Robbins Chapter 5 Tables Flashcards by Stephanie Wehbe

Autosomal Dominant Disorders affecting the Nervous system (4)

Huntington disease
Neurofibromatosis
Myotonic dystrophy
Tuberous Sclerosis

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Autosomal Dominant Disorders affecting the Urinary system (1)

Polycystic kidney disease

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Autosomal Dominant Disorders affecting the GI system (1)

Familial polyposis coli

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Autosomal Dominant Disorders affecting the Hematopoietic system (2)

Hereditary spherocytosis

Von Willebrand Disease

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Autosomal Dominant Disorders affecting the Skeletal system (4)

Marfan Syndrome
Ehlers-Danlos Syndrome
Osteogenesis Imperfecta
Achondroplasia

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Autosomal Dominant Disorders affecting the Metabolic system (2)

Familial Hypercholesterolemia

Acute Intermittent Porphyria

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Autosomal Recessive Disorders affecting the Metabolic system (9)

Cystic fibrosis
Phenylketonuria
Galactosemia
Homocystinuria
Lysosomal storage disease
a1-antitrypsin deficiency
Wilson disease
Hemochromatosis
Glycogen strorage diseases

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Autosomal Recessive Disorders affecting the Hematopoietic system (2)

Sickle Cell anemia

Thalassemias

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Autosomal Recessive Disorders affecting the Endocrine system (1)

Congenital adrenal hyperplasia

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Autosomal Recessive Disorders affecting the Skeletal system (2)

Ehlers-Danlos syndrome

Alkaptonuria

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Autosomal Recessive Disorders affecting the Nervous system (3)

Neurogenic muscular atrophies
Friedreich ataxia
Spinal muscular atrophy

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X-linked Recessive Disorders affecting the Musculoskeletal system (1)

Duchenne muscular dystrophy

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X-linked Recessive Disorders affecting the Blood system (3)

Hemophilia A and B
Chronic Granulomatous disease
Glucose-6-phosphate dehydrogenase deficiency

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X-linked Recessive Disorders affecting the Immune system (2)

Agammaglobulinemia

Wiskott-Aldrich syndrome

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X-linked Recessive Disorders affecting the Metabolic system (2)

Diabetes Insipidus

Lesch-Nyhan syndrome

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X-linked Recessive Disorders affecting the Nervous system (1)

Fragile X Syndrome

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Biochemical and Molecular basis for Phenylketonuria

enzyme problem: phenylalanine hydroxylase

splice-site mutation causing reduced amount of enzyme

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Biochemical and Molecular basis for Tay-Sachs disease

enzyme problem: hexosminidase

splice-site mutation or frameshift mutation with stop codon causing reduced amount of enzyme

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Biochemical and Molecular basis for Severe Combined Immunodeficiency

enzyme problem: adenosine deaminase

point mutations causing abnormal protein with reduced activity

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Biochemical and Molecular basis for Emphysema and Liver disease

enzyme inhibitor problem: a1-antitrypsin

missense mutation causing impaired secretion from liver to serum

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Biochemical and Molecular basis for Familial Hypercholesterolemia

receptor problem- LDL receptor

deletions, point mutations causing reduction of synthesis, transport to cell surface, or binding of LDL

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Biochemical and Molecular basis for Vitamin D-resistant rickets

receptor problem- Vitamin D receptor

point mutations causing failure of normal signaling

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Biochemical and Molecular basis for Alpha Thalassemia

transport of oxygen problem: hemoglobin

deletions causing reduced amount of oxygen transport

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Biochemical and Molecular basis for Beta Thalassemia

transport of oxygen problem: hemoglobin

defective mRNA processing causing reduced amount of oxygen transport

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Biochemical and Molecular basis for Sickle Cell Anemia

transport of oxygen problem: hemoglobin | point mutations causing abnormal structure of RBCs impairing oxygen transport

Biochemical and Molecular basis for Cystic Fibrosis

Ion channel transport problem: Cystic fibrosis transmembrane conductance regulator deletions and other mutations causing nonfunctional or misfolded proteins

Biochemical and Molecular basis for Osteogenesis Imperfecta and Ehlers-Danlos syndromes

extracellular structural problem: collagen | deletions or point mutations cause reduced amount of normal collagen or normal amounts of defective collagen

Biochemical and Molecular basis for Marfan Syndrome

cell membrane structural problem: fibrillin | missense mutation

Biochemical and Molecular basis for Duchenne/Becker muscular dystrophy

cell membrane structural problem: dystrophin | deletion with reduced synthesis

Biochemical and Molecular basis for Hereditary spherocytosis

cell membrane structural problem: spectrin, ankyrin, or protein 4.1 heterogeneous molecular lesion

