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Topic: Inherited disorder

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	Genetic disorder - Wikipedia, the free encyclopedia
		A number of genetic disorders are due to the change of a single gene, resulting in an enzyme or other protein not being produced or having altered functionality, they are called monogenic disorders.
		X-linked dominant disorders are caused by mutations in genes on the X chromosome.
		Y-linked disorders are caused by mutations on the Y chromosome.
	en.wikipedia.org /wiki/Genetic_disorder (1399 words)

	IDPH - Center for Congenital and Inherited Disorders
		Galactosemia is an inheritable disorder caused by a lack of the GALT (gactose-1-phosphate uridyl transferase) enzyme needed to break down the milk sugar galactose.
		Phenylketonuria is an inherited disorder caused by the lack of an enzyme needed to breakdown the protein phenylalanine.
		Trisomy 18 is a chromosome disorder caused by the presence of a third or portion of an third chromosome 18.
	www.idph.state.ia.us /genetics/genetic_disorders.asp (1815 words)

	Inherited Retinal Disorders (Site not responding. Last check: 2007-10-31)
		There are several types of inherited retinal degenerations, including rod-cone, cone, and cone-rod dystrophies, stationary night-blinding disorders, and pigment epithelial dystrophies.
		Fundus albipunctatus is an autosomal recessive disorder characterized by early onset of nonprogressive poor night vision and yellowish-white spots scattered throughout the peripheral fundus.
		Gyrate atrophy is one of the few progressive night-blinding disorders in which a metabolic defect has been implicated and for which therapeutic trials with a low protein diet are under investigation.
	www.lkc.com /inherited.htm (843 words)

	Open Directory - Health:Conditions and Diseases:Genetic Disorders (Site not responding. Last check: 2007-10-31)
		Costello Syndrome is an extremely rare disorder characterized by growth delay after birth (postnatal), leading to short stature; excessive, redundant loose skin on the neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares); mental retardation; and/or characteristic facial appearance.
		An autosomal recessive disorder with an increased incidence in the Jewish population that is invariably fatal at birth due to renal failure and pulmonary hypoplasia.
		Usher syndrome is a rare inherited disorder primarily characterized by deafness due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that causes progressive loss of vision.
	dmoz.org /Health/Conditions_and_Diseases/Genetic_Disorders/desc.html (3542 words)

	Some Inherited Disorders in Labradors
		Since inherited elbow diseases are usually detected in affected dogs at a young age, some established "old school" breeders do not have elbow x-rays taken if the dog has not been lame.
		TVD is known to be an inherited disorder.
		Von Willebrand's Disease is an inherited bleeding disorder that is rare in Labradors.
	www.sunsetlabs.com /about_labrador_retrievers/common_inherited_problems.html (769 words)

	Genetic Eye Disorders
		A genetic (or inherited) disorder is a condition that may be passed on from parents to their children through their genes.
		Due to the medical implications of genetic disorders for family members as well as the affected individual, counseling is an important part of managing genetic disorders.
		Assurance that the parents of children diagnosed with genetic disorders are not at fault could lighten their emotional burden.
	uic.edu /com/eye/LearningAboutVision/EyeFacts/GeneticEyeDisorders.shtml (959 words)

	Genetic Disorders: The Links to Diet
		The old school of thinking that a birth defect or inherited disorder had to be caused by a single gene is no longer widely held in medical circles.
		The breakthrough concept in research is that many birth defects and inherited disorders are influenced by both genes and environmental factors, especially nutrition.
		Many other disorders that were once thought to be caused by single genes may actually be the results of a complex set of factors involving both nutrition and genes.
	www.ctds.info /genetic_disorders.html (1968 words)

	Inheriting Genetic Conditions - Genetics Home Reference
		With each pregnancy, a woman who carries an X-linked recessive disorder has a 50 percent chance of having sons who are affected and a 50 percent chance of having daughters who carry one copy of the mutated gene (illustration).
		The chance of developing a genetic condition with codominant inheritance, and the characteristic features of that condition, depend on which versions of the gene are passed from parents to their child (illustration).
		A woman with a disorder caused by changes in mitochondrial DNA will pass the mutation to all of her daughters and sons, but the children of a man with such a disorder will not inherit the mutation (illustration).
	ghr.nlm.nih.gov /info=inheritance/show/alltopics (3938 words)

	ScienceDaily: Researchers Discover Genetic Syndrome Linked To Inherited Birth Disorder
		The risk of inheriting this syndrome is 50 percent for a child with one parent affected by it and it's highly likely that it runs in families.
		Eating disorder -- An eating disorder is a compulsion in which the main problem is a person eats in a way which disturbs their physical health.
		Disorders of Hemoglobin is the first comprehensive reference on the genetic and acquired disorders of hemoglobin in over a decade.
	www.sciencedaily.com /releases/2003/11/031106052251.htm (2043 words)

