Genetic Description Websites

Disorder
Alzheime A progressive brain
http://www.ygyh.org/?syndrome

r’s disorder that gradually http://www.alz.org
Disease destroys a person’s
memory and ability to http://www.alzheimers.org
learn, reason, make
judgments, and http://www.alzheimers.org.uk
communicate.
http://www.nlm.nih.gov/medlineplus/alzheimersdisea
se

http://www.mamashealth.com/Alzheimers

http://www.alzforum.org

http://www.alzinfo.org/

Angelma Prader-Willi syndrome
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
rid=gnd.section.235
n is an uncommon
Syndrom inherited disorder http://www.ninds.nih.gov/disorders/angelman/angel
characterized by man
e/ Prader- mental retardation,
Willi decreased muscle http://ghr.nlm.nih.gov/condition=angelmansyndrome
Syndrom tone, and life-
http://www.angelman.org
e threatening obesity.
http://www.pwsausa.org
When this genetic
mutation is inherited http://www.pwsresearch.org/default.html
from the mother,
Angelman Syndrome http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
arises which causes call=bv.View..ShowSection&rid=gnd.section.165
neurological problems
including jerky
movements and
spontaneous laughter.

Celiac A disease that
http://www.nlm.nih.gov/medlineplus/celiacdisease

Disease triggers an http://www.csaceliacs.org/celiac
(Celiac autoimmune
response that causes http://digestive.niddk.nih.gov/ddiseases/pubs/celiac
Sprue) damage to the small
intestine when http://www.gluten.net/celiac
certain types of
http://www.labtestsonline.org/understanding/analyte
protein, called s/celiac
gluten, are eaten.
http://www.celiac.org

Cri du Cri du chat syndrome http://www.icomm.ca/geneinfo/criduchat
is a group of
chat symptoms that result http://ghr.nlm.nih.gov/condition=criduchatsyndrome
Syndrom from missing a piece
of chromosome http://gslc.genetics.utah.edu/units/disorders/karyoty
e (Cat’s
Cry number 5. The pe/criduchat.cfm
syndrome’s name is
Syndrom based on the infant’s http://www.madisonsfoundation.org
e, cry, which is high
pitched and sounds http://www.ncbi.nlm.nih.gov/entrez/query
Monosom like a cat.
y 5p) http://members.tripod.com/%7Eyenial/students.html

Cystic A recessive genetic
www.ygyh.org/?syndrome

Fibrosis disease in which the http://www.cff.org/home
exocrine glands of
afflicted individuals http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
produce abnormally call=bv.View..ShowSection&rid=gnd.section.242
thick mucus that
http://www.cfri.org/home
block the intestines
and lung http://www.nlm.nih.gov/medlineplus/ency/article/000
passageways. People 107.htm
with the disease have
a very hard time http://learnaboutcf.tripod.com
breathing and often
die from suffocation. http://www.cysticfibrosis.com

Diabetes, Diabetes is a chronic
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
rid=gnd.section.229
type 1 metabolic disorder
(Juvenile that adversely affects http://diabetes.niddk.nih.gov/dm/pubs/overview/inde
the body's ability to x.htm
Diabetes) manufacture and use
and Type insulin, a hormone http://familydoctor.org/480.xml
2 necessary for the
http://www.jdrf.org
conversion of food
into energy. http://www.diabetes.org/home.jsp

http://ndep.nih.gov

Down Down syndrome is a www.ygyh.org/?syndrome
chromosome
Syndrom abnormality, usually http://www.ndss.org
e due to an extra copy
of the 21st http://www.nads.org
(Trisomy chromosome. This
21) syndrome usually, http://www.down-syndrome.info
although not always,
results in mental http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?
retardation and other id=190685
conditions.
http://www.nas.com/downsyn/benke.html

Duchenne The muscular www.ygyh.org/?syndrome
dystrophies are a
& Becker group of genetic http://www.ncbi.nlm.nih.gov/disease/DMD.html
Muscular diseases characterized
by progressive http://www.mdausa.org
Dystroph weakness and
y degeneration of the http://www.mayoclinic.com/invoke.cfm?id=DS00200
skeletal muscles that
control movement. http://www.nlm.nih.gov/medlineplus/musculardystrop
hy.html
http://www.parentprojectmd.org/news/latest/index.ht
ml

