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Topic: Aagenaes syndrome

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Aase syndrome

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	Health topics Diseases & Causes A-I from Kosmix
		AC-AC (from Acral Lentiginous Melanoma to Acute Respiratory Distress Syndrome)
		BL-BR (from Blepharo Facio Skeletal Syndrome to Brachydactyly Preaxial With Hallux Varus And Thumb Abduction)
		HE-HE (from Hemi 3 Syndrome to Hereditary Elliptocytosis)
	www.kosmix.com /c_health_conditions2-ai-b.html (361 words)

	Aagenaes syndrome - Wikipedia, the free encyclopedia
		A syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts
		Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB (2000) Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.
		Heiberg A (2001) Aagenaes syndrome: lymphedema and intrahepatic cholestasis.
	en.wikipedia.org /wiki/Aagenaes_syndrome (193 words)

	Aagenaes syndrome - WrongDiagnosis.com
		Aagenaes syndrome: A rare inherited birth abnormality involving underdeveloped lymph vessels which results in swollen legs and liver problems.
		Aagenaes syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Aagenaes syndrome, or a subtype of Aagenaes syndrome, affects less than 200,000 people in the US population.
	wrongdiagnosis.com /a/aagenaes_syndrome/intro.htm (336 words)

	AAGENAES SYNDROME
		Aagenaes (1974) therefore suggested the designation 'hereditary cholestasis of Norwegian type,' when cholestasis is combined with lymphedema.
		Aagenaes (1998) gave a comprehensive review of the syndrome that bears his name with a description of new cases and follow-up from infancy to adulthood.
		Aagenaes (2001) pointed out that the common denominator of the syndrome that bears his name is a 'relatively generalized' lymphatic anomaly.
	www.lymphedemapeople.com /thesite/Aagenaes_syndrome.htm (2259 words)

	Rikshospitalet: Senter for sjeldne sykdommer og syndromer
		Lymphedema Cholestasis Syndrome 1 (earlier called Hereditary Cholestasis Lymphedema syndrome) is a disorder where the bile flow from liver to intestine is obstructed, called Cholestasis.
		Lymphedema Cholestasis Syndrome 1 was described for the first time in 1968 by the Norwegian physicians Øystein Aagenæs, Carl Birger van der Hagen and Sigvald Refsum.
		Cholestasis causes an obstruction of the bile flow from the liver to the intestine.
	ssss.oslonett.no /side.php?aid=238&s=english (1003 words)

	Topics Diseases & Causes from Aagenaes Syndrome to Acral Dysostosis Dyserythropoiesis from Kosmix
		Aase syndrome is thought to be an autosomal dominant inherited disorder.
		The anemia is caused by underdevelopment of the...
		This is a rare, heterogeneous syndrome and does not appear to be caused by a...
	www.kosmix.com /c_health_conditions2-a0-b.html (1679 words)

	ESHG Posters 3
		Spondylothoracic dysplasia (Jarcho-Levin syndrome) and Spondylocostal dysostosis, the confusing vertebral malsegmentation syndromes.
		Arts syndrome was first described in a Dutch family with X-linked ataxia, muscle weakness in response to infections, deafness, loss of vision in early childhood and a fatal course.
		The 3p- syndrome results from deletion of a terminal segment of the short arm of one chromosome 3, and is characterized by mental retardation, growth failure, hypotonia, and multiple congenital anomalies, such as microcephaly, blepharoptosis, hypertelorism, ear anomalies, heart defects and deafness.
	www.medacad.org /eshg/abstracts/posters3.htm (16548 words)

	Alagille Syndrome
		Note: The diagnosis of Alagille syndrome may be difficult because of the highly variable expressivity of the clinical manifestations.
		Pulmonic vascular system abnormalities are seen in isolation as well as in syndromes such as Noonan syndrome, Watson syndrome (pulmonic stenosis and neurofibromatosis type 1), LEOPARD syndrome, Down syndrome, and Williams syndrome.
		Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood.
	www.ncbi.nlm.nih.gov /books/bv.fcgi?rid=gene.chapter.alagille (5556 words)

	Conditions Related to Lymphedema
		Aagenaes syndrome is caused by congential hypoplasia (underdevelopment) of the lymph vessels and recurring hypoplasia during infancy.
		Figueroa Syndrome includes a cleft palate and lymphedema, due to a mutation of the FOXC2 gene.
		Jeken's Syndrome begins with onset of lymphedema during infancy and includes mental retardation, abnormal fat distribution at buttocks, and ataxia (inability to coordinate muscular movements).
	www.suite101.com /article.cfm/lymphedema/112293/2 (458 words)