	Schmid Type Metaphyseal Chondrodysplasia
		In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease.
		Spahr Type Metaphyseal Chondrodysplasia is an extremely rare inherited disorder characterized by abnormal development of the cartilage and subsequent bone formation in the long bones of the arms and legs (metaphyseal chondrodysplasia), resulting in severely bowed legs and short stature (short-limbed dwarfism).
		Vitamin D Deficiency Rickets is a rare inherited disorder characterized by skeletal abnormalities due, in most cases, to a deficiency in vitamin D levels (Type I) or inability to properly utilize vitamin D (Type II).
	hw.healthdialog.com /kbase/nord/nord960.htm (1608 words)

	Exploring Autism (Site not responding. Last check: 2007-10-31)
		Autistic disorder is a developmental disorder that affects a person's ability to communicate, form relationships with others, and respond appropriately to the environment.
		Rett disorder is genetic in origin, and is among the most common genetic cause of profound intellectual and physical disability in girls, occurring more commonly than 1 in 10,000 female births.
		A gene for Rett disorder was identified in 1999.
	www.exploringautism.org /faq.htm (445 words)

	Medical Dictionary: Inherited disorder - WrongDiagnosis.com
		Inherited disorder: a disease or disorder that is inherited genetically
		Terms that may be interchangeable with Inherited disorder:
		A hierarchical classification of Inherited disorder: The following list attempts to classify Inherited disorder into categories where each line is subset of the next.
	www.wrongdiagnosis.com /medical/inherited_disorder.htm (155 words)

	WFH - Other bleeding disorders
		Factor II (prothrombin) deficiency is an inherited bleeding disorder caused by a defect or lack of a protein in the blood (factor II) that helps blood clot.
		Factor V deficiency disorder is caused by a defect or lack of a protein (factor V) in the blood that helps blood clot.
		The disorder is also known as hemophilia C. It differs from hemophilia A or B in that there is no bleeding into joints and muscles.
	www.wfh.org /2/1/1_3_Other_bleeding_disorders.htm (1756 words)

	Charcot-Marie-Tooth disorder
		Charcot-Marie-Tooth disorder (CMT) is an umbrella term for a range of certain inherited genetic disorders that affect the peripheral nervous system.
		Most inherited disorders can only be passed on by one or two patterns of inheritance.
		However, CMT can be inherited via most known patterns of inheritance, and it is the most common inherited disorder of the peripheral nervous system.
	www.betterhealth.vic.gov.au /bhcv2/bhcarticles.nsf/pages/Charcot-Marie-Tooth_disorder (1012 words)

	Bipolar Focus - Bipolar Disorder (Manic Depression) Genetics
		Observation of families has shown that children of one parent with bipolar disorder are seven to twenty times more likely to have manic depression than children of parents who do not have bipolar disorder.
		Adoption studies have shown that it is bipolar disorder in the biological rather than the adoptive parents that is relevant for the increased risk of bipolar disorder in children.
		However, the diagnosis of schizoaffective disorder has features of both diseases, and this diagnosis is made occasionally in the relatives of those who have either bipolar disorder or schizophrenia, indicating that there is some overlap between the two conditions.
	www.moodswing.org /treat/gene1.htm (2064 words)

	Hemophilia: inherited blood disorder causing lack of ability to stop bleeding - Lucile Packard Children's Hospital
		Hemophilia types A and B are inherited diseases passed on to children from a gene located on the X chromosome.
		Its inheritance is autosomal dominant, which means that a parent with the gene has a 50/50 chance to pass it on.
		Children with von Willebrand disease may have inherited the disorder or it is possible to have had the disease caused by certain medications, autoimmune disorders, kidney problems, and certain forms of cancer.
	www.lpch.org /DiseaseHealthInfo/HealthLibrary/hematology/bledhemo.html (1332 words)

	UTHSC researchers map gene for rare inherited disorder
		In real life, however, gene research is hard work focusing on the prevention of inherited disorders.
		Specifically, gene mapping, a powerful technique used in modern molecular genetics, helps identify unknown genes in families with a particular inherited disorder, which includes many psychiatric diseases.
		The challenge is to look in that region of the chromosome indicated by the mapped marker and identify the exact gene, and then a mutation, that’s responsible for the disease in a given family.
	www.uthscsa.edu /opa/issues/new33-32/medicine.htm (629 words)

	Greig Cephalopolysyndactyly Syndrome
		Greig Cephalopolysyndactyly Syndrome, a very rare inherited disorder that is present at birth (congenital), is characterized by abnormalities of the fingers and toes (digits) and the head and facial (craniofacial) area.
		For example, some cases where Greig Cephalopolysyndactyly Syndrome was inherited as a dominant trait, the disorder was shown to result from a balanced chromosomal translocation in one of the parents involving chromosome 7p13.
		In this disorder, the polydactyly is considered preaxial; that is, the extra digit or digits are toward the thumb side of the hand and the great toe side of the foot.
	hw.healthdialog.com /kbase/nord/nord697.htm (2231 words)

	\|\| DukeMedNews \|\| Gene With Broad Role Also Causes Prevalent, Inherited Nerve Disorder
		The disorder affects approximately 1 in every 2,500 people, making it one of the most common of all hereditary disorders, said the researchers.
		Their findings also reveal a previously unknown link between CMT and a deficiency of white blood cells, suggesting that defects in dynamin 2 might underlie both conditions, the researchers reported in the Jan. 30, 2005, issue of Nature Genetics.
		As evidence mounts for the genetic basis of the disorder's different forms, scientists can begin to develop therapies to specifically target the root causes of CMT in particular families, added senior author Jeffery Vance, M.D., associate director of the Center for Human Genetics and professor of medicine at Duke.
	www.dukemednews.org /news/article.php?id=8405 (1125 words)

	Von Willebrand Disease - All Sections (printer-friendly)
		Von Willebrand disease is an inherited bleeding disorder.
		That means that a parent with the disease has a 50 percent or 1 in 2 chance of passing the gene to each of his or her children.
		Unlike hemophilia, another inherited bleeding disorder that occurs mostly in males, von Willebrand disease occurs equally in males and females.
	www.nhlbi.nih.gov /health/dci/Diseases/vWD/vWD_All.html (1935 words)

	The Arc's Q & A on PKU (Site not responding. Last check: 2007-10-31)
		Single-gene disorders are caused by a mutant or abnormal gene.
		Boys and girls are equally at risk of inheriting this disorder.
		Incidence: One in every 12,000 to 15,000 babies is born with PKU in the U.S. Cause: An inherited disorder caused by a build up of an amino acid called phenylalanine that, if left untreated, causes mental retardation.
	www.thearc.org /faqs/pku.html (1516 words)

	Thalassemia: inherited disorder affecting production of normal hemoglobin - Lucile Packard Children's Hospital
		Thalassemia is an inherited disorder that affects the production of normal hemoglobin (a type of protein in red blood cells that carries oxygen to the tissues in the body).
		This disorder is common in populations around the Mediterranean Sea, Africa, and Southeast Asia.
		The presenting signs and symptoms of all forms of thalassemia is anemia (a deficiency of red blood cells) in varying degrees from mild to severe.
	www.lpch.org /diseaseHealthInfo/HealthLibrary/hematology/thalhub.html (212 words)

	Inherited Metabolic Disorder More Popular than Thought - Softpedia
		A recent research informs that the inherited metabolic disorder medically termed as SCADD (short-chain acyl-coenzyme A dehydrogenase deficiency) is not that rare as previously thought.
		Results showed that 1 in 50,000 babies are born with the SCADD inherited metabolic disorder.
		The results of the recently carried out study, which found the SCADD disorder to be more popular among newborn babies than previously estimated may call for routine screening for the metabolic inherited disorder in infants.
	news.softpedia.com /news/Inherited-Metabolic-Disorder-More-Popular-than-Thought-33620.shtml (518 words)

	Penn Today Online: Jul/Aug 2002 - Vision Researchers Solve Rare Inherited Retinal Disorder
		The posthumous donation of eyes from a patient with an inherited retinal disease, Enhanced S Cone Syndrome (ESCS) has taught researchers at Penn Eye Care at the Scheie Eye Institute more about ESCS and the role of NR2E3, the gene that causes this form of blindness.
		ESCS, a member of the retinitis pigmentosa (RP) family of inherited diseases of the retina, causes night blindness and increased sensitivity to blue light.
		Researchers do not have a complete understanding of how rods and cones develop, but the death of these cells is a key component to many forms of inherited blindness, including RP and age related macular degeneration (AMD).
	www.pennhealth.com /phys_forum/pto/jul_aug02/retinal.html (909 words)

	Heavy Menstrual Periods May Signal Inherited Bleeding Disorder (Site not responding. Last check: 2007-10-31)
		that a substantial proportion of women with menorrhagia have an inherited bleeding disorder.
		More women with the inherited bleeding disorders reported that they had had menorrhagia since their periods started.
		Menorrhagia may be the only sign of an inherited bleeding disorder, so the authors suggest that all women with menorrhagia and normal pelvic examinations should be investigated for these disorders especially von Willebrand's before invasive procedures are done.
	www.docguide.com /dg.nsf/PrintPrint/B6F161F30425E7B6852565AA004FB23E (484 words)

	Allhealthnet.com - National Organizations for Rare Disorders (Site not responding. Last check: 2007-10-31)
		The University of Miami ALS Clinical and Research Center provides the highest level of care and multidimensional support for patients with Amyotrophic Lateral Sclerosis (ALS) and supports the families from the time of diagnosis to the end stages of the disease, while conducting advanced research into the cause and cure of ALS.
		Organization dedicated to the study and cure of Niemann-Pick Disease a rare inherited disorder of childhood.
		Organization dedicated to the support of those affected by (MPS) a rare inherited disease in which the body is deficient in certain enzymes.
	www.allhealthnet.com /Rare+Disorders/Nord (7085 words)

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