Hereditary Diseases of Blood, Heart, Lungs, and Kidneys

(links are to articles on e-medicine.com)

Disease / Inheritance / Defect
Blood
Acute intermittent porphyria / Autosomal dominant / Porphobilinogen-deaminase
ALA dehydratase deficiency porphyria / Autosomal recessive / d-Aminolevulinic acid dehydratase (Porphobilinogen synthase)
a2-Plasmin inhibitor deficiency / Autosomal recessive / a2-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 (a or b), Glycophorin C, or band 4.1
Hereditary pyropoikilocytosis / Autosomal recessive / Spectrin
Hereditary spherocytosis / Autosomal recessive
Autosomal dominant / a-Spectrin
b-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
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 / b-globin
Thalassemia (b+)
Thalassemia (b-0)
Thalassemia (a)
Hemoglobin H / Decreased b
Absence of b
Deletion of 2a (aa/oo,ao/ao)
Deletion of 3a (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)
LQT8 (Timothy syndrome)
LQT9
LQT10
LQT11
LQT12
JLN1
JLN2 / KVLQT1, or KCNQ1 (hetero)
HERG, KCNH2
SCN5A
ANK2, ANKB
KCNE1 (hetero)
MiRP1, KNCE2
KCNJ2
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 a-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
a1-Antitrypsin deficiency / a1-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 deficiency / Autosomal recessive / Lecithin-cholesterol 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)