1. Cowden Syndrome A CHORUS notecard document about this syndrome.Category Health Conditions and Diseases cowden syndrome......cowden syndrome. multiple hamartoma syndrome GItract hamartomas (incl.stomach and colon). breast Ca; thyroid Ca. circumoral papillomatosis; http://chorus.rad.mcw.edu/doc/00100.html

CHORUS Collaborative Hypertext of Radiology Colon Feedback Search Cowden syndrome "multiple hamartoma syndrome" GI-tract hamartomas (incl. stomach and colon) breast Ca thyroid Ca circumoral papillomatosis nodular gingival hyperplasia See also: polyposis syndromes Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

2. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Diseases / Genetic Disorders / cowden syndrome (3). cowden syndrome A CHORUS notecard document about this syndrome. http://www.1uphealth.com/links/genetic-disorders-cowden-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Cowden Syndrome Description See Related Categories Health: Conditions and Diseases: Rare Disorders Sites Cowden Syndrome A CHORUS notecard document about this syndrome. Cowdens Syndrome Support Group Offers information and message boards for families and patients affected by the disease. Emergency Medicine A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

3. Colon - CHORUS colonic diverticulosis; colonic narrowing; cowden syndrome; Crohn diseasevs ulcerative colitis; CronkhiteCanada syndrome; diverticular http://chorus.rad.mcw.edu/index/45.html

CHORUS Collaborative Hypertext of Radiology Gastrointestinal system Search by title Colon adenomatous colon polyps angiodysplasia cecal volvulus Chilaiditi syndrome ... ulcerative colitis Charles E. Kahn, Jr., MD, Editor 1 January 2003 Medical College of Wisconsin

4. Virtual Children's Hospital: Cowden Syndrome: A Guide For Patients And Their Fam This booklet, from UI Hospitals and Clinics, supplements information providedby members of your health care team about cowden syndrome. http://www.vh.org/pediatric/patient/cancercenter/cowden/

Cowden Syndrome: A Guide for patients and their families Sarah Burton, UI Health Care Joy Larsen Haidle, M.S., C.G.C., UI Health Care Heather Hampel, M.S., C.G.C., Ohio State University Charis Eng, M.D., Ph.D., Ohio State University Peer Review Status: Internally reviewed by the authors First Published: Last Revised: April 2002 Table of Contents Introduction This booklet supplements information provided by physicians, nurses, genetic counselors, and other members of your health care team about Cowden syndrome. It does not replace regular medical care or discussions with your physician and health care team. If you see a an unfamiliar term, please consult the Glossary at the end of this booklet. That's Not the Name My Doctor Gave Me What is Cowden Syndrome? Common Characteristics of Cowden Syndrome How is Cowden Syndrome Diagnosed? ... References and Credits See related Patient Textbooks about Cancer Center or Pediatrics See related Patient Topics Cancer Center Digestive DiseasesGeneral Digestive System Genetics or Pediatrics See related Provider Textbooks about or Pediatrics See related Provider Topics Digestive DiseasesGeneral Digestive System Genetics or Pediatrics Virtual Hospital Home Virtual Children's Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/patient/cancercenter/cowden/index.html

5. Service Page - Pathologie Information D I S E A S E cowden syndrome. Synonym(s) http://orphanet.infobiogen.fr/Site/Exp.stm?Lng=GB&Expert=201

6. Virtual Children's Hospital: Cancer: Cowden Syndrome cowden syndrome A Guide for patients and their families How is cowden syndrome Diagnosed? Physiciansdiagnose cowden syndrome using a combination of criteria. http://www.vh.org/pediatric/patient/cancercenter/cowden/diagnosis.html

Cowden Syndrome A Guide for patients and their families How is Cowden Syndrome Diagnosed? Sarah Burton, UI Health Care Joy Larsen Haidle, M.S., C.G.C., UI Health Care Heather Hampel, M.S., C.G.C., Ohio State University Charis Eng, M.D., Ph.D., Ohio State University Peer Review Status: Internally reviewed by the authors First Published: Last Revised: April 2002 The Category Breakdown: Pathognomonic criteria Mucocutaneous lesions Facial trichilemmonas Acral keratoses Papillomatous lesions Mucosal lesions Major criteria Breast cancer Thyroid cancer Macrocephaly Lhermitte-Duclos disease Endometrial carcinomas Minor criteria Other thyroid diseases Mental retardation Gastrointestinal hamartomas and tumors Fibrocystic Breast Disease Lipomas Fibromas * International Cowden's Syndrome Consortium. Operational Criteria for the Diagnosis of CS. Daly, M. NCCN practice guidelines: Genetics/familial high-risk cancer screening. Oncology 1999:13:161-86 * Eng, C., Peacocke M. PTEN and inherited hamartoma cancer syndromes. Nat Genet 1998: 19-233 * Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000:37:828-830

