MCID: SCH024
MIFTS: 24

Schinzel Giedion Syndrome malady

Category: Rare diseases

Aliases & Classifications for Schinzel Giedion Syndrome

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Aliases & Descriptions for Schinzel Giedion Syndrome:

Name: Schinzel Giedion Syndrome 45 23
Schinzel-Giedion Syndrome 45 23 24
Schinzel-Giedion Midface Retraction Syndrome 23
 
Schinzel Giedion Midface-Retraction Syndrome 45
Sgs 45

Classifications:



Summaries for Schinzel Giedion Syndrome

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NIH Rare Diseases:45 Schinzel giedion syndrome (sgs) is a rare, severe condition that is present from birth and affects many parts of the body. features of sgs include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. affected children usually do not survive beyond a few years after birth. sgs is caused by a mutation in the setbp1 gene. the mutation is not inherited from a parent, but occurs for the first time in the affected child (a de novo mutation). treatment is based on symptoms and consists of palliative care. last updated: 5/23/2016

MalaCards based summary: Schinzel Giedion Syndrome, also known as schinzel-giedion syndrome, is related to shprintzen-goldberg syndrome and schinzel-giedion midface retraction syndrome. An important gene associated with Schinzel Giedion Syndrome is SETBP1 (SET Binding Protein 1). Affiliated tissues include heart, kidney and bone.

Genetics Home Reference:23 Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.

Related Diseases for Schinzel Giedion Syndrome

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Graphical network of the top 20 diseases related to Schinzel Giedion Syndrome:



Diseases related to schinzel giedion syndrome

Symptoms for Schinzel Giedion Syndrome

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Drugs & Therapeutics for Schinzel Giedion Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Schinzel Giedion Syndrome

Genetic Tests for Schinzel Giedion Syndrome

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Anatomical Context for Schinzel Giedion Syndrome

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MalaCards organs/tissues related to Schinzel Giedion Syndrome:

33
Heart, Kidney, Bone, Thyroid, Nk cells, Endothelial, T cells

Animal Models for Schinzel Giedion Syndrome or affiliated genes

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Publications for Schinzel Giedion Syndrome

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Articles related to Schinzel Giedion Syndrome:

