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Topic: Inherited disease

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	WSAVA 2001 - Inherited Disease of the Canine Eye
		Inherited or primary ocular disease may be present as a congenital defect or may develop clinically in adolescence or later in life.
		Disease control is complicated by the fact that as many as 30% of those puppies which exhibit the ophthalmoscopic signs of choroidal hypoplasia at six weeks of age, mask this lesion by pigmentation in the adult fundus, the so called “go normal” phenomenon.
		The control of inherited disease is the responsibility of the breeder and his breed society, but the veterinary profession and the national kennel clubs have their roles to play.
	www.vin.com /VINDBPub/SearchPB/Proceedings/PR05000/PR00183.htm (2167 words)

	Chapter 14 - Section 8: First Principles of Gastroenterology
		Genetic hemochromatosis is an inherited disease known to be associated with an abnormal gene tightly linked to the A locus of the HLA complex on chromosome 6.
		It is one of the most common genetic diseases, inherited as an autosomal recessive trait affecting 1 in 300 of the Caucasian population.
		The classic triad of skin pigmentation, diabetes and liver disease ("bronze diabetes") occurs in a minority of patients and is a late stage of the disease.
	gastroresource.com /GITextbook/en/chapter14/14-8.htm (1021 words)

	Eye disease, inherited eye disease
		Up to 40% of patients with certain types of strabismus (ocular misalignment) have a family history of the disease and efforts are currently under way to identify the responsible genes.
		In adults, glaucoma and age-related macular degeneration are two of the leading causes of blindness, and both appear to be inherited in a large portion of cases.
		The presence of a particular ocular sign known to be associated with a systemic disease often is the deciding factor in confirming the diagnosis of that disease.
	www.clevelandclinic.org /eye/patient_info/inherited.asp (663 words)

	Chapter 14 - Section 8: First Principles of Gastroenterology
		Genetic hemochromatosis is an inherited disease known to be associated with an abnormal gene tightly linked to the A locus of the HLA complex on chromosome 6.
		It is one of the most common genetic diseases, inherited as an autosomal recessive trait affecting 1 in 300 of the Caucasian population.
		The classic triad of skin pigmentation, diabetes and liver disease ("bronze diabetes") occurs in a minority of patients and is a late stage of the disease.
	www.gastroresource.com /GITextbook/en/Chapter14/14-8.htm (1021 words)

	Batten disease - Wikipedia, the free encyclopedia
		Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood.
		Batten disease is often fatal by the late teens or twenties.
		The disease is inherited in an autosomal recessive manner.
	en.wikipedia.org /wiki/Batten_disease (484 words)

	Sickle Cell Disease - Children's Hospital of Philadelphia
		Sickle cell disease is a group of inherited blood disorders in which the main hemoglobin (a protein in red blood cells that carries oxygen to the tissues of the body) is defective.
		A person who inherits the normal A gene from one parent and the sickle gene from the other parent has sickle cell trait (AS.) Sickle cell trait is not a form of sickle cell disease.
		For a child to have a form of sickle cell disease, he or she must inherit at least one sickle gene from one parent and either a sickle gene or another abnormal hemoglobin gene from the other parent.
	www.chop.edu /consumer/your_child/condition_section_index.jsp?id=-8808 (2180 words)

	inherited kidney disease in
		Both conditions are thought to be inherited by an autosomal dominant fashion, which means that only one parent has to have the fault for half the litter to be affected.
		Dogs affected by both these conditions may have bloody urine on and off, and the vast majority of dogs with nephritis and some of the dogs with polycystic kidneys will have abnormal levels of protein in their urine (this is shown by a high U P/C or urine protein to creatinine ratio).
		The relationship between these two diseases needs to be looked at, the value of current testing procedures needs to be continually monitored and, hopefully, in the future a genetic test will be developed that can be done once in young pups to predict which ones have the faulty gene/s.
	members.home.nl /bullterriers/health/inherited_kidney_disease_in.htm (1006 words)

	Help wanted for study of inherited intestinal disease (Site not responding. Last check: )
		The Hopkins scientists are studying families with Crohn's disease, an inherited intestinal disorder, to track down the genes thought to cause the various forms of the ailment.
		Crohn's disease, which causes painful inflammation of the intestine and severe diarrhea, may appear in one of three forms: 1) a relatively mild form localized in one area of the intestine; 2) scarring that eventually causes blockage of the intestine; and 3) a more dangerous form that sometimes perforates the intestinal wall.
		The disease strikes individuals of all ages, and 15 percent of patients are younger than 15, according to Bayless.
	www.hopkinsmedicine.org /press/1997/MAY/199711.HTM (346 words)

	Cystic fibrosis: Encyclopedia of Genetic Disorders
		Cystic fibrosis (CF) is an inherited disease that affects the lungs, digestive system, sweat glands, and male fertility.
		To understand the inheritance pattern of CF, it is important to realize that genes actually have two functions.
		Second, they are the material of inheritance: parents pass on characteristics to their children by combining the genes in egg and sperm to make a new individual.
	health.enotes.com /genetic-disorders-encyclopedia/cystic-fibrosis (4154 words)