7. Virtual Children's Hospital: Cowden Syndrome: A Guide For Patients And Their Fam This booklet, from UI Hospitals and Clinics, supplements information provided by members of your health care team about cowden syndrome. http://www.vh.org/Patients/IHB/Cancer/Cowden/Index.html

Cowden Syndrome: A Guide for patients and their families Sarah Burton, UI Health Care Joy Larsen Haidle, M.S., C.G.C., UI Health Care Heather Hampel, M.S., C.G.C., Ohio State University Charis Eng, M.D., Ph.D., Ohio State University Peer Review Status: Internally reviewed by the authors First Published: Last Revised: April 2002 Table of Contents Introduction This booklet supplements information provided by physicians, nurses, genetic counselors, and other members of your health care team about Cowden syndrome. It does not replace regular medical care or discussions with your physician and health care team. If you see a an unfamiliar term, please consult the Glossary at the end of this booklet. That's Not the Name My Doctor Gave Me What is Cowden Syndrome? Common Characteristics of Cowden Syndrome How is Cowden Syndrome Diagnosed? ... References and Credits See related Patient Textbooks about Cancer Center or Pediatrics See related Patient Topics Cancer Center Digestive DiseasesGeneral Digestive System Genetics or Pediatrics See related Provider Textbooks about or Pediatrics See related Provider Topics Digestive DiseasesGeneral Digestive System Genetics or Pediatrics Virtual Hospital Home Virtual Children's Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/patient/cancercenter/cowden/index.html

8. Google Directory - Health > Conditions And Diseases > Genetic Disorders > Cowden Search only in cowden syndrome Search the Web. cowden syndrome http://directory.google.ch/Top/Health/Conditions_and_Diseases/Genetic_Disorders/

Directory Help Search only in Cowden Syndrome Search the Web Cowden Syndrome Health Conditions and Diseases Genetic Disorders Go to Directory Home Related Category: Web Pages Viewing in Google PageRank order View in alphabetical order Cowden Syndrome http://chorus.rad.mcw.edu/doc/00100.html A CHORUS notecard document about this syndrome. Emergency Medicine http://emedicine.com/DERM/topic86.htm A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up. Cowdens Syndrome Support Group http://communities.msn.com/cowdenssyndrome Offers information and message boards for families and patients affected by the disease. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Advertise with Us

9. Entrez-PubMed The cowden syndrome a clinical and genetic study in 21 patients. Starink TM,van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW. http://www.biomedcentral.com/pubmed/3698331

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order Clin Genet 1986 Mar;29(3):222-33 Related Articles, Links The Cowden syndrome: a clinical and genetic study in 21 patients. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW. PMID: 3698331 [PubMed - indexed for MEDLINE] Summary Brief Abstract Citation ASN.1

10. Entrez-PubMed Genetics of cowden syndrome through the looking glass of oncology.Eng C. Translational Research Laboratory, Department of Adult http://www.biomedcentral.com/pubmed/9472113

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order Int J Oncol 1998 Mar;12(3):701-10 Related Articles, Links Genetics of Cowden syndrome: through the looking glass of oncology. Eng C. Translational Research Laboratory, Department of Adult Oncology, Dana-Farber Cancer Institute, 1 Jimmy Fund Way, SM822, Boston, MA 02115-6084, USA. Cowden syndrome (CS) is an autosomal dominant inherited syndrome characterised by hamartoma development in multiple organs and a risk of breast, thyroid and other cancers. The susceptibility gene for this syndrome was mapped to 10q22-23. Subsequently, germline mutations in PTEN, which encodes a dual specificity phosphatase, were found in individuals and families with CS. With the identification of the CS susceptibility gene, DNA-based predictive testing may be offered in theory. Somatic mutations in PTEN have been described in sporadic thyroid tumors, endometrial carcinomas, prostate carcinomas and glioblastoma multiforme. Although initial analyses suggest that the presence of somatic PTEN alterations appear to be associated with more advanced disease in carcinomas of the prostate and brain, this does not appear to be the case in epithelial thyroid tumors.