(show all 45)
idTitleAuthorsYear
1
Phospholipase C epsilon (PLCI/) induced TRPC6 activation: a common but redundant mechanism in primary podocytes. (25521631)
2015
2
Phase 2 Study of Docetaxel, Cisplatin, and Concurrent Radiation for Technically Resectable Stage III-IV Squamous Cell Carcinoma of the Head and Neck. (25832686)
2015
3
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). (23660549)
2013
4
Health behaviors predict higher interleukin-6 levels among patients newly diagnosed with head and neck squamous cell carcinoma. (23300019)
2013
5
Cetuximab promotes anticancer drug toxicity in rhabdomyosarcomas with EGFR amplification in vitro. (23828214)
2013
6
The CXCL12/CXCR4 axis promotes ligand-independent activation of the androgen receptor. (22245379)
2012
7
Acute disseminated encephalomyelitis following filarial infection. (21700730)
2012
8
Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-I9F508 processing and alter its gating defect. (22210114)
2012
9
MMP9 cleavage of the I^4 integrin ectodomain leads to recurrent epithelial erosions in mice. (21750188)
2011
10
Expression of myofibroblast activation molecules in proliferative vitreoretinopathy epiretinal membranes. (20528783)
2011
11
Telomerase-specific GV1001 peptide vaccination fails to induce objective tumor response in patients with cutaneous T cell lymphoma. (21377838)
2011
12
Disseminated molluscum contagiosum in a HIV-positive child. Improvement after therapy with 5% imiquimod. (21894250)
2011
13
ATPase family AAA domain containing 3A is an anti-apoptotic factor and a secretion regulator of PSA in prostate cancer. (21584487)
2011
14
Sudden sensorineural hearing loss in multiple sclerosis: clinical course and possible pathogenesis. (21198448)
2011
15
FGF23-parathyroid interaction: implications in chronic kidney disease. (20010546)
2010
16
Sodium valproate, a histone deacetylase inhibitor, augments the expression of cell-surface NKG2D ligands, MICA/B, without increasing their soluble forms to enhance susceptibility of human osteosarcoma cells to NK cell-mediated cytotoxicity. (21042760)
2010
17
Influence of phosphorylation of THR-3, SER-11, and SER-15 on deoxycytidine kinase activity and stability. (20544527)
2010
18
Functional characterization of cytochrome P450 2A6 allelic variants CYP2A6*15, CYP2A6*16, CYP2A6*21, and CYP2A6*22. (20139165)
2010
19
Leptin-stimulated endothelial nitric-oxide synthase via an adenosine 5'-monophosphate-activated protein kinase/Akt signaling pathway is attenuated by interaction with C-reactive protein. (19359389)
2009
20
Sp1-mediated transcription regulation of TAF-Ialpha gene encoding a histone chaperone. (18809386)
2008
21
Amonafide L-malate is not a substrate for multidrug resistance proteins in secondary acute myeloid leukemia. (18418409)
2008
22
Adiponectin decreases postprandially following a heat-processed meal in individuals with type 2 diabetes: an effect prevented by benfotiamine and cooking method. (17630265)
2007
23
Gap junctional proteins of animals: the innexin/pannexin superfamily. (17507077)
2007
24
Mohs micrographic surgery for an unusual case of keratoacanthoma arising from a longstanding tattoo. (17941365)
2007
25
Idiopathic retinitis, vasculitis, aneurysms, and neuroretinitis (IRVAN): new observations and a proposed staging system. (17678691)
2007
26
CHD7 gene and non-syndromic cleft lip and palate. (16763960)
2006
27
N-cadherin as a novel prognostic marker of progression in superficial urothelial tumors. (16675571)
2006
28
Nucleolin links to arsenic-induced stabilization of GADD45alpha mRNA. (16421274)
2006
29
Hypothyroid myopathy caused by interferon-alpha therapy for chronic hepatitis C]. (16022470)
2005
30
Acute ulcerative laryngitis. (15971743)
2005
31
Laboratory diagnosis of legionnaires' disease due to Legionella pneumophila serogroup 1: comparison of phenotypic and genotypic methods. (14970242)
2004
32
Comparison of anterior and posterior surgical approaches in the treatment of ventral spinal hemangioblastomas in patients with von Hippel-Lindau disease. (12546359)
2003
33
Effects of ischemic tolerance on mRNA levels of IP3R1, beta-actin, and neuron-specific enolase in hippocampal CA1 area of the gerbil brain. (9566589)
1998
34
Neurohypophysial hormone and melatonin secretion over the natural and suppressed menstrual cycle in premenopausal women. (9828909)
1998
35
Changes in serum pepsinogen, gastrin, and immunoglobulin G antibody titers in helicobacter pylori-positive gastric ulcer after eradication of infection. (9412911)
1997
36
Structural characterization of variant forms of arylsulfatase A that associate with alcoholism. (8730213)
1996
37
Transcriptional regulation of human thyroid hormone receptor beta 1 gene expression: effect of human retinoid X receptor and identification of a transcriptional silencer region. (7672440)
1995
38
Simultaneous expression of thyroid peroxidase and human leukocyte antigen-DR by human thyroid cells: modulation by thyrotropin, thyroid-stimulating antibody, and interferon-gamma. (7913937)
1994
39
Zidovudine in asymptomatic human immunodeficiency virus infection. A controlled trial in persons with fewer than 500 CD4-positive cells per cubic millimeter. The AIDS Clinical Trials Group of the National Institute of Allergy and Infectious Diseases. (1969115)
1990
40
Prevalence of maternal Ro (SS-A) and La (SS-B) autoantibodies in relation to congenital heart block. (3284603)
1988
41
Spontaneous disappearance of cutaneous sporotrichosis. Report of two cases. (4066092)
1985
42
The ultrastructure of Descemet's membrane. II. Aphakic bullous keratopathy. (7150062)
1982
43
A pigment found in Crigler--Najjar syndrome and its similarity to an ultrafiltrable photoderivative of bilirubin. (4434643)
1974
44
Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded. (5124677)
1971
45
Potassium intoxication presumably due to acute functional adrenocortical insufficiency. (13114817)
1954

Variations for Schinzel Giedion Syndrome

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Expression for genes affiliated with Schinzel Giedion Syndrome

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Search GEO for disease gene expression data for Schinzel Giedion Syndrome.

Pathways for genes affiliated with Schinzel Giedion Syndrome

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GO Terms for genes affiliated with Schinzel Giedion Syndrome

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Sources for Schinzel Giedion Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet