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Nail Patella Syndrome: more detail

Nail Patella Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-04-30

Gale Encyclopedia of Medicine: Nail-patella syndrome by Judy C. Hawkins MS, 2002-01-01

Nail-Patella Syndrome: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by John, PhD Lohr, Judy, MS Hawkins, 2006

Nail-Patella Syndrome

Nail-patella syndrome: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by John Lohr, Judy, MS Hawkins, 2005

Nail-patella syndrome: An entry from Thomson Gale's Gale Encyclopedia of Children's Health: Infancy through Adolescence by Judith, MS Sims, John, PhD Lohr, et all 2006

81. Nail-Patella Syndrome Page
The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set.
http://www.h4.dion.ne.jp/~fiat500/NPS/NPS.html
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82. ScienceDaily News Release: Gene Responsible For Nail-Patella Syndrome Found
Mutations in LMX1B can cause nailpatella syndrome, which can also result in glaucomaand kidney failure. Gene Responsible For nail-patella syndrome Found.
http://www.sciencedaily.com/releases/1998/04/980429123420.htm
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Gene Responsible For Nail-Patella Syndrome Found
The gene responsible for a rare condition causing abnormal fingernails and the lack of kneecaps has been identified by researchers at Baylor College of Medicine and the M.D. Anderson Cancer Center, Houston. Mutations in LMX1B can cause nail-patella syndrome, which can also result in glaucoma and kidney failure. The study was presented at the annual meeting of the Pediatric Academic Societies in New Orleans, May 1-5. For interviews during the meeting, contact the press room at (504) 670-8502 or 670-8508. Researchers Institutional Contact: B.J. Almond (713) 798-4712 Note : This story has been adapted from a news release issued for journalists and other members of the public. If you wish to quote any part of this story, please credit

83. Nail-patella Syndrome - General Practice Notebook
medical information from General Practice Notebook. nailpatella syndrome.This is congenital nail disorder with an autosomal dominant
http://www.gpnotebook.co.uk/cache/-1389035487.htm
nail-patella syndrome This is congenital nail disorder with an autosomal dominant inheritance in which the patellae and some of the nails, usually those of the thumb, are rudimentary or absent. The iliac spines may also be underdeveloped.
Click here for more information...

84. Science News Online (7/4/98): Mice Help Nail Down Gene For Rare Syndrome
Studies of mutant mice have led to the identification of the gene responsible fora rare human disorder called nailpatella syndrome(NPS), a puzzling human
http://www.sciencenews.org/sn_arc98/7_4_98/Fob3.htm
July 4 Mice help nail down gene for rare syndrome By J. Travis R andy L. Johnson is interested in how limbs form, so he wondered what would happen if mice lacked a gene related to one implicated in the development of chicken limbs. Much to Johnson's surprise, his studies of such mutant mice have led to the identification of the gene responsible for a rare human disorder called nail-patella syndrome (NPS). For more than a century, physicians have recognized this curious syndrome in which people have, to varying degrees, abnormal growth of fingernails, toenails, and knee caps, or patellae. At the extreme, people with NPS have no knee caps or nails whatsoever. Some 50 years ago, physicians linked kidney problems, often severe enough to require transplants, to the syndrome. Last year, investigators also noticed that people with the syndrome frequently have the eye disorder glaucoma. Scientists have been puzzled by this odd collection of symptoms and have even pondered whether more than one gene must be involved. At the Society for Developmental Biology meeting last week in Palo Alto, Calif., Johnson, who works at the University of Texas M.D. Anderson Cancer Center in Houston, explained how the findings on his mutant mice strongly indicate that a single gene is behind NPS. Some of his team's results are also described in the May Nature Genetics To create the mutant animals, the scientists deactivated both copies of a mouse gene called Lmx1b. It encodes a transcription factor, a DNA-binding protein regulating the activity of genes. The resulting mice, which survive less than a day after birth, lack patellae and nails. Further examination revealed kidney abnormalities as well.

85. Gene Linked To Inherited Glaucoma
The same gene, called LMX1B, is responsible for a rare inherited diseasecalled nailpatella syndrome, the researchers found. People
http://mednews.stanford.edu/news_releases_html/1998/junreleases/glaucoma.html
MEDIA CONTACT: Rosanne Spector, (650) 723-6911 (manishma@leland.stanford.edu)
BROADCAST MEDIA: M.A. Malone, (650) 723-6912 (mamalone@leland.stanford.edu)
FOR COMMENT: Dr. Douglas Vollrath, 650-723-3290 (vollrath@genome.stanford.edu)
Gene linked to inherited glaucoma STANFORD Scientists at Stanford University and the University of Michigan have identified a gene involved in some cases of inherited glaucoma. The same gene, called LMX1B, is responsible for a rare inherited disease called nail-patella syndrome, the researchers found.
People with nail-patella syndrome have malformed fingernails, toenails, kneecaps and elbows. A significant number of them also have glaucoma. The new findings confirm the researchers' earlier proposal that the two sets of symptoms in these patients spring from the same genetic defect.
Glaucoma is the second leading cause of blindness worldwide. In the United States it affects more than 2.5 million people, half of whom do not know they have the disease. Increased pressure in the eye is thought to destroy nerve cells in the eye, leading to glaucoma's characteristic patterns of vision loss.
Although it appears that no single gene defect is responsible for most cases of glaucoma, scientists suspect that the disease usually is spurred by genetic components in addition to environmental effects.

