Pathology Flashcards
Disease activity that increases in severity with each generation is called _______
anticipation
A single gene mutation that produces large effect is a ______ disorder
Mendelian
The majority of sex chromosome disorders are (X/Y)-linked
X-linked
The three defining features of neoplasia are:
- Unregulated
- Irreversable
- Monoclonal
A glycogen storage disease resulting from glucose-6-phosphates deficiency is called __________ disease
von Gierke disease
GM2 gangliosidosis or hexosaminidase A deficiency leading to ganglioside accumulation, cherry red macula and nerve damage is _________ disease
Tay-Sachs disease
Deficiency in clotting factor VIII, X-linked recessive disease called ___________
Hemophilia A
Qualitative defects in fibrillin gene FBN1, leads to systemic connective tissue problems, especially heart valves is called ______ _______
Marfan syndrome
Unusually tall, with long limbs and long, thin fingers and toes, bin laden, phleps and lincoln possibly had this.
Marfan syndrome
Deficiency of the sphingomyelinase enzyme leading to lysosomal accumulation of sphingomyelin will cause _________ disease (Marfan syndrome/Hurler Syndrome/Niemann-Pick disease)
Niemann-Pick disease
Deficiency of the sphingomyelinase enzyme leading to lysosomal accumulation of sphingomyelin will cause _________ disease
Niemann-Pick disease
Dermatan and heparan sulfate (mucopolysaccharides or glycosaminoglycans) accumulate in mononuclear phagocytic cells with a α-1-Iduronidase deficiency
Hurler Syndrome
hepatomegaly, ecchymoses of skin, low blood glucose, glycogen not metabolized, glucose-6-phosphatase deficient
von Gierke disease
Glycogen accumulates in skeletal muscle due to a deficiency in muscle phosphorylase enzyme. muscle cramps ensue. Myoglobinuria in 1/2 the cases.
McArdle disease
Name 2 glycogen storage diseases
- McArdle disease
2. Pompe disease
Dermatan and heparan sulfate (mucopolysaccharides or glycosaminoglycans) accumulate in mononuclear phagocytic cells with a α-1-Iduronidase deficiency
Hurler Syndrome
Name 2 glycogen storage diseases
- McArdle disease (muscle phosphorylase)
2. Pompe disease (α-1,4-Glucosidase)
Dermatan and heparan sulfate (mucopolysaccharides or glycosaminoglycans) accumulate in mononuclear phagocytic cells with a α-1-Iduronidase deficiency (Marfan syndrome/Hurler Syndrome/von Gierke disease)
Hurler Syndrome
Hepatomegaly, ecchymoses of skin, low blood glucose, glycogen not metabolized, glucose-6-phosphatase deficient (Marfan syndrome/Hurler Syndrome/von Gierke disease)
von Gierke disease
Glycogen accumulates in skeletal muscle due to a deficiency in muscle phosphorylase enzyme. muscle cramps ensue. Myoglobinuria in 1/2 the cases. (Pompe disease/McArdle disease/von Gierke disease)
McArdle disease
Name 2 glycogen storage diseases
- McArdle disease (Muscle phosphorylase)
2. Pompe disease (α-1,4-Glucosidase)
Glycogen storage disease, (α-1,4-Glucosidase) glycogen stored in myocardium results in cardiomegaly
Pompe disease
Glycogen storage disease, (α-1,4-Glucosidase) glycogen stored in myocardium results in cardiomegaly _______ disease
Pompe disease
