Genetics Hw

Question 1

[autosomal dominant] a condition that stops parts of the brain working properly over time. It’s passed on (inherited) from a person’s parents. It gets gradually worse over time and is usually fatal after a period of up to 20 years.

Answer 1

Huntington’s disease

Question 2

[autosomal dominant] group of genetic disorders that cause tumors to form on nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis.

Answer 2

Neurofibromatoses

Question 3

[autosomal dominant] characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle.

Answer 3

Myotonic dystrophy

Question 4

[autosomal dominant] a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

Answer 4

Tuberous sclerosis

Question 5

[autosomal dominant] an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time.

Answer 5

Polycystic kidney disease (PKD)

Question 6

[autosomal dominant] an inherited blood disorder. It happens because of a problem with the red blood cells (RBCs). Instead of being shaped like a disk, the cells are round like a sphere. These red blood cells (called spherocytes) are more fragile than disk-shaped RBCs.

Answer 6

Hereditary spherocytosis

Question 7

[autosomal dominant] a blood disorder in which the blood does not clot properly. Blood contains many proteins that help the blood clot when needed.

Answer 7

Von Willebrand disease (VWD)

Question 8

[autosomal dominant] a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage.

Answer 8

Marfan syndrome

Question 9

[autosomal dominant] a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

Answer 9

Ehlers-Danlos syndrome

Question 10

[autosomal dominant] an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems.

Answer 10

Osteogenesis imperfecta (OI)

Question 11

[autosomal dominant] a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In [..], this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate.

Answer 11

Achondroplasia

Question 12

[autosomal dominant] a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase. This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.

Answer 12

Acute intermittent porphyria (AIP)

Question 13

[autosomal recessive] a disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.

Answer 13

Cystic fibrosis

Question 14

[autosomal recessive] a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body.

Answer 14

Phenylketonuria [PKU]

Question 15

[autosomal recessive] “galactose in the blood”. This inherited disorder prevents your body from breaking down the sugar galactose, causing it to build up to toxic levels in your blood. People with galactosemia have to avoid dairy products, breast milk and most baby formulas.

Answer 15

Galactosemia

Question 16

a rare but potentially serious inherited condition. It means the body can’t process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine.

Answer 16

Homocystinuria (HCU)

Question 17

[autosomal recessive] inborn errors of metabolism characterized by the accumulation of substrates in excess in various organs’ cells due to the defective functioning of lysosomes. They cause dysfunction of those organs where they accumulate and contribute to great morbidity and mortality.

Answer 17

Lysosomal storage diseases (LSDs)

Question 18

[autosomal recessive] a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson’s disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.

Answer 18

Wilson’s Disease

Question 19

[autosomal recessive] a disorder in which the body can build up too much iron in the skin, heart, liver, pancreas, pituitary gland, and joints. Too much iron is toxic to the body and over time the high levels of iron can damage tissues and organs and lead to.

Answer 19

Hemochromatosis

Question 20

[autosomal recessive] a rare condition that changes the way the body uses and stores glycogen, a form of sugar.

Answer 20

Glycogen storage disease (GSD)

Question 21

[autosomal recessive] causes the red blood cells to become hard and sticky and look like a C-shaped

Answer 21

Hemoglobin S trait (sickle cell trait)

Question 22

[autosomal recessive] an inherited blood disorder caused when the body doesn’t make enough of a protein called hemoglobin. Malformed rbc

Answer 22

Thalassemia

Question 23

[autosomal recessive] a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys.

Answer 23

Congenital adrenal hyperplasia (CAH)

Question 24

[autosomal recessive] a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

Answer 24

Ehlers-Danlos syndrome

Question 25

[autosomal recessive] a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.

Answer 25

Alkaptonuria

Question 26

[autosomal recessive] most severe type of muscle atrophy. It can be from an injury to, or disease of a nerve that connects to the muscle. This type of muscle atrophy tends to occur more suddenly than physiologic atrophy.

Answer 26

Neurogenic atrophy

Question 27

[autosomal recessive] an inherited disorder that affects some of the body’s nerves. It is caused by a gene defect that is inherited from both parents. Symptoms often begin in late childhood and can include trouble walking, fatigue, changes in sensation, and slowed speech. These tend to get worse over time.

Answer 27

Friedreich’s ataxia

Question 28

[autosomal recessive] a group of hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy

Answer 28

Spinal muscular atrophy (SMA)

Question 29

[sex “X” linked] a genetic disorder characterized by the progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles.

Answer 29

Duchenne muscular dystrophy

Question 30

[sex “X” linked] rare X-linked bleeding disorders caused by mutations in the genes encoding coagulation factor VIII (FVIII) and factor IX (FIX).

Answer 30

Hemophilia A and B

Question 31

[sex “X” linked] deficiency is an inherited condition. It is when the body doesn’t have enough of an enzyme called [..]. This enzyme helps red blood cells work properly. A lack of this enzyme can cause hemolytic anemia. This is when the red blood cells break down faster than they are made.

Answer 31

G6PD (glucose-6-phosphate dehydrogenase)

Question 32

[sex “X” linked] an inherited disorder in which a person has very low levels of protective immune system proteins called immunoglobulins. Immunoglobulins are a type of antibody. Low levels of these antibodies make you more likely to get infections.

Answer 32

Agammaglobulinemia

Question 33

[sex “X” linked] a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). [..] is an X-linked recessive disease carried by the female parent and passed on to a male child. [..] is present at birth in males.

Answer 33

Lesch-Nyhan syndrome (LNS)

Question 34

[sex “X” linked] a genetic disorder. [..]is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1). [..] usually makes a protein called FMRP that is needed for brain development. People who have [..] do not make this protein.

Answer 34

Fragile X syndrome (FXS)