Hereditary Diseases of Blood, Heart, Lungs, and Kidneys

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Disease Inheritance Defect Blood Acute intermittent porphyria Autosomal dominant Porphobilinogen-deaminase ALA dehydratase deficiency porphyria Autosomal recessive δ-Aminolevulinic acid

dehydratase (Porphobilinogen synthase)

α2-Plasmin inhibitor deficiency Autosomal recessive α2-Plasmin inhibitor Antithrombin deficiency Autosomal dominant Antithrombin III Coproporphyria Autosomal dominant Coproporphyrinogen oxidase Hemophilia A X-linked Factor VIII (antihemophilic

globulin) Hemophilia B X-linked Factor IX Hereditary elliptocytosis spherocytic elliptocytosis Southeast Asian ovalocytosis

Autosomal dominant Spectrin (α or β), Glycophorin C, or band 4.1

Hereditary pyropoikilocytosis Autosomal recessive Spectrin Hereditary spherocytosis Autosomal recessive

Autosomal dominant α-Spectrin β-spectrin

Factor II deficiency Autosomal recessive Factor II (prothrombin) Factor V deficiency Factor V Factor VII deficiency Autosomal recessive Factor VII Factor X deficiency Autosomal recessive Factor X (Stuart-Prower

factor) Factor XI deficiency Autosomal Factor XI (plasma

thromboplastin antecedent) Factor XIII deficiency Autosomal recessive Factor XIII tetramer (A2,B2) Glanzmann thrombasthenia Autosomal recessive Glycoprotein IIb/IIIa (GP

IIb/IIIa) complex Neuroacanthocytosis abetalipoproteinemia/aprebetalipoproteinemia (chromosome 2) chorea-acanthocytosis syndrome (band 9q21)

Autosomal recessive X-linked (McLeod phenotype)

Protein C deficiency Autosomal dominant Protein C Protein S deficiency Autosomal dominant Protein S Sickle cell anemia Autosomal codominant β-globin Thalassemia (β+) Thalassemia (β-0) Thalassemia (α) Hemoglobin H

Decreased β Absence of β Deletion of 2α (aa/oo,ao/ao) Deletion of 3α (oo/ao)

von Willebrand disease Autosomal dominant or recessive

von Willebrand factor

Heart Hypertrophic cardiomyopathy Autosomal dominant Myosin heavy chain, actin,

tropomyosin, and titin Long QT syndrome (LQT1) LQT2 LQT3 LQT4 LQT5 LQT6 LQT7 (Anderson syndrome)

KVLQT1, or KCNQ1 (hetero) HERG, KCNH2 SCN5A ANK2, ANKB KCNE1 (hetero) MiRP1, KNCE2 KCNJ2

LQT8 (Timothy syndrome) LQT9 LQT10 LQT11 LQT12 JLN1 JLN2

CACNA1C CAV3 SCN4B AKAP9 SNTAI KVLQT1, or KCNQ1 (homo) KCNE1 (homozygotes)

Marfan syndrome Autosomal dominant Fibrillin-1 (FBN1) Noonan syndrome Autosomal dominant or

sporatic PTPN11, SOS1, RAF1, and KRAS

Kidneys Alport syndrome X-linked

Autosomal dominant Autosomal recessive

Type IV collagen (COL4A3, COL4A4, COL4A5)

Bartter syndrome (Type I) Type II Type III Type IV Type V Gitelman syndrome

Autosomal recessive or sporatic

NKCC2 ROMK CLCNKB BSND CLCNKB and CLCNKA NCCT

Familial renal amyloidosis Autosomal dominant Lysozyme, apolipoprotein AI, apolipoprotein AII, and fibrinogen A α-chain

Hartnup disease Autosomal recessive Sodium-dependent and chloride-independent neutral amino acid transporter (SLC6A19)

Polycystic kidney disease Autosomal dominant Autosomal recessive

Polycystin 1 (PKD1) and polycystin 2 (PKD2) Fibrocystin/polyductin (PKDHD1)

von Hippel-Lindau disease Autosomal dominant von Hippel-Lindau proteins (pVHL)

Lungs α1-Antitrypsin deficiency α1-Antitrypsin Cystic fibrosis Autosomal recessive Cystic fibrosis

transmembrane conductance regulator (CFTR)

Kartagener syndrome Autosomal recessive Dynein (DNAH5 and DNA11)

Metabolism (Lipids, Urea cycle) N-acetylglutamate synthetase deficiency Autosomal recessive N-Acetylglutamate

synthetase Apo C-II deficiency Autosomal recessive Apo C-II Arginase deficiency Autosomal recessive Arginase Argininosuccinate lyase deficiency Autosomal recessive Argininosuccinate lyase Argininosuccinic acid synthase deficiency Autosomal recessive Argininosuccinic acid

synthase Carbamoyl phosphate synthetase deficiency Autosomal recessive Carbamoyl phosphate

synthetase Familial hypercholesterolemia Autosomal dominant LDL receptor dysfunction Glucose-6-phosphate dehydrogenase deficiency

X-linked Glucose-6-phosphate dehydrogenase

Glutathione synthetase deficiency Glutathione synthetase Lecithin-cholesterol acyltransferase Autosomal recessive Lecithin-cholesterol

deficiency acyltransferase Lipoprotein lipase deficiency Autosomal recessive Lipoprotein lipase Medium-chain Acyl-CoA dehydrogenase deficiency

Autosomal recessive Medium-chain Acyl-CoA dehydrogenase

Ornithine transcarbamylase deficiency X-linked Ornithine transcarbamylase Pyruvate kinase deficiency Autosomal recessive Pyruvate kinase Sitosterolemia Autosomal recessive ABC transporters (ABCG8

and ABCG5)