11. Kprones CowdenID10018 Bibliography. Cowden's disease a possible new syndrome with multiple system involvement. Thecowden syndrome a clinical and genetic study in 21 patients. http://www.infobiogen.fr/services/chromcancer/Kprones/CowdenID10018.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Cowden Disease Identity Other names Multiple hamartoma syndrome Inheritance autosomal dominant; high penetrance (close to 100% by the age of 30 yrs); highly variable expressivity (between and within families) Clinics Phenotype and clinics clinical manifestations usually occur during the 2nd and 3rd decade; they are dystrophic, hamartomatous or tumoral lesions including the following to variable extend: - mucocutaneous papillomatous lesions (facial papules, sometimes related to trichilemmoma; oral papillomatosis with cobblestone gingiva; acral keratoses) - both dystrophic and adenomatous multinodular goiter - intestinal tract polyps with variable histologies - adenosis and fibrocystic disease of the breast - macrocephaly - lipomas - genito-urinary abnormalities Overlapping syndromes Bannayan-Riley-Ruvalcaba syndrome including precocious stigmata of Cowden disease (macrocephaly, lipomas, genital pigmented macules, hamartomatous intestinal tract polyps) is considered as a pediatric form of Cowden disease Lhermitte Duclos syndrome or dysplastic gangliocytoma of the cerebelum is a rare and complex hamartomatous condition of the cerebellum which can occur alone but also in association with Cowden disease juvenile polyposis and Peutz Jeghers syndrome : Cowden disease, by its intestinal tract lesions can be linked to the scope of hereditary hamartomatous polyposis; molecular diagnosis can be useful in distinguishing juvenile polyposis, Peutz Jeghers syndrome or Cowden disease/Bannayan

12. Kprones FamilNervousCanID10067 syndrome; Von HippelLindau syndrome; Li-Fraumeni syndrome; Gorlinsyndrome; cowden syndrome. Clinics. Neoplastic risk, Neufibromatosis http://www.infobiogen.fr/services/chromcancer/Kprones/FamilNervousCanID10067.htm

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Familial nervous system tumour syndromes Identity Inheritance eight genetic syndromes are associated with nervous system tumours; these are: Neufibromatosis 1 (NF1) Neufibromatosis 2 (NF2) Tuberous sclerosis Turcot syndrome Von Hippel-Lindau syndrome Li-Fraumeni syndrome Gorlin syndrome Cowden syndrome Clinics Neoplastic risk Neufibromatosis 1 (NF1): Nervous System Tumors Neurofibromas, Astrocytomas , Optic nerve gliomas Other tumors Pheochromocytoma , Osseous lesions, Iris hamartomas Genes located in 17q11 Neufibromatosis 2 (NF2): Nervous System Tumors Schwanomas, Meningiomas Spinal ependymomas Astrocytomas Other tumors Retinal hamartoma Genes located in 22q12 Tuberous sclerosis: Nervous System Tumors Astrocytomas , Subependymal giant cell tumors Other tumors Cutaneous angio-fibroma, Cardiac rhabdomyomas, Adenomatous polyps of duodenum, Renal hamartomatous tumors, Cysts of the lung and kidney. Genes and located in 9q34 and 16p13 respectively Turcot syndrome: Nervous System Tumors Medulloblastomas Glioblastomas Other tumors Colorectal polyps Genes APC , hMLh1 and hPMS2 located in 5q21, 3p21, and 7p22 respectively Von Hippel-Lindau syndrome: Nervous System Tumors Hemangioblastomas Other tumors Retinal hemangioblastomas, Renal cell carcinoma, Pheochromocytoma

13. Uveitis And Glaucoma In Cowden Syndrome Uveitis and Glaucoma in cowden syndrome. Therapeutical challenge. Margherita E.Meniconi. Intraocular pressure was 19mmHg. cowden syndrome (CS). Introduction. http://www.uveitis.org/Enhanced/MD_info/md_Cowden_sy.htm