86. Nail-Patella Syndrome | Horizon Health And Wellness
Patientswho have nail-patella syndrome show a variety of physical defects....... Health AZ nailpatella syndrome. nail-patella syndrome.
http://bcbsnj.myhealthyhorizon.com/topic/topic100587197
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Nail-patella syndrome
Lohr, John Thomas
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Definition
Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. There are also other effects, such as thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma.

87. Congenital, Hereditary, And Neonatal Diseases And Abnormalities
Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... CHARGE syndrome Foundation, Inc. (US). nail-patella syndrome nail-patellasyndrome and Glaucoma - Kellogg Eye Center; nail-patella
http://www.mic.ki.se/Diseases/c16.html
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88. Nail-patella Syndrome
. Patients who havenail-patella syndrome show a variety of physical defects. Among......nailpatella syndrome. Definition nail
http://www.chclibrary.org/micromed/00057730.html

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Nail-patella syndrome
Definition
Nail-patella syndrome, also known as onychoosteodysplasia, is a disease of the connective tissue that produces defects in the fingernails, bone joints, and kidneys. Description
Patients who have nail-patella syndrome show a variety of physical defects. Among these are missing or poorly developed fingernails and patellae (kneecaps), a dislocated radius (one of the forearm bones) at the elbow, or an abnormally shaped pelvis bone (hip bone). Kidney (renal) disease is also seen. There are also other effects, such as thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. The irises of the eye may have more than one color present. The eyes may also have cataracts and astigmatism
Nail-patella syndrome is a rare genetic disease. The genetic mutation is an autosomal dominant mutation. This means that possession of only one copy of the defective gene is enough to cause disease. The defect has been mapped to chromosome 9 and may be related to the gene that codes for type 5 collagen. Some patients with this disease show no symptoms and are discovered to have the disease only when genetic studies trace family histories. The fingernails of these patients are usually poorly developed or missing. The index fingers and thumb are most commonly affected by this disease. Fingernails that are present may be small and concave and have pitting, ridges, splits, and discoloration. Effects are rarely seen on the toes. Either or both kneecaps may be missing. Abnormally formed kneecaps can take a variety of shapes. Since the kneecap stabilizes the knee, patients may have difficulty walking. The iliac crest of the hip bone usually has a pronounced flaring called iliac horns. Kidney disease may be present. Biopsy shows lesions that resemble those of inflammation of the clusters of capillaries in the kidneys (

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91. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders
the entire directory. Top Health Conditions and Diseases Genetic Disorders NailPatella syndrome (7). Sites
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Sites:
Nail Patella Syndrome Worldwide *Cool Site* - The home page of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. Includes information on the syndrome and the work of the organization.
David's NPS Page - A British page written by a spouse and parent of Nail Patella syndrome patients, giving a brief description of the syndrome and some links to further information.
John Hopkins Medical Institution - NPS - Information about nail patella syndrome, what it is, a look at the gene, and links to resources and support groups.
Medstudents - A review about nail-patella syndrome, including the genetics, incidence, pathophysiology, signs and symptoms, and prognosis.
Nail Patella Syndrome - A patient-written site offering relevant medical information, photos, x-rays, discussion/support group, links to research and guest books where over 350 people have told their NPS stories.
Readers Digest Health - A general discussion about nail-patella syndrome, including its alternate names.

92. Record - April 26, 2002
properly. The mutation causes a rare disorder known as nailpatellasyndrome, which frequently involves kidney abnormalities. This
http://record.wustl.edu/2002/04-26-02/mutation.html

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Gene mutation influences filtering of blood by kidneys
By Darrell E. Ward
School of Medicine researchers have uncovered new information about a gene that when mutated prevents the kidneys from filtering properly. The mutation causes a rare disorder known as nail-patella syndrome, which frequently involves kidney abnormalities. "This gene, known as regulates production of other proteins that are required for normal kidney function," said Jeffrey H. Miner, Ph.D., assistant professor of medicine and of cell biology and physiology and lead author of the paper. "Our findings should improve the understanding of nail-patella syndrome and of kidney function and failure." The findings appeared in the April 15 issue of The Journal of Clinical Investigation Using mice, the study found that mutations in the

93. Ooh! The NPS Page Has Moved!
My blog. Required reading if sombody else is paying.
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Has moved permanently to http://www.house9design.com/nps You should get there in about 5 seconds.

94. Classic Manifestations
Main Create Edit Help
http://www.hometown.aol.com/PACALI/npspage.html
htmlAdWH('7008222', '120', '30'); htmlAdWH('7004796', '234', '60'); Main Create Edit Help Providing reliable NPS information, networking and support since September 1995! Nail Patella Syndrome A Thumbs Up (TM) Look At NPS My name is Carol Ferensak. (e-mail: PACALI@aol.com ) and I have a rare congenital disorder called Nail Patella Syndrome.It is very dominant in the maternal side of my family, with about 50% of us having it. I have recently located some distant relatives with NPS and by combining my genealogy with theirs, I have been able to trace the NPS in our family back as far as the 1600s! I began researching Nail Patella Syndrome in Sept '96, and in the process of searching for information I have located quite a few other people that also have it. In talking with each other we have found that although our symptoms vary tremendously, we have much in common. Before we found each other, most of us had never heard of anyone else that had it except our own families! (And some, called spontaneous mutations, don't even have other family members with it!) So, it was really exciting to find others...to share our stories, our problems, our concerns and personal

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Gene Responsible For Nail-Patella Syndrome Found

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

(including Pediatrics)

Search PubMed at NCBI/NLM

Nail-patella syndrome

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