Biochemical and Molecular basis for Hemophilia A

hemostasis problem: Factor VIII | deletions, insertions, nonsense mutations and others causing reduced synthesis or abnormal factor VIII

Biochemical and Molecular basis for Hereditary Retinoblastoma

growth regulation problem: Rb protein | deletions

Biochemical and Molecular basis for Neurofibromatosis Type 1

growth regulation problem: neurofibromin | heterogenous molecular lesion

Classic EDS (I/II)

skin and joint hypermobility, atrophic scars, easy bruising autosomal dominant COL5A1 and COL5A2 gene defect

Hypermobility EDS (III)

joint hypermobility, pain, dislocations autosomal dominant unknown gene defect

Vascular EDS (V)

thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility autosomal dominant COL3A1 gene defect

Kyphoscoliosis EDS (VI)

hypotonia, joint laxity, congenital scoliosis, ocular fragility autosomal recessive lysyl hydroxylase gene defect

Arthrochalasia EDS (VIIa,b)

severe joint hypermobility, skin changes (mild), scoliosis, bruising autosomal dominant COL1A1 and COL1A2 gene defect

Dermatosparaxis EDS (VIIc)

severe skin fragility, cutis laxa, brusing autosomal recessive procollagen N-peptidase gene defect

Accumulation metabolite and enzyme deficiency for glycogenosis

Glycogen | alpha 1,4 glucosidase

Sphingolipidoses- GM1 gangliosidosis

Type 1 and Type 2

Accumulation metabolite and enzyme deficiency for Type 1 and Type 2 GM1 gangliosidosis

GM1 ganglioside, galactose-containing oligosaccharides | GM1 ganglioside beta galactosidase

Spingolipidoses- GM2 gangliosidosis

Tay-Sachs disease Sandhoff disease GM2 gangliosidosis variant AB

Accumulation metabolite and enzyme deficiency for Tay Sachs

GM2 ganglioside | Hemosaminidase alpha subunit

Accumulation metabolite and enzyme deficiency for Sandhoff disease

GM2 ganglioside, globoside | Hexosaminidase beta subunit

Sulfatidoses

``` Metachromatic leukodystrophy Multiple Sulfatase Deficiency Krabbe disease Fabry disease Gaucher disease Niemann-Pick disease: Type A and B ```

Accumulation metabolite and enzyme deficiency for metachromatic leukodystrophy

sulfatide | arylsulfatase A

Accumulation metabolite and enzyme deficiency for multiple sulfatase deficiency

sulfatide, steroid sulfate, heparen sulfate, dermatan sulfate arylsulfatase A B C

Accumulation metabolite and enzyme deficiency for Krabbe disease

Galactocerebroside | Galactosylceramidase

Accumulation metabolite and enzyme deficiency for Fabry disease

ceramide trihexoside | alpha-galactosidase A

Accumulation metabolite and enzyme deficiency for Gaucher disease

glucocerebroside | glucocerebrosidase

Accumulation metabolite and enzyme deficiency for Niemann-Pick disease: types A and B

sphingomyelin | sphingomyleinase

Mucopolysaccharidoses (MPSs)

``` MPS I H (Hurler) MPS II (Hunter) ```

Accumulation metabolite and enzyme deficiency for MPS I H

dermatan sulfate, heparan sulfate | alpha-L-iduronidase

Accumulation metabolite and enzyme deficiency for MPS II

dermatan sulfate, heparan sulfate | L-idornosulfate sultatase

Mucolipidoses (MLs)

I-cell disease and pseudo-Hurler polydystrophy

Accumulation metabolite and enzyme deficiency for I-cell disease and pseudo-Hurler polydystrophy

Mucopolysaccharide, glycolipid | Deficiency of phosphorylating enzymes essential for the formation of mannose-6-phosphate

Enzyme deficiency in hepatic form of glycogenoses

glucose-6-phosphatase

Morphologic changes in hepatic form of glycogenoses

hepatomegaly and renomegaly from accumulation of glycogen

Clinical features of hepatic form of glycogenoses

failure to thrive hypoglycemia hyperlipidemia bleeding from platelet dysfunction

Enzyme deficiency in myopathic form of glycogenoses

Muscle phosphorylase

Morphologic changes in myopathic form of glycogenoses

skeletal muscle only accumulates glycogen

Clinical features of myopathic form of glycogenoses

painful cramps during exercise, fail of lactate level elevation during exercise

Enzyme deficiency for Pompe disease (type II)

lysosomal glucosidase (acid maltase)

Morphologic changes in Pompe disease of glycogenoses

cardiomegaly, hepatomegaly, skeletal muscle glycogen buildup

Clinical features of Pompe disease of glycogenoses

massive cardiomegaly

Specific type of hepatic type glycogenoses

hepatorenal-- von Gierke disease (type I)

Specific type of myopathic type of glycogenoses

McArdle disease (type V)