Uveitis and Glaucoma in Cowden Syndrome. Therapeutical challenge. Margherita E. Meniconi Introduction Case presentation A caucasian female, age 22, was referred for recommendations for treatment of uveitic glaucoma in her remaining right eye. Her past ocular history was significant for bilateral uveitis at age 4, complicated by retinal detachment OS and OS phthisis. Her right eye needed surgical excision of a vitreo-retinal traction band. After a period of stability, retinal detachment developed in the right eye and was successfully treated with pars plana vitrectomy and scleral buckling at age 13 years. Secondary cataract developed, requiring cataract extraction. Best-corrected vision at age 14 was 20/40. The intraocular pressure was normal until age 17. Glaucoma then developed, and the pressure was around 29 mmHg, despite therapy with dorzolamide, timolol, brimodine and latanaprost. The review of system was significant for status post pneumonia at age 16 and status post thyroidectomy two years earlier and recent diagnosis of Cowden Syndrome. At the time of consultation with us, the patient’s best-corrected vision in OD was 20/30, pinhole 20/25; OS no light perception. The intraocular pressures were 19mmHg OD and 6mmHg OS.

14. Uveitis And Glaucoma In Cowden Syndrome Uveitis and Glaucoma in cowden syndrome. Margherita E. Meniconi, MD. 1 Definitionof hamartoma is. 3 The onset of cowden syndrome. a) can be at various ages. http://www.uveitis.org/Enhanced/Review/rev_Cowden_sy.htm

Uveitis and Glaucoma in Cowden Syndrome. Margherita E. Meniconi, M.D. Definition of hamartoma is a) proliferation of immature cells at a place they usually occur b) proliferation of immature cells at an ectopic place c) proliferation of mature cells at a place they usually occur d) proliferation of mature cells at an ectopic place The clinical manifestation of genetic transmitted diseases is most severe a) in autosomal dominant transmitted diseases b) in autosomal recessive transmitted diseases c) in non-autosomal transmitted diseases The onset of Cowden Syndrome a) can be at various ages b) is always at small ages c) is always at adulthood Cowden Syndrome – major diagnostic criteria include Mark + or – for each line a) Fibrocystic disease of the breast b) Carcinoma of the breast c) Head circumference on 95 percentile d) Slowly progressive cerebellar ataxia e) Goiter f) Cancer of thyroid Is Cowden disease usually diagnosed with a genetic test? a) yes, because the gene involved is specific and pathognomic of the disease b) no, because the gene involved is not pathognomic of the disease

15. Cowdens Syndrome Offers information and message boards for families and patients affected by the disease.Category Health Conditions and Diseases cowden syndrome......COWDENS SYNDROME BANNAYANRILEY-RUVALCABA SYNDROME FOUNDATION. Thisweb site has been formed to provide communication between patients http://communities.msn.com/cowdenssyndrome

MSN Home My MSN Hotmail Search ... Money Groups Cowdens Syndrome cowdenssyndrome@groups.msn.com Groups Home My Groups Language Help ... Tools This web site has been formed to provide communication between patients and family members of rare genetic diseases Cowdens Syndrome and Bannayan Riley Ruvalcaba Syndrome both caused by mutations of the PTEN gene To join this group you must have Cowdens Syndrome or Bannayan Riley Ruvalcaba syndrome or be a family member to someone with one of these diseases. We also welcome medical professionals. This group has medical advisors which are the premier researchers in both diseases, we very often will get doctor names or answer specific questions. We can also get articles or information for you to give to doctors. Our researchers are currently conduting studies in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. For details on the study please read our "Special Notice" section. This group is intended to work along side with your doctor, not to take the place of one. Please confirm all information you hear at this site with your doctor. If you are not interested in being a member, but just need information on the syndromes please write to the webmaster at

16. Cowden Syndrome Background. cowden syndrome (CS) is a autosomal dominant inherited syndrome. Cowdensyndrome and LhermitteDuclos disease, Cancer 1992;70869-76. http://www.thedoctorsdoctor.com/diseases/cowdensyndrome.htm

Background Cowden syndrome (CS) is a autosomal dominant inherited syndrome. These patients are characterized by multiple hamartomas occurring in the skin, breast, thyroid, gastrointestinal tract, endometrium, and brain. Patients do have an increased risk of experiencing malignant tumors with the most common ones are breast, endometrial, and thyroid cancer. SYNONYMS Multiple hamartoma syndrome PATHOGENESIS CHARACTERIZATION Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome J Am Acad Dermatol 2001;44:183-7 Single kindred with individuals manifesting both CS and BZS phenotypes (CS/BZS overlap family) Novel mutation in PTEN by DNA sequencing. The PTEN gene (phosphatase and tensin homolog deleted from chromosome 10) has been identified as the susceptibility gene for CS and BZS Also known as MMAC1 (mutated in multiple advanced cancers) or TEP1 (TGF-regulated and e pithelial cell-enriched p hosphatase), is a tumor suppressor gene located on chromosome 10q23.28-30 It has 9 exons that encode a protein of 403 amino acids. The presence of individuals with CS and BZS within the same family, and moreover the identification of identical PTEN gene mutations in these individuals, suggest that these two syndromes represent different phenotypic expressions of one disease