Fragile X Fragile X is a www.ygyh.org/?syndrome
hereditary/genetic
Syndrom condition caused by a www.fragilex.org
e mutation on the X
chromosome. It can http://www.fraxa.org
cause learning
disabilities, or severe http://www.ncbi.nlm.nih.gov/disease/FMR1.html
intellectual
complications http://www.nlm.nih.gov/medlineplus/ency/article/001
including autism. 668.htm

http://www.nfxf.org/html

Hemophil Hemophilia is a rare www.ygyh.org/?syndrome
inherited bleeding
ia A or B disorder that causes http://www.hemophilia.org/home
blood problems in
blood clotting. http://www.wfh.org

http://www.ncbi.nlm.nih.gov/disease/hemoA.html

www.hemophiliagalaxy.com

http://www.nlm.nih.gov/medlineplus/hemophilia.html

http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
rid=gnd.section.95

Huntingt A hereditary, www.hdsa.org
degenerative brain
on disorder for which www.ygyh.org/?syndrome
Disease there is no effective
treatment or cure. HD http://www.hdac.org
slowly diminishes the
affected individual's http://www.ncbi.nlm.nih.gov/disease/Huntington.html
ability to walk, think,
talk and reason. http://www.huntington-assoc.com

http://www.hdfoundation.org

http://hdlighthouse.org

Klinefelte In addition to http://www.aaa.dk/TURNER/ENGELSK/INDEX.HTM
occasional breast
r enlargement, lack of http://www.nichd.nih.gov/publications/pubs/klinefelte
Syndrom facial and body hair, r.htm
and a rounded body
e (XXY type, XXY males are http://www.genetic.org/ks/scvs/47xxy.htm
Syndrom more likely than other
e) males to be http://www.nlm.nih.gov/medlineplus/klinefelterssyndr
overweight, and tend ome.html
to be taller than their
fathers and brothers. http://ghr.nlm.nih.gov/condition=klinefeltersyndrome

http://www.ksa-uk.co.uk/

http://47xxy.org/
Maple Maple Syrup Urine http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
Disease is an inherited rid=gnd.section.253
Syrup disorder so named
Urine because one of its first http://www.meadjohnson.com/metabolics/maplesyru
signs is urine that has purinedesease.html
Disease an odor reminiscent of
maple syrup. http://www.msud-support.org/

http://www.nlm.nih.gov/medlineplus/ency/article/000
373.htm

http://www.savebabies.org/diseasedescriptions/msud
.php

http://rarediseases.about.com/od/rarediseases1/a/06
2004.htm
Obesity Obesity is an excess of http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
body fat that rid=gnd.section.232
frequently results in a
significant impairment http://www.cdc.gov/genomics/info/perspectives/obesi
of health. ty.htm

http://www.nlm.nih.gov/medlineplus/obesity.html

http://www.obesite.chaire.ulaval.ca/genes.html

http://www.cancer.gov/newscenter/obesity1

http://www.niddk.nih.gov/
Parkinson Parkinson's disease is http://www.ninds.nih.gov/disorders/parkinsons_disea
a motor system se/parkinsons_disease
’s disorder which is the
Disease result of the loss of http://www.apdaparkinson.org/user/index.asp
dopamine-producing
brain cells. Parkinson’s http://www.parkinson.org/site/pp.asp?
can cause tremors, c=9dJFJLPwB&b=71117
rigidity, slowness of
movement and http://www.michaeljfox.org/
postural instability. http://www.parkinsonalliance.org/

http://altrue.he.net/~thepi/site/parkinson/

Phenylket Phenylketonuria is a www.ygyh.org/?syndrome
hereditary disorder in
onuria which the amino acid http://www.pkunews.org/
(PKU) phenylalanine isn't
properly metabolized. http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html
As a result, the amino
acid can build up to http://www.mayoclinic.com/invoke.cfm?id=DS00514
dangerous levels in
the blood and other http://www.pkunetwork.org
tissues, causing
mental retardation http://www.nlm.nih.gov/medlineplus/tutorials/pku
and other serious
health problems. http://www.savebabies.org/diseasedescriptions/pku.p
hp

http://www.marchofdimes.com/professionals
Polycysti Polycystic kidney www.ygyh.org/?syndrome
disease is a genetic
c Kidney disorder characterized http://www.pkdcure.org/home.html
by the growth of
Disease numerous cysts in the http://www.ncbi.nlm.nih.gov/disease/PKD.html
kidneys. The cysts can
reduce kidney function http://kidney.niddk.nih.gov/kudiseases/pubs/polycysti
and lead to kidney c
failure.
http://familydoctor.org/142.xml

