Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)

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106 relevant articles (2 outcomes, 5 trials/studies) found for this Disease

Description: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.

Also Known As:

Exomphalos Macroglossia Gigantism Syndrome; Syndrome, Exomphalos-Macroglossia-Gigantism; Wiedemann-Beckwith Syndrome; Beckwith Wiedemann Syndrome; Syndrome, Beckwith-Wiedemann; Syndrome, Wiedemann-Beckwith; Wiedemann Beckwith Syndrome; Exomphalos-Macroglossia-Gigantism Syndrome

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 420

Congenital Abnormalities: 9308

Multiple Abnormalities: 120

Beckwith-Wiedemann Syndrome: 106

Chromosome Disorders: 62

Beckwith-Wiedemann Syndrome: 106

Inborn Genetic Diseases: 548

Chromosome Disorders: 62

Beckwith-Wiedemann Syndrome: 106

Related Diseases

1.	Neoplasms (Cancer)
2.	Wilms Tumor (Wilm's Tumor)
3.	Neoplasm Metastasis (Metastasis)
4.	Adrenal Cortex Neoplasms (Adrenocortical Cancer)
5.	Syndrome
60 Diseases and 73 more articles analyzed in the Research Interface, order at left...

Experts

1.	Eggermann, Katja: 1 article (04/2008)
2.	Schönherr, Nadine: 1 article (04/2008)
3.	Eggermann, Thomas: 1 article (04/2008)
4.	Reyes-Múgica, Miguel: 1 article (05/2007)
5.	Zambrano, Eduardo: 1 article (05/2007)
6.	Sarita-Reyes, Carmen: 1 article (05/2007)
7.	Cajaiba, Mariana M: 1 article (05/2007)
8.	Goldenberg, Jacob A: 1 article (08/2005)
9.	Ortmeier, Thomas C: 1 article (08/2005)
10.	Kobrinsky, Nathan L: 1 article (08/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Beckwith-Wiedemann Syndrome:

1.	Insulin (Novolin)FDA Link 08/01/1994 - "Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome." 10/01/1993 - "Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome." 06/01/2004 - "Several specific defects linked to the insulin-like growth factor system were elucidated for a group of these disorders, including Simpson-Golabi-Behmel syndrome, Bannayan-Ruvalcaba-Riley syndrome and Beckwith-Wiedemann syndrome" 05/15/2000 - "BACKGROUND: Loss of imprinting (LOI) of insulin-like growth factor-2 (IGF-2) has been implicated in the pathogenesis of certain human cancers and tumor-predisposing overgrowth disorders, such as Beckwith-Wiedemann syndrome" 04/01/1995 - "Observations in the Beckwith-Wiedemann syndrome suggest that sympathetic embryonal cells with an abundant expression of the insulin-like growth factor 2 gene (IGF2) may be involved in the genesis of low-malignant infant neuroblastomas" Get all the results and reference details, order at left...
2.	Insulin-Like Growth Factor II (Somatomedin A)IBA 05/01/1993 - "In an attempt to elucidate the role of methylation in parental imprinting at the IGF-II gene locus, for which imprinting has already been described in the mouse, we undertook an allele specific methylation study of the human IGF-II gene (mapped to 11p15.5) in a control population and in patients with Beckwith-Wiedemann syndrome" 04/01/2007 - "CONCLUSIONS: These results suggest that, in contrast with Beckwith-Wiedemann syndrome-associated macrosomia, loss of imprinting for IGF-II or H19 is not a common feature of diabetic pregnancies associated with macrosomia." 05/09/2000 - "Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome." 04/27/1999 - "Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting." 02/01/1999 - "Such increased IGF-II expression would appear to explain the overgrowth in Beckwith-Wiedemann syndrome" Get all the results and reference details, order at left...
3.	Potassium Channels (Potassium Channel)IBA 03/01/2006 - "METHODS: Two patients with severe congenital hyperinsulinism, one overlapping with Beckwith-Wiedemann syndrome, had pancreatic histology, ex vivo potassium channel electrophysiological studies, and mutation detection of the encoding genes" 07/01/2005 - "Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels." Get all the results and reference details, order at left...
4.	3' Untranslated Regions (3' UTR)IBA 10/01/1993 - "To study insulin-like growth factor 2 (IGF2) imprinting in BWS (Beckwith-Wiedemann syndrome, an overgrowth syndrome associated with Wilms and other embryonal tumours), we examined allele-specific expression using an Apal polymorphism in the 3' untranslated region of IGF2" Get all the results and reference details, order at left...
5.	Somatostatin (Somatotropin Release-Inhibiting Factor)IBA 07/01/1991 - "Patients with Beckwith-Wiedemann syndrome have reduced numbers of somatostatin-producing cells and decreased extractable somatostatin" 07/01/1991 - "The effects of a somatostatin analogue on the metabolism of an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic hypoglycaemia." 07/01/1991 - "In this study the effect of long-acting somatostatin (SMS201-995) on the glucose and insulin levels in an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic non-ketotic hypoglycaemia is described" Get all the results and reference details, order at left...
6.	Parathyroid Hormone (Parathormone)IBA 01/01/1991 - "The locus for the human parathyroid hormone gene (PTH) was assigned to a region proximal to 11p15.4 using restriction fragment length polymorphisms and gene dose studies performed on a patient with the Beckwith-Wiedemann syndrome accompanied with a chromosome abnormality [46,XX,-14,+der(14),t(14;11)(q32.3;p15.3)pat]" Get all the results and reference details, order at left...
7.	Glucose (Dextrose)FDA LinkGeneric 07/01/1991 - "In this study the effect of long-acting somatostatin (SMS201-995) on the glucose and insulin levels in an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic non-ketotic hypoglycaemia is described" Get all the results and reference details, order at left...
8.	aminophenylacetylleucine (APAL)IBA 10/01/1993 - "To study insulin-like growth factor 2 (IGF2) imprinting in BWS (Beckwith-Wiedemann syndrome, an overgrowth syndrome associated with Wilms and other embryonal tumours), we examined allele-specific expression using an Apal polymorphism in the 3' untranslated region of IGF2" Get all the results and reference details, order at left...
9.	SilverIBA 05/01/2008 - "Different epigenetic defects at this locus have been associated with both Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS)" 04/01/2008 - "Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome." 12/01/2002 - "Examples of classic human disorders related to genomic imprinting are Beckwith-Wiedemann syndrome (chromosome 11), Prader-Willi/Angelman syndromes (chromosome 15), Russell-Silver syndrome (chromosome 7), and Albright hereditary osteodystrophy (chromosome 20)" 05/01/2007 - "Recently, several human diseases in addition to Beckwith-Wiedemann syndrome have been reported to have molecular alterations at chromosome 11p15.5. These include isolated hemihyperplasia, Russell-Silver syndrome, and transient neonatal diabetes mellitus" 01/01/2006 - "Disruption of this imprinting causes disorders involving growth defects, such as Beckwith-Wiedemann syndrome, which is associated with fetal overgrowth, or Silver-Russell syndrome, which is associated with intrauterine growth retardation" Get all the results and reference details, order at left...
10.	DNA (Deoxyribonucleic Acid)IBA 06/01/2001 - "Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome." 01/01/1994 - "Cytogenetic and DNA analyses of patients with the Beckwith-Wiedemann syndrome (BWS) enabled us to refine the localization of the syndrome at 11p15.3-pter to two distinct regions" 06/01/1991 - "Placentomegaly with massive hydrops of placental stem villi, diploid DNA content, and fetal omphaloceles: possible association with Beckwith-Wiedemann syndrome." 01/01/1991 - "Congenital hepatoblastoma and Beckwith-Wiedemann syndrome: a case study including DNA ploidy profiles of tumor and adrenal cytomegaly." 12/01/2007 - "We validated the performance of SNPtrio on three platforms (Affymetrix 10 K and 100 K arrays and Illumina 550 K arrays) using SNP data obtained from DNA samples of patients known to have UPD and diagnosed with Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome, pseudohypoparathyroidism, and a complex chromosome 2 abnormality" Get all the results and reference details, order at left...
55 Drugs and Important Bio-Agents and 92 more articles analyzed in the Research Interface, order at left...

