramer (A2,B2) Glycoprotein IIb/IIIa (GP IIb/IIIa) complex Protein C Protein S β-globin Decreased β Absence of β Deletion of 2α (aa/oo,ao/ao) Deletion of 3α (oo/ao) von Willebrand factor Myosin heavy chain, actin, tropomyosin, and titin KVLQT1, or KCNQ1 (hetero) HERG, KCNH2 SCN5A ANK2, ANKB KCNE1 (hetero) MiRP1, KNCE2 KCNJ2 LQT8 (Timothy syndrome) LQT9 LQT10 LQT11 LQT12 JLN1 JLN2 Marfan syndrome Noonan syndrome Kidneys Alport syndrome Bartter syndrome (Type I) Type II Type III Type IV Type V Gitelman syndrome Familial renal amyloidosis Autosomal dominant Autosomal dominant or sporatic X-linked Autosomal dominant Autosomal recessive Autosomal recessive or sporatic Autosomal dominant Hartnup disease Autosomal recessive Polycystic kidney disease Autosomal dominant Autosomal recessive von Hippel-Lindau disease Autosomal dominant Lungs α1-Antitrypsin deficiency Cystic fibrosis Autosomal recessive Kartagener syndrome Autosomal recessive Metabolism (Lipids, Urea cycle) N-acetylglutamate synthetase deficiency Autosomal recessive Apo C-II deficiency Arginase deficiency Argininosuccinate lyase deficiency Argininosuccinic acid synthase deficiency Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Carbamoyl phosphate synthetase deficiency Autosomal recessive Familial hypercholesterolemia Glucose-6-phosphate dehydrogenase deficiency Glutathione synthetase deficiency Lecithin-cholesterol acyltransferase Autosomal dominant X-linked Autosomal recessive CACNA1C CAV3 SCN4B AKAP9 SNTAI KVLQT1, or KCNQ1 (homo) KCNE1 (homozygotes) Fibrillin-1 (FBN1) PTPN11, SOS1, RAF1, and KRAS Type IV collagen (COL4A3, COL4A4, COL4A5) NKCC2 ROMK CLCNKB BSND CLCNKB and CLCNKA NCCT Lysozyme, apolipoprotein AI, apolipoprotein AII, and fibrinogen A α-chain Sodium-dependent and chloride-independent neutral amino acid transporter (SLC6A19) Polycystin 1 (PKD1) and polycystin 2 (PKD2) Fibrocystin/polyductin (PKDHD1) von Hippel-Lindau proteins (pVHL) α1-Antitrypsin Cystic fibrosis transmembrane conductance regulator (CFTR) Dynein (DNAH5 and DNA11) N-Acetylglutamate synthetase Apo C-II Arginase Argininosuccinate lyase Argininosuccinic acid synthase Carbamoyl phosphate synthetase LDL receptor dysfunction Glucose-6-phosphate dehydrogenase Glutathione synthetase Lecithin-cholesterol deficiency Lipoprotein lipase deficiency Medium-chain Acyl-CoA dehydrogenase deficiency Ornithine transcarbamylase deficiency Pyruvate kinase deficiency Sitosterolemia Autosomal recessive Autosomal recessive X-linked Autosomal recessive Autosomal recessive acyltransferase Lipoprotein lipase Medium-chain Acyl-CoA dehydrogenase Ornithine transcarbamylase Pyruvate kinase ABC transporters (ABCG8 and ABCG5)
Related documents