	Fabry Disease — FAQ
		Fabry disease symptoms are characterized by angiokeratomas (telangiectatic skin lesions – reddish spots which are caused by the dilatation of small blood vessels), hypohidrosis (diminished perspiration), corneal and lenticular (lens) opacities, acroparesthesia (burning, pricking or tingling in the hands or feet), and vascular disease of the kidney, heart and/or brain.
		This is a rare disease and the prevalence of Fabry disease in males is 1 in 40,000.
		Fabry disease is an X-linked recessive lysosomal storage disorder characterized by a deficiency of the a-galactosidase A enzyme.
	www.fabrydisease.com /faq.html (819 words)

	[No title] (Site not responding. Last check: )
		For a recessive disease, all offspring of affected individuals, two thirds of their normal full-siblings, half the offspring of either parent and up to half the full-siblings of both parents carry a deleterious gene and yet appear normal.
		This means no waiting for a dog in question to mature past the age of disease onset to see if it becomes affected, eliminating the need to do test breedings to identify carriers, allows breeders to move toward their goals more rapidly without the setbacks created by inherited diseases.
		The canine disease is compared to similar diseases in other species, most often humans, to determine if there are any possible candidate genes (i.e., genes that are known to be involved in these similar diseases or in the normal processes affected by the disease may offer important leads).
	www.beaconforhealth.org /Inherited-Disease.htm (1128 words)

	eMedicine - Inherited Metabolic Disorders : Article by Pieter R Kark, MD, MA, FAAN, FACP
		Earlier onset or juvenile Huntington disease, most commonly seen in adults of middle age, often was seen in the children who inherited the gene from their father, whereas the congenital form of myotonic dystrophy was seen mostly in children born to affected mothers.
		The biochemical defect underlying Refsum disease appears to have been propagated by the western Vikings, just as the genetic defect predisposing to MS (in or near the genes for the human leukocyte antigen complex) was spread by both the eastern and the western Vikings to European populations.
		The clinical disease may be associated with attacks of sensory neuropathy, ataxia, psychosis, and even coma, and occurs when a patient with the polymorphism or genetic predisposition ingests a drug or eats food that precipitously increases the synthesis of porphyrins.
	www.emedicine.com /NEURO/topic680.htm (6140 words)

	Sickle Cell Disease
		Sickle cell disease is an inherited disorder of the red blood cells characterized by abnormally shaped red cells.
		He or she can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of sickle cell disease, such as hemoglobin SC disease and hemoglobin S-thalassemia.
		Symptoms of sickle cell disease vary and range from mild to severe, and symptoms may be less severe or different in children who have inherited a sickle cell gene from one parent and a different abnormal hemoglobin gene from the other.
	www.kidshealth.org /parent/medical/heart/sickle_cell_anemia.html (1510 words)

	Sickle Cell Disease
		He or she can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of sickle cell disease, such as hemoglobin SC disease and hemoglobin S-thalassemia.
		Symptoms of sickle cell disease vary and range from mild to severe, and symptoms may be less severe or different in children who have inherited a sickle cell gene from one parent and a different abnormal hemoglobin gene from the other.
		Infection used to cause many deaths in infants with sickle cell disease, but thanks to penicillin and appropriate immunizations, children with sickle cell disease are much more likely to live longer, healthier lives.
	kidshealth.org /parent/medical/heart/sickle_cell_anemia.html (1510 words)

	Charcot-Marie-Tooth Disease
		A genetic disorder in mouse known as Trembler Disease and caused by a defect in a myelin protein called PMP-22 was located in a region of the mouse chromosome known to contain the same genes as the CMT1A region in humans.
		In the families reported, HNPP follows autosomal dominant inheritance and is caused by a deletion of the same genetic material that is duplicated in CMT1A (the PMP-22 gene on chromosome 17).
		The disease is caused by mutations in the RAB7 gene.
	www.chg.duke.edu /diseases/cmt.html (1438 words)

	[No title]
		Since the risk for heart disease is in large part inherited, it is important to screen family members for the inherited trait found in the patient with heart disease.
		Inherited metabolic traits are major factors contributing to atherosclerosis and a genetically linked dyslipidemia has been reported in 77% of 101 CAD patients and 54% of their first and second degree relatives which illustrates the powerful link between inheritance, lipoprotein disorders, and risk for family members (4).
		The inheritance of a gene from a particular parent is generally a 50% chance situation due to separation and recombination of genes during meiosis.
	www.heartdisease.org /Traits.html (2045 words)