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 12/01/2002 - "We report a case of extensive fatty change in a Wilms' tumour after chemotherapy demonstrated on CT associated with an increase in tumour volume, in a 10-month-old girl with Beckwith-Wiedemann syndrome" 08/01/1977 - "This is a brief report of a patient with Wiedemann-Beckwith syndrome and nephroblastoma with metastases, apparently cured by surgery, chemotherapy, and radiation." 11/01/1996 - "Myelodysplasia in a child with Beckwith-Wiedemann syndrome previously treated for hepatoblastoma with multi-agent chemotherapy." 06/01/2002 - "The potential causes of progressive and severe intrarenal fibrosis, infundibular stenosis and nephrocalcinosis, and renal cysts in this patient may include abnormal renal development secondary to Beckwith-Wiedemann syndrome itself, radiation or chemotherapy damage, or a combination." Get all the results and reference details, order at left...
2.	Glossectomy 03/01/1978 - "It was hoped that partial glossectomy at an early age might help circumvent the attendant sequelae of macroglossia in patients with Beckwith-Wiedemann syndrome." 07/01/1990 - "Nine patients with symptomatic macroglossia, 3 with Beckwith-Wiedemann syndrome, 3 with Down's syndrome, and 3 with lymphatic malformation of the tongue, were evaluated for postoperative improvement following partial glossectomy" 07/01/1995 - "In our series of 11 Beckwith-Wiedemann syndrome patients we have observed that early correction of the macroglossia by means of partial glossectomy has resulted in decreased anterior open bite and mandibular prognathism as compared with patients managed conservatively." Get all the results and reference details, order at left...
3.	Anesthesia 09/01/2004 - "Anesthesia in Beckwith-Wiedemann syndrome." 11/01/2001 - "We report anesthetic management of a 13-year-old boy with Beckwith-Wiedemann syndrome for urethral fistulectomy using propofol-fentanyl anesthesia" 11/01/2001 - "Propofol-fentanyl anesthesia for a 13-year-old patient with Beckwith-Wiedemann syndrome]" Get all the results and reference details, order at left...
4.	Phototherapy (Light Therapy) 04/01/1986 - "A premature infant with duplication of material from chromosome 11 and some features of the Beckwith-Wiedemann syndrome developed the bronze baby syndrome when exposed to phototherapy" Get all the results and reference details, order at left...
5.	Oral Pathology 10/31/1989 - "The interest we see in oral pathology about Beckwith-Wiedemann syndrome is not strictly related to the association with neoplasms of the syndrome but, first of all, to the high frequency of macroglossia in the patients affected" Get all the results and reference details, order at left...
9 Therapies and Procedures and 15 more articles analyzed in the Research Interface, order at left...

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