Noonan syndrome - Biotech, Pharma and Life Science Channel
Noonan Syndrome and related disorders (rasopathies) are autosomal dominant congenital syndromes. These disorders are characterised by facial dysmorphism, a wide spectrum of cardiac disease, postnatal reduced growth, ectodermal and skeletal defects, and variable cognitive deficits.
Although some features are more frequently associated with particular syndromes, variable presentations make it difficult to provide a definitive clinical diagnosis. Correctly identifying the disorder is essential to ensure that appropriate care and monitoring is provided and to preclude unnecessary investigations.
PubMed Articles
SHP2/PTPN11 is a key regulator of cytokine, growth factor and integrin signaling. SHP2 influences cell survival, proliferation and differentiation by regulating major signaling pathways. Mutations in...
Abstract Objective: We investigated the prognostic relevance of ultrasound visibility of distendend jugular lymphatic sacs (JLS) in fetuses with aberrant karyotypes in First-trimester-screening. Furth...
Crossed pulmonary arteries (CPAs) are a rare abnormality in which the ostium of the left pulmonary artery originates superior to the right pulmonary artery and to its right. Recognition of this rare p...
The Application of All-Autologous Three-Sinus Repair for Supravalvular Pulmonary Stenosis.
Various surgical techniques have been proposed for the repair of supravalvular pulmonary stenosis (SVPS) in pediatric populations. Whereas growth potential should be promised, excessive expansion unde...
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.
Genetic disorders of the Ras/MAPK pathway, termed RASopathies, produce numerous abnormalities, including cutaneous keratodermas. The desmosomal cadherin, desmoglein-1 (DSG1), promotes keratinocyte dif...
Endothelial ERK signaling controls lymphatic fate specification.
Lymphatic vessels are thought to arise from PROX1-positive endothelial cells (ECs) in the cardinal vein in response to induction of SOX18 expression; however, the molecular event responsible for incre...
OBJECTIVE: Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that va...
Prenatal features of Noonan syndrome: prevalence and prognostic value.
OBJECTIVE: Noonan syndrome (NS) is a common autosomal dominant developmental disorder, mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. We...
Affective functioning and social cognition in Noonan syndrome.
BACKGROUND: Noonan syndrome (NS) is a common genetic disorder, characterized by short stature, facial dysmorphia, congenital heart defects and a mildly lowered IQ. Impairments in psychosocial function...
OBJECTIVE: To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing. METHODS: We searched our Fetal Medicine Unit records for all cases with a...
News Articles
Phoenix Houses of California honored Leigh Steinberg, the prominent sports agent whose successful career inspired the film Jerry Maguire, and David E.I. Pyott, chairman of the board, president and CEO...
Older Fathers More Likely To Pass On Genetic Mutation To Their Children
Genetic mutation of a testis stem cell actually gives the disease an edge, making older fathers more likely to pass it along to their children Scientists at USC have unlocked the mystery of why new ca...
USC scientists unlock mystery of why new cases of Noonan Syndrome are so common
Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's pro...
Father's age affects offspring
(Medical Xpress)—In a new paper, USC Dornsife molecular and computational biologists Norman Arnheim and Peter Calabrese and their team found that the longer a man waits to have children, the greater...
Common genetic disease linked to father's age
(University of Southern California) Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan syndrome are so common; a mutation that causes the disease disproportiona...
SAN FRANCISCO, June 3, 2013 /PRNewswire/ -- Nektar Therapeutics (NASDAQ:NKTR) announced positive preclinical data for NKTR-214, an investigational cancer immunotherapy which targets the IL-2 receptor...
Noonan Syndrome Helped Long Term by Growth Hormone (CME/CE)
WASHINGTON (MedPage Today) -- Children with the genetic disorder Noonan syndrome, characterized by short stature and organ abnormalities, had a more lasting response to growth hormone therapy than did...
GlobeImmune to Present at 12th Annual Needham Healthcare Conference
LOUISVILLE, Colo., April 18, 2013 - GlobeImmune, Inc., today announced that Timothy C. Rodell, M.D., president and chief executive officer of GlobeImmune, will present at the 12th Annual Needham Heal...
Resverlogix Completes Dosing In ASSURE Clinical Trial
IVUS data will evaluate plaque regression in patients with high-risk Cardiovascular Disease TSX Exchange Symbol: RVX CALGARY, April 18, 2013 /PRNewswire/ - Resverlogix Corp. (TSX:RVX) today an...
PBS Newshour Covers Myriad v. AMP Oral Arguments with The Supremes
Here's video of from the PBS Newshour discussing the oral arguments presented before the Supreme court yesterday in the Myriad v. AMP "gene patent" case. The link to the newshour comes courtesy of the...
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Clinical Trials
Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome
1. Clinical Objective : To improve the growth of these children 2. Genetic objective : A study of the genetics of the syndrome
The trial will investigate the treatment of growth failure in children with Noonan syndrome. Abnormalities in the growth hormone (GH) – insulin-like growth factor-I (IGF-I) axis resultin...
Videos
Dominic Noonan spotted at Manchester Riots Oldham Street 2011
Thugs in action.
Medical and Biotech [MESH] Definitions
Leopard Syndrome
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Protein Tyrosine Phosphatase, Non-receptor Type 11
A subtype of non-receptor protein tyrosine phosphatases that contain two SRC HOMOLOGY DOMAINS. Mutations in the gene for protein tyrosine phosphatase, non-receptor type 11 are associated with NOONAN SYNDROME.
Costello Syndrome
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Turner Syndrome
A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO), associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads, sexual infantilism (HYPOGONADISM), webbing of the neck, cubitus valgus, elevated GONADOTROPINS and decreased ESTRADIOL level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION. NOONAN SYNDROME bears similarity to this disorder; however, it also occurs in males, has normal karyotype, and is inherited as an autosomal dominant.
Neurofibromatosis 1
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