	The molecular genetics of familial intrahepatic cholestasis -- JANSEN and MÜLLER 47 (1): 1 -- Gut
		syndrome and was described by Summerskill and Walshe in 1959.
		Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome.
		Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome).
	gut.bmjjournals.com /cgi/content/full/47/1/1 (3086 words)

	New Page 0
		Alagille syndrome (arteriohepatic dysplasia) consists of hypoplastic intrahepatic bile ducts, chron
		(2) Dubin-Johnson syndrome and Rotor's syndrome are autosomal recessive conditions that cause nonhemolytic conjugated hyperbilirubinemia.
		Zellweger's cerebrohepatorenal syndrome is an autosomal recessive disorder.
	ofattal.bol.ucla.edu /neonatalcholestasis.htm (1072 words)

	Rapid Recovery Hyperbarics : Research References
		Aagenaes O (1961) Light and electronmicroscopy study of skin capillaries of the diabetic.
		Multiplex PCR for the detection of Mycoplasma fermentans, M. hominis and M. penetrans in cell cultures and blood samples of patients with Chronic Fatigue Syndrome.
		Cianci P (1988) Salvage of the problem wound and potential amputation with wound care and adjunctive hyperbaric oxygen therapy: an economic analysis.
	www.hbot4u.com /lupus6.html (945 words)

	How Do You Get Lymphedema?
		Sweet's syndrome on the area of postmastectomy lymphoedema.
		Milroy's Disease or Milroy's Syndrome - arm and/or leg swelling evident at birth.
		Lipedema - also referred as "painful fat syndrome." This is in itself a little understood and under diagnosed medical condition.
	journals.aol.com /patoco2/Lymphedemaville/entries/1375 (295 words)

	Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome) -- Morris et al. 34 (10): 852 ...
		Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome) -- Morris et al.
		Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome)
		We report a mother and daughter with features of Aagenaes syndrome.
	jmg.bmjjournals.com /cgi/content/abstract/34/10/852 (116 words)

	develop
		The most frequent associations are those of brain malformations such as raquischisis, occipital meningoencephalocele, polydactilia, abnormalities of the heart and eyes and congenital hepatic fibrosis which compose the Meckel syndrome.
		Another syndrome includes Dandy-Walker malformation(cystic dilatation of the fourth ventricle and absence of the cerebellar vermis).
		It is not Caroli's’ syndrome because in Coroli’s the dilated bile ducts are not accompanied by aggressive fibrosis and there is no portal hypertension.
	www.meddean.luc.edu /lumen/MedEd/orfpath/develop.htm (2341 words)

	Aagenaes syndrome - WrongDiagnosis.com
		Aagenaes syndrome (medical condition): A rare inherited birth abnormality involving underdeveloped lymph vessels which results in swollen legs and liver problems.
		Aagenaes syndrome: an idiopathic form of familial intrahepatic cholestasis associated with lymphedema of the lower extremities.
		Aagenaes syndrome (medical condition): See Aagenaes syndrome (disease information).
	www.wrongdiagnosis.com /medical/aagenaes_syndrome.htm (283 words)

	A Dictionary of Congenital Malformations and Disorders
		As the authors explain, "Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide." This dictionary covers them all.
		Examples:Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts.Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation.
		Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits.Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, deformities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.
	www.ramex.com /title.asp?id=4824 (329 words)

	ORPHANET® : Base de données sur les maladies rares et les médicaments orphelins
		Acute myeloid leukaemia and myelodysplastic syndromes related to alkylating agent
		Acute myeloid leukaemia and myelodysplastic syndromes related to topoisomerase type II inhibitor
		APECED syndrome (Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome)
	www.orpha.net /Pat/GBA.html (304 words)

	UCSF Clinical Research Center
		1) Refinement of the genetic localization of the cholestasis-lymphedema syndrome gene, and identification of the gene and disease mutations.
		We have recently localized the gene mutated in this interesting disorder to a genetic region of several centimorgans, and are working to further refine this localization, and to identify candidate genes in the region.
		We have recently completed a screen of the genome in Amish families with this disease, and are performing follow-up studies in regions in which promising results were obtained in order to map the disease gene.
	www.gcrc.ucsf.edu /LauraBull.htm (529 words)

	edema, Primary Sclerosing Cholangitis Literature
		Crowe JP, Christensen E, Butler J, Wheeler P, Doniach D, Keenan J, Williams R 1980 Primary biliary cirrhosis: the prevalence of hypothyroidism and its relationship to thyroid autoantibodies and sicca syndrome.
		Dienes HP 2003 Histopathology of overlap syndromes in the liver.
		Drivdal M, Trydal T, Hagve TA, Bergstad I, Aagenaes O 2006 Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).
	www.psc-literature.org /edema.htm (5601 words)

	Government and academic resources on Aagenaes
		Aagenaes syndrome (Hereditary cholestasis with lyphedema.) - Paucity of
		Henriksen NT, DrablÃ¸s PA, Aagenaes Ã: Cholestatic jaundice in infancy.
		Aagenaes (1959) described a family with 31 cases in 4 generations.
	books.mongabay.com /health/conditions/Aagenaes.html (382 words)

	Alagille Syndrome -- GeneReviews -- NCBI Bookshelf
		Alagille syndrome (AGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton.
		A number of polymorphisms that are not expected to result in a disease phenotype have been reported [Krantz et al 1998, Crosnier et al 1999, Spinner et al 2001].
		Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.
	www.ncbi.nlm.nih.gov /bookshelf/br.fcgi?book=gene&part=alagille (5681 words)

	Dogs 2b Irritable Bowel Syndrome
		Colon cleansing is a natural health method for healing colon cancer, irritable bowel syndrome...
		Gurney A.W.N.Pugin Aagenaes syndrome Aaliyah Aardvark Aaron Beck Aaron...
		syndrome 2 Bargeman Bari Barite Baritosis Barium Barking dogs seldom...
	www.angelfire.com /planet/j1jlv/dogs-2b-irritable-bowel-syndrome.html (680 words)

	nutrition or diet, Primary Sclerosing Cholangitis Literature
		Anantharaju A, Baluch M, Van Thiel DH 2003 Transverse myelitis occurring in association with primary biliary cirrhosis and Sjogren's syndrome.
		Balaban DH, Chen J, Lin Z, Tribble CG, McCallum RW 1997 Median arcuate ligament syndrome: a possible cause of idiopathic gastroparesis.
		Chiarenza L, Pignataro A, Lanza V 2005 Refeeding syndrome in early pregnancy.
	www.psc-literature.org /nutinf.htm (10349 words)

	Biomedical Sciences Graduate Program \| University of California, San Francisco
		A number of interesting and unanticipated findings are emerging from this study.
		Genetic studies of lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome).
		Bull, L.N., Roche, E., Song, E.J., Pedersen, J., Knisely, A.S., van der Hagen, C.B., Eiklid, K., Aagenaes, O., Freimer, N.B. Mapping of the locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6.cM interval on chromosome 15q.
	www.ucsf.edu /bms/faculty/bull.html (672 words)

	Agyrophobia - Agyrophobia
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
		Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
		The subject of systematic classification of diseases is referred to as nosology.
	www.medicalgeo.com /Med-Diseases-Aa---Al/Agyrophobia.html (129 words)

	Taylor & Francis Online
		As the authors explain, "Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide." This dictionary covers them all.
		Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation.
		Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits.
	www.crcpress.com /shopping_cart/products/product_detail.asp?sku=PA5771&parent_id=666&pc=&af=W1126 (231 words)

	Rare Disease Terms Excel
		Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency
		Familial syndrome of aniridia and absence of the patella
		Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism
	rarediseasesinfo.aspensys.com /DiseaseTermExcel/DiseaseTermsExcel.asp (797 words)

	What is Lymphoedema
		There are many syndromes which include lymphoedema, but they are rare syndromes.
		Sharp-Aagenaes Syndrome: Distinguished by neonatal cholestasis (stoppage of bile excretion) with jaundice.
		Hennekam’s Syndrome: Lymphoedema of face, genitals, and limbs; the face and nose are flat, the mouth narrow, the chin large, the ear malformed, the eyes protruding, the fingers can be webbed, the thumb large.
	www.lymphoedema.org.au /news_let.html (7067 words)

	eMedicine - 5-Alpha-Reductase Deficiency : Article by Bruce E Wilson, MD (Site not responding. Last check: )
		Its product is expressed only in nongenital skin and liver at low levels from the time the individual is aged 3 years to puberty, at which time enzyme expression is measurable in sebaceous glands and scalp.
		Nordenskjold A, Magnus O, Aagenaes O, Knudtzon J: Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
		Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.
	www.emedicine.com /ped/topic1980.htm (4700 words)

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