http://ghr.nlm.nih.gov/condition=polycystickidneydis
ease

http://www.kidney.org
Sickle Sickle cell anemia is www.ygyh.org/?syndrome
an inherited disorder
Cell that affects http://www.ncbi.nlm.nih.gov/disease/sickle.html
Anemia hemoglobin, a protein
that enables red blood http://www.sicklecellinfo.net
(Sickle cells to carry oxygen
Cell to all parts of the http://www.sicklecelldisease.org/about_scd/faqs.pht
Disease) body, resulting in a ml
low number of red
blood cells and http://www.ascaa.org
periodic pain.
http://ghr.nlm.nih.gov/ghr/disease/sicklecellanemia

Tay-Sachs A rare inherited
www.ygyh.org/?syndrome

Disease disorder that causes http://www.ntsad.org
progressive
destruction of nerve http://www.marchofdimes.com/professionals/681_12
cells in the brain and 27.asp
spinal cord, found to
http://www.genome.gov/page.cfm?
be more common in pageID=10001220
people of Ashkenazi
Jewish heritage than http://ghr.nlm.nih.gov/condition=taysachsdisease
in those with other
backgrounds. http://www.ninds.nih.gov/disorders/taysachs/taysach
s

http://kidshealth.org/parent/system/medical/genetic_
counseling

http://www.ncbi.nlm.nih.gov/disease/Tay_Sachs

Triple-X A rare chromosomal http://www.aaa.dk/TURNER/ENGELSK/INDEX
genetic syndrome with
Syndrom one or more extra X http://www.mayoclinic.com/invoke.cfm?
e chromosomes, leading retryCount=2&id=AN00351
to XXX (or more rarely
(Trisomy XXXX or XXXXX), http://ghr.nlm.nih.gov/condition=triplexsyndrome
X) instead of the usual
XX. These people are http://www.madisonsfoundation.org
females and can be
unaffected, or may http://www.med.umich.edu/1libr/yourchild/xxxsyn
suffer from problems
such as infertility and http://www.wrongdiagnosis.com/t/triple_x_syndrome/
reduced mental acuity. intro

Turner’s Turner syndrome is a http://www.aaa.dk/TURNER/ENGELSK/INDEX
chromosomal
Syndrom condition that http://www.turner-syndrome-us.org/
e exclusively affects
girls. It occurs when http://www.tss.org.uk/
one of the two X
chromosomes http://www.turnersyndrome.ca/
normally found in
females is missing or http://turners.nichd.nih.gov/
incomplete.
http://www.turnerssyndrome.org.au/

XYY A condition in which http://www.aaa.dk/TURNER/ENGELSK/INDEX
males have two Y
Syndrom http://www.ddhealthinfo.org/ggrc/doc2.asp?
chromosomes; side
e effects include being
ParentID=5199

more physically active http://my.webmd.com/hw/mens_conditions/nord812.
and having a asp
tendency to delayed
mental maturation. http://ghr.nlm.nih.gov/condition=47xyysyndrome

http://www.nlm.nih.gov/medlineplus

http://www.rarediseases.org

Name: ________________________ Disorder: _______________

Genetics Disorder Grading Rubric
Presentation Requirements Earne Possibl Comments
d e
Points Points
Slide 1:Introduction 5
 Name the disorder
 Introduce team members
Slide 2: Definition of the disorder 5
 What happens to the body?
 What part of the body does
it generally affect?
Slide 3: Description of the 10
symptoms
 List all of the possible
effects on the body
Slide 4:Cause of the disorder 20
 What happens in the body to
cause the disease?
 Is it a mutation? A genetic
tendency triggered by other
factors?
Slide 5:How the disorder is 20
inherited
 Is it sex-linked?
 Is there a particular
chromosome it is located
on?
 Is it recessive or dominant?
Slide 6: How the disorder is 10
treated
 Medications? Gene therapy?
Slide 7:How the disorder is 10
diagnosed
 What tests are done? Is
genetic counseling an
option?
Slide 8:How many and what type 10
of people are likely to have the
disorder
 Is it more common in a
certain group of people?
 How common is it?
Slide 9:Conclusion Paragraph 10
 Follow conclusion paragraph
template.

Total Points Earned 100