Disorders with Mendelian Inheritence

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Author:
elzotter
ID:
77345
Filename:
Disorders with Mendelian Inheritence
Updated:
2011-04-04 17:00:03
Tags:
cytogenetics molecular disorders
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Description:
cytogenetics, molecular, disorders
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  1. Autosomal Dominant
    • Achondroplasia
    • Autosomal Dominant Polycystic Kidney Disease
    • Familial Hypercholesterolemia
    • Hereditary Spherocytosis
    • Marfan Syndrome
  2. Achondroplasia
    Autosomal Dominant

    • Defective gene/protien:
    • FGFR3 (Fibroblast growth factor
    • receptor 3)
  3. Autosomal Dominant Polycystic
    Kidney Disease
    Autosomal Dominant

    • Defective gene/protien:
    • PKD1 (polycystin-1) (85%)
    • PKD2 (polycystin-2) (15%)
  4. Familial Hypercholesterolemia
    Autosomal Dominant

    • Defective gene/protien:
    • LDLR (low density lipoprotein receptor)
  5. Hereditary Spherocytosis
    Autosomal Dominant

    • Defective gene/protien:
    • Multiple RBC cytoskeletal components including ankyrin and spectrin
  6. Marfan Syndrome
    Autosomal Dominant

    • Defective gene/protien:
    • FBN1 (fibrillin-1)
  7. 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
  8. Carbamylphosphatase
    Synthetase I Deficiency
    Autosomal Recessive

    • Type of disorder:
    • Urea cycle

    • Defective gene product:
    • Carbamylphosphatase synthetase
  9. Gaucher Disease
    Autosomal Recessive

    • Type of disorder:
    • Lysosomal storage

    • Defective gene product:
    • Glucocerebrosidase
  10. Medium-Chain Acyl CoA Deficiency (MCAD)
    Autosomal Recessive

    • Type of disorder:
    • Fatty acid oxidation

    • Defective gene product:
    • Medium-chain acyl CoA dehydrogenase
  11. Maple Syrup Urine Disease
    Autosomal Recessive

    • Type of disorder:
    • Amino acid metabolism

    • Defective gene product:
    • Branched chain α-ketoacid dehydrogenase
  12. Phenylketonuria
    Autosomal Recessive

    • Type of disorder:
    • Amino acid metabolism

    • Defective gene product:
    • Phenylalanine hydroxylase
  13. Tay-Sachs Disease
    Autosomal Recessive

    • Type of disorder:
    • Lysosomal storage

    • Defective gene product:
    • Hexosaminidase A
  14. X-linked Recessive
    • Fabry Disease
    • Glucose-6-Phosphate Dehydrogenase Deficiency
    • Hemophilia A
    • Hemophilia B
    • Lesch-Nyhan Syndrome
    • Menkes Disease
  15. Fabry Disease
    X-linked Recessive

    • Defective gene product:
    • α-galactosidase A
  16. Glucose-6-Phosphate Dehydrogenase Deficiency
    X-linked Recessive

    • Defective gene product:
    • Glucose-6-Phosphate Dehydrogenase
  17. Hemophilia A
    X-linked Recessive

    • Defective gene product:
    • Factor VIII
  18. Hemophilia B
    X-linked Recessive

    • Defective gene product:
    • Factor IX
  19. Lesch-Nyhan Syndrome
    X-linked Recessive

    • Defective gene product:
    • Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)
  20. Menkes Disease
    X-linked Recessive

    • Defective gene product:
    • Cu2+-transporting ATPase, α-polypeptide
  21. 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)
  22. Kearns-Sayre Syndrome
    Mitochondrial

    Progressive external ophthalmoplegia before age 20, pigmentary retinopathy
  23. Leber Hereditary Optic Neuropathy
    Mitochondrial

    Subacute, painless bilateral vision failure
  24. 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
  25. Myoclonic Epilepsy with Ragged-red Fibers (MERRF)
    Mitochondrial

    Myoclonus, seizures, cerebellar ataxia, myopathy
  26. Progressive External Opthalmoplegia (PEO)
    Mitochondrial

    External ophthalmoplegia, bilateral ptosis, mild proximal myopathy
  27. Multifactorial Inheritance
    • • Cleft lip and palate
    • • Coronary artery disease
    • • Congenital hip dislocation
    • • Diabetes mellitus
    • • Hypertension
    • • Neural tube defects
    • • Obesity
    • • Schizophrenia

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