	Sickle Cell Disease - Lucile Packard Children's Hospital
		Sickle cell disease is an inherited blood disorder characterized by defective hemoglobin (a protein in red blood cells that carries oxygen to the tissues of the body).
		Sickle cell is an inherited disease caused by a genetic mutation.
		Once parents have had a child with sickle cell disease, there is a one in four, or 25 percent chance with each subsequent pregnancy, for another child to be born with sickle cell disease.
	www.lpch.org /DiseaseHealthInfo/HealthLibrary/hematology/sicklcel.html (2190 words)

	Inherited disease - The Institute of Human Genetics - University of Newcastle
		About 30% of subjects with Graves' disease have a member of the immediate family who has also had an autoimmune condition, most commonly autoimmune thyroid disease, so there is a strong inherited component.
		Graves' disease is caused by antibodies stimulating activity of the thyroid gland leading to hyperthyroidism.
		As autoimmune thyroid diseases are the commonest autoimmune conditions, the genes that predispose them to are likely to carry the most frequent disease alleles for autoimmunity in the population.
	www.ncl.ac.uk /ihg/research/molecular/disease/project/645 (347 words)

	genome.gov \| Inherited Disease Research Branch
		The Inherited Disease Research Branch (IDRB) develops and applies new methods and tools to identify the genetic contribution to human disease- particularly in common, complex disorders.
		IDRB investigators are statistical geneticists, a subspecialty of genetics that combines statistics, molecular genetics, and computer science to identify genetic variants responsible for increased susceptibility to disease.
		The IDRB also serves as NHGRI's link to the Center for Inherited Disease Research (CIDR), a federally supported facility located at The Johns Hopkins University in Baltimore that provides high-throughput genotyping to scientists at NIH and at research institutions around the country and the world.
	www.genome.gov /10000018 (220 words)

	Huntingtons-disease
		Huntingtons disease is an inherited disease which means it passes in the family.
		Huntingtones-disease is an inherited disirders which may caused by a single abnormal gene and it may passes through infected parents with huntingtons-disease to their child.
		If a children may not inherited the faulty gene he can't rise the huntingtons disease and can't passit on to the next generation.
	www.disease-condition.com /diseases/huntingtons-disease.html (166 words)

	Wilson Disease
		Wilson disease is diagnosed through tests that measure the amount of copper in the blood, urine, and liver.
		The disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion.
		Established in 1980, the Clearinghouse provides information about digestive diseases to people with digestive disorders and to their families, health care professionals, and the public.
	digestive.niddk.nih.gov /ddiseases/pubs/wilson/index.htm (621 words)

	Huntington's Disease - Overview - neurologychannel
		Huntington's disease (HD) is a fatal hereditary disease that destroys neurons in areas of the brain involved in the emotions, intellect, and movement.
		Huntington's disease progresses without remission over 10 to 25 years and patients ultimately are unable to care for themselves.
		In autosomal dominant inherited disease, a single abnormal allele is inherited from one parent.
	www.neurologychannel.com /huntingtons (461 words)

	Diseases - Alpha 1 Inherited Liver Disease - National Jewish Medical and Research Center
		Since Alpha-1 is a genetic condition, a person needs two copies of the faulty gene (one from each parent) to have the severe form of this condition.
		If there is concern about passing on Alpha-1 to your children, a genetic test is available to determine if you are a carrier (a person with only one copy of the defective gene).
		If increased blood pressure occurs in the vessels feeding the liver (portal hypertension) surgical interventions may be needed to prevent bleeding from the veins in the stomach or esophagus. Liver transplantation is an option of last resort in the case of liver failure, or when normal functioning at school, work, or home becomes impossible.
	www.njc.org /disease-info/diseases/copd/about/Alpha-1-Liver-Dis.aspx (814 words)

	Center for Inherited Disease Research
		The Center for Inherited Disease Research (CIDR) is a centralized facility that provides genotyping and statistical genetics services for investigators seeking to identify genes that contribute to human disease.
		CIDR concentrates primarily on multifactorial hereditary disease although analysis of single gene disorders can also be accommodated.
		CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, contract number N01-HG-65403".
	www.cidr.jhmi.edu (290 words)

	Genetic Diseases in Dobermans
		CARDIOMYOPATHY - is suspected to be an inherited disease in Dobermans.
		An echocardiogram of the heart will confirm the disease but WILL not guarantee that the disease will not develop in the future.
		A DNA test for vWD is now available - genetically: clear, carrier (inherited one disease gene), affected (inherited two disease genes) - results are not effected by stress conditions, etc.
	www.dpca.org /gendisease.html (660 words)

	Inherited Liver Diseases
		The primary form of this disease is one of the most common inherited diseases in the U.S. When one family member has this disorder, siblings, parents and children are also at risk.
		In this inherited liver disease an important liver protein known as alpha-1 antitrypsin, is either lacking or exists in lower than normal levels in the blood.
		Crohn’s disease is a chronic illness that causes inflammation of the digestive tract.
	www.webmd.com /digestive-disorders/inherited-liver-diseases (706 words)

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