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37 Cards in this Set

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  • Back
AD -- fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation
Polycystic kidney disease
AD -- mutations in the gene PKD1 on chromosome 16; two hit hypothesis
Gilbert's disease
AD -- ource of this hyperbilirubinemia is reduced activity of the enzyme glucuronyltransferase which conjugates bilirubin
AD -- polyglutamine diseases caused by a trinucleotide repeat expansion; mutant protein is neuronacidal
Milroy's lymphedema
AD-- Mutations in any of these genes prevent the proper production or assembly of the type IV collagen network, which is an important structural component of basement membranes in the kidney, inner ear, and eye.
Familial adenomatous polyposis
AD -- mutations in the APC gene (normally a tumor suppressor gene), which is located on chromosome 5 in band q21 or band q22
AD -- variety of molecular defects in the genes that code for spectrin, ankyrin (most common), band 3 protein,protein 4.1, and other erythrocyte membrane proteins
Osler-Weber-Rendu syndrome
(Hereditary hemorrhagic telangiectasia)
AD -- signalling of transforming growth factor-β1 is most likely to be involved. Possibly, connective tissue is required to support and guide proliferating blood vessels during angiogenesis, and defects in TGF-β signalling adversely affect connective tissue and matrix production.
Tuberous sclerosis
AD -- TSC1 and TSC2 are both tumor suppressor genes that function according to Knudson's "two hit" hypothesis.
AD -- mutations of the Von Hippel-Lindau tumor suppressor (VHL) gene on the short arm of third chromosome; As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form
AD -- Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15,[9] which encodes a glycoprotein called fibrillin-1, a component of the extracellular matrix. The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastic fibers; Transforming growth factor beta (TGFβ) plays an important role
Familial hypercholesterolemia
AD -- In LDL receptor mutations, this is the mechanism behind the receptor malfunctioning; in ApoB mutations, this is due to reduced binding of LDL particles to the receptor
Neurofibromatosis (Von Recklinghausen=1; bilateral acoustic neuromas=2)
AD -- Neurofibromatosis type 1 is due to mutation on chromosome 17q11.2 , the gene product being Neurofibromin ( a GTPase activating enzyme)

Neurofibromatosis type 2 is due to mutation on chromosome 22q , the gene product is Merlin, a cytoskeletal protein
Trisomy 21
Trisomy 18
Trisomy 13
Bruton's agammaglobulinemia
Sex-lined -- The gene Bruton's tyrosine kinase (Btk) plays an essential role in the maturation of B cells in the bone marrow, and when mutated, immature pre-B lymphocytes are unable to develop into mature B cells that leave the bone marrow into the blood stream
Wiskott-Aldrich syndrome
Sex-lined recessive -- The WASP gene codes for the protein by the same name, which is 502 amino acids long and is mainly expressed in hematopoietic cells; characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia)
Fragile X
Sex-lined -- The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome; anticipation and trinucleotide repeats are characteristic
Ocular albinism
Sex-lined -- Also known as Nettleship-Falls syndrome, is the most common variety of ocular albinism.. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms
Lesch-Nyhan syndrome
Sex-lined -- mutation of the enzyme hypoxanthine-guanine phosphoribosyltransferase; involved in the biochemical pathways the body uses to produce purines, one of the components of DNA and RNA. Defects of this enzyme lead to increased production of uric acid
Sex-lined -- DMD gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane; The absence of dystrophin permits excess calcium to penetrate the sarcolemma (cell membrane). In a complex cascading process that involves several pathways and is not clearly understood, increased oxidative stress within the cell damages the sarcolemma, eventually results in the death of the cell. Muscle fibers undergo necrosis and are ultimately replaced with adipose and connective tissue
Sex-lined -- This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin
Hemophillia A/B
Sex-lined -- In its most common form, Hemophilia A, clotting factor VIII is absent. In Haemophilia B, factor IX is deficient.
Sex-lined -- A deficiency of the enzyme alpha galactosidase A causes a glycolipid known as globotriaosylceramide to accumulate within the blood vessels, other tissues, and organs (eyes and kidneys).
Sex-lined -- GAG build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S). Physical manifestations for some people with Hunter syndrome include distinct facial features, a large head, and an enlarged abdomen.
Cystic Fibrosis
AR -- When the CFTR protein does not work, chloride is trapped inside the cells in the airway and outside in the skin. Because chloride is negatively charged, positively charged ions also cannot cross into the cell because they are affected by the electrical attraction of the chloride ions. Sodium is the most common ion in the extracellular space and the combination of sodium and chloride creates the salt, which is lost in high amounts in the sweat of individuals with CF. This lost salt forms the basis for the sweat test.
AR -- The most common type of albinism, is caused by mutation of the P gene
AR -- Disorders of the enzyme include alpha 1-antitrypsin deficiency, a hereditary disorder in which lack of alpha 1-antitrypsin leads to a chronic uninhibited tissue breakdown. This causes the subsequent degradation especially of lung tissue and to the manifestation of pulmonary emphysema. Because A1AT is created in the liver, certain mutations in the DNA code for the enzyme can cause misfolding and impaired secretion of the enzyme, which can lead to liver cirrhosis.
AR -- The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this reaction does not take place, phenylalanine accumulates and tyrosine is deficient. Excessive phenylalanine can be metabolized into phenylketones through the minor route, a transaminase pathway with glutamate.
AR -- Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a haemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin.
sickle cell anemia
AR -- Sickle-cell anaemia is caused by a point mutation in the β-globin chain of haemoglobin, causing the amino acid glutamic acid to be replaced with the less polar amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome 11. the absence of a polar amino acid at position six of the β-globin chain promotes the polymerisation of haemoglobin, which distorts red blood cells into a sickle shape and decreases their elasticity
Glycogen storage disorders

GSD type I; glucose 6-phosphatase; von Gierke's disease

GSD type II; acid maltase; Pompe's disease

GSD type III; glycogen debrancher;Cori's disease or Forbe's disease

GSD type IV; glycogen branching enzyme; Andersen disease

GSD type V; muscle glycogen phosphorylase; McArdle disease

GSD type VI; liver glycogen phosphorylase; Hers' disease

GSD type VII; muscle phosphofructokinase; Tarui's disease

GSD type IX; phosphorylase kinase -

GSD type XI; glucose transporter; Fanconi-Bickel syndrome

GSD type 0; glycogen synthase
Mucopolysaccharide disorders
AR (except Hunter's)
I = enzyme alpha-L-iduronidase
II = iduronate sulfatase
III = enzymes needed to completely break down the heparan sulfate sugar chain
IV = enzymes N-acetylgalactosamine 6-sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain
VI = N-acetylgalactosamine 4-sulfatase
VII = beta-glucuronidase
IX = hyaluronidase deficiency
AR (except Fabry's)
* Gangliosidosis
o GM1 gangliosidoses
o GM2 gangliosidoses
+ Tay-Sachs disease
+ Sandhoff disease
* Gaucher's disease
* Krabbe disease
* Metachromatic leukodystrophy
* Niemann-Pick disease
AR -- HFE which codes for a protein that participates in the regulation of iron absorption. The HFE gene has two common alleles, C282Y and H63D; gene located on short arm of chromosome 6