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Autosomal Dominant
- Achondroplasia
- Autosomal Dominant Polycystic Kidney Disease
- Familial Hypercholesterolemia
- Hereditary Spherocytosis
- Marfan Syndrome
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Achondroplasia
Autosomal Dominant
- Defective gene/protien:
- FGFR3 (Fibroblast growth factor
- receptor 3)
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Autosomal Dominant Polycystic
Kidney Disease
Autosomal Dominant
- Defective gene/protien:
- PKD1 (polycystin-1) (85%)
- PKD2 (polycystin-2) (15%)
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Familial Hypercholesterolemia
Autosomal Dominant
- Defective gene/protien:
- LDLR (low density lipoprotein receptor)
-
Hereditary Spherocytosis
Autosomal Dominant
- Defective gene/protien:
- Multiple RBC cytoskeletal components including ankyrin and spectrin
-
Marfan Syndrome
Autosomal Dominant
- Defective gene/protien:
- FBN1 (fibrillin-1)
-
Autosomal Recessive
Generally inborn errors of metabolism
- Carbamylphosphatase Synthetase I Deficiency
- Gaucher Disease
- Medium-Chain Acyl CoA Deficiency (MCAD)
- Maple Syrup Urine Disease
- Phenylketonuria
- Tay-Sachs Disease
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Carbamylphosphatase
Synthetase I Deficiency
Autosomal Recessive
- Type of disorder:
- Urea cycle
- Defective gene product:
- Carbamylphosphatase synthetase
-
Gaucher Disease
Autosomal Recessive
- Type of disorder:
- Lysosomal storage
- Defective gene product:
- Glucocerebrosidase
-
Medium-Chain Acyl CoA Deficiency (MCAD)
Autosomal Recessive
- Type of disorder:
- Fatty acid oxidation
- Defective gene product:
- Medium-chain acyl CoA dehydrogenase
-
Maple Syrup Urine Disease
Autosomal Recessive
- Type of disorder:
- Amino acid metabolism
- Defective gene product:
- Branched chain α-ketoacid dehydrogenase
-
Phenylketonuria
Autosomal Recessive
- Type of disorder:
- Amino acid metabolism
- Defective gene product:
- Phenylalanine hydroxylase
-
Tay-Sachs Disease
Autosomal Recessive
- Type of disorder:
- Lysosomal storage
- Defective gene product:
- Hexosaminidase A
-
X-linked Recessive
- Fabry Disease
- Glucose-6-Phosphate Dehydrogenase Deficiency
- Hemophilia A
- Hemophilia B
- Lesch-Nyhan Syndrome
- Menkes Disease
-
Fabry Disease
X-linked Recessive
- Defective gene product:
- α-galactosidase A
-
Glucose-6-Phosphate Dehydrogenase Deficiency
X-linked Recessive
- Defective gene product:
- Glucose-6-Phosphate Dehydrogenase
-
Hemophilia A
X-linked Recessive
- Defective gene product:
- Factor VIII
-
Hemophilia B
X-linked Recessive
- Defective gene product:
- Factor IX
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Lesch-Nyhan Syndrome
X-linked Recessive
- Defective gene product:
- Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)
-
Menkes Disease
X-linked Recessive
- Defective gene product:
- Cu2+-transporting ATPase, α-polypeptide
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Mitochondrial Inheritance
- Kearns-Sayre Syndrome
- Leber Hereditary Optic Neuropathy
- Mitochondrial Encepholopathy,
- Lactic Acidosis Stroke-like Episodes (MELAS)
- Myoclonic Epilepsy with Ragged-red Fibers (MERRF)
- Progressive External Opthalmoplegia (PEO)
-
Kearns-Sayre Syndrome
Mitochondrial
Progressive external ophthalmoplegia before age 20, pigmentary retinopathy
-
Leber Hereditary Optic Neuropathy
Mitochondrial
Subacute, painless bilateral vision failure
-
Mitochondrial Encepholopathy,
Lactic Acidosis Stroke-like Episodes (MELAS)
Mitochondrial
Stroke-like episodes before age 40, seizures and/or dementia, ragged-red fibers and/or lactic acidosis
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Myoclonic Epilepsy with Ragged-red Fibers (MERRF)
Mitochondrial
Myoclonus, seizures, cerebellar ataxia, myopathy
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Progressive External Opthalmoplegia (PEO)
Mitochondrial
External ophthalmoplegia, bilateral ptosis, mild proximal myopathy
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Multifactorial Inheritance
- • Cleft lip and palate
- • Coronary artery disease
- • Congenital hip dislocation
- • Diabetes mellitus
- • Hypertension
- • Neural tube defects
- • Obesity
- • Schizophrenia
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