17. ORPHANET® : Cowden Syndrome Translate this page ORPHANET. ORPHANET database access. cowden syndrome. Direct accessto details Alias Multiple hamartoma syndrome. Home Page. http://www.orpha.net/static/GB/cowden.html

ORPHANET database access Cowden syndrome Direct access to details Alias : Home Page

18. EMedicine - Cowden Disease (Multiple Hamartoma Syndrome) : Article By Charles Mi A introduction of Cowden disease followed by an in depth report, including treatment, medication and Category Health Conditions and Diseases cowden syndrome......Cowden Disease (Multiple Hamartoma Syndrome) Cowden disease (CD), also termedcowden syndrome and multiple hamartoma syndrome, is an autosomal dominant http://www.emedicine.com/DERM/topic86.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Internal Medicine Cowden Disease (Multiple Hamartoma Syndrome) Last Updated: July 10, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: multiple hamartoma syndrome, Cowden syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Charles Miller, MD , Dermatologist, Department of Dermatology, Southern California Kaiser Permanente Charles Miller, MD, is a member of the following medical societies: American Academy of Dermatology Editor(s): Craig A Elmets, MD , Director of Dermatology, Departments of Dermatology, Professor, Pathology, Environmental Health Sciences, The Kirklin Clinic, University of Alabama at Birmingham; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Lester Libow, MD , Chief of Dermatopathology, Departments of Dermatology and Pathology, Brooke Army Medical Center;

19. EMedicine - Trichilemmoma : Article By William P Baugh, MD However, if multiple lesions exist on the face, trichilemmomas associated withcowden syndrome may be suspected. Family history of cowden syndrome http://www.emedicine.com/DERM/topic428.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Benign Neoplasms Trichilemmoma Last Updated: June 25, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: tricholemmoma AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: William P Baugh, MD , Head, Department of Dermatology, Naval Medical Center at Beaufort Coauthor(s): David Barnette, Jr, MD , Chief of Dermatopathology, Departments of Internal Medicine and Dermatology, Naval Medical Center at San Diego; James Kerr, MD , Head, Department of Dermatology,, Naval Medical Center at San Diego; Professor, Department of Medicine, Division of Dermatology, University of California at San Diego William P Baugh, MD, is a member of the following medical societies: American Academy of Dermatology , and Editor(s): David P Fivenson, MD , Director of Clinical Research, Immunodermatology Service and Wound Care Programs, Department of Dermatology, Henry Ford Health System;

20. Lhermitte-Duclos Disease December 2001 features a mouse model of the human LhermitteDuclos Disease, acomponent of cowden syndrome characterized by hamartomas of the brain and http://tbase.jax.org/docs/Pten.html

Current Feature in TBASE by Anna V. Anagnostopoulos DECEMBER 2001 Pten loxP/loxP Gfap-cre mice: A Mouse Model of Lhermitte-Duclos Disease Other names for PTEN (phosphatase and tensin homolog) Bannayan-Zonana syndrome (BZS); Multiple Hamartoma (MHAM, Cowden syndrome); Mutated in Multiple Advanced Cancers 1 TGFb regulated and Epithelial cell enriched Phosphatase 1 (TEP1) Other names for Lhermitte-Duclos Disease COWDEN SYNDROME; CS MULTIPLE HAMARTOMA SYNDROME; MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD VI, INCLUDED CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED December 2001 features a mouse model of the human Lhermitte-Duclos Disease , a component of Cowden syndrome characterized by hamartomas of the brain and overgrowth of hypertrophied granule cells in the cerebellum. PTEN mutations have been found in the autosomal dominant harmatoma syndromes Cowden disease and Bannayan-Riley-Ruvalcaba syndrome , which are believed to constitute a single syndrome. In man, clinical features of

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 93    1  | 2  | 3  | 4  | 5  | Next 20