MCID: SCH024
MIFTS: 23

Schinzel Giedion Syndrome malady

Rare diseases category

Summaries for Schinzel Giedion Syndrome

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NIH Rare Diseases:41 Schinzel-giedion syndrome is a rare genetic syndrome. common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance. recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children. the underlying genetic defect that causes the condition has not yet been identified. last updated: 1/20/2009

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

Genetics Home Reference:21 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.

Aliases & Classifications for Schinzel Giedion Syndrome

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Schinzel Giedion Syndrome, Aliases & Descriptions:

Name: Schinzel Giedion Syndrome 41 21
Schinzel-Giedion Syndrome 41 21 22
Schinzel-Giedion Midface Retraction Syndrome 21
 
Schinzel Giedion Midface-Retraction Syndrome 41
Sgs 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


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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Drug clinical trials:

Search ClinicalTrials for Schinzel Giedion Syndrome

Search NIH Clinical Center for Schinzel Giedion Syndrome

Genetic Tests for Schinzel Giedion Syndrome

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Genetic tests related to Schinzel Giedion Syndrome:

id Genetic test Affiliating Genes
1 Schinzel-Giedion Syndrome22

Anatomical Context for Schinzel Giedion Syndrome

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MalaCards organs/tissues related to Schinzel Giedion Syndrome:

31
Kidney, Bone, Brain

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 44)
idTitleAuthorsYear
1
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. (25663181)
2015
2
Refractory Sacrococcygeal Germ Cell Tumor in Schinzel-Giedion Syndrome. (25171454)
2014
3
West Syndrome in a Patient With Schinzel-Giedion Syndrome. (25028416)
2014
4
Cobblestone lissencephaly in Schinzel-Giedion syndrome. (22532548)
2013
5
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. (23400866)
2013
6
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. (21507589)
2012
7
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. (22473152)
2012
8
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. (21037274)
2011
9
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (21371013)
2011
10
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (20436468)
2010
11
SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome. (20718797)
2010
12
Scoliosis in a case of Schinzel-Giedion syndrome. (19533249)
2009
13
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. (18398855)
2008
14
Clinical and radiological findings in Schinzel-Giedion syndrome. (18461363)
2008
15
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. (17165030)
2007
16
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome. (16409612)
2005
17
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. (15122424)
2004
18
Schinzel-Giedion syndrome: a further cause of West syndrome. (12767465)
2003
19
Schinzel-Giedion syndrome and alacrima: a case first described in 1996. (12833418)
2003
20
Schinzel-Giedion syndrome with sacrococcygeal teratoma. (12847324)
2003
21
Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management. (11853250)
2002
22
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. (11977181)
2002
23
Schinzel-Giedion syndrome. (11328425)
2001
24
A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. (11285076)
2001
25
Schinzel-Giedion syndrome with severe deafness and neurodegenerative process. (10674163)
1999
26
Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. (10532180)
1999
27
Schinzel-Giedion syndrome: evidence for a neurodegenerative process. (10051170)
1999
28
Sacral tumors in Schinzel-Giedion syndrome. (9738870)
1998
29
Schinzel-Giedion syndrome: further delineation of the phenotype. (8723563)
1996
30
Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype. (8946113)
1996
31
A Croatian case of the Schinzel-Giedion syndrome. (8652084)
1996
32
Schinzel-Giedion syndrome: report of two sibs. (8849020)
1995
33
A patient with Schinzel-Giedion syndrome and a review of 20 patients. (7662999)
1995
34
Three new cases of the Schinzel-Giedion syndrome and review of the literature. (8160760)
1994
35
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. (7917131)
1994
36
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. (7864048)
1994
37
Schinzel-Giedion syndrome. (7883373)
1994
38
Schinzel-Giedion syndrome and congenital megacalyces. (8516031)
1993
39
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. (7506484)
1993
40
Schinzel-Giedion syndrome. (8319710)
1993
41
Neurosonography and pathology in the Schinzel-Giedion syndrome. (1920374)
1991
42
The Schinzel-Giedion syndrome. A case report and review of the literature. (2184969)
1990
43
The Schinzel-Giedion syndrome. (2407846)
1990
44
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. (7086596)
1982

Variations for Schinzel Giedion Syndrome

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Clinvar genetic disease variations for Schinzel Giedion Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SETBP1NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr)single nucleotide variantPathogenicrs267607038GRCh37Chr 18, 42531917: 42531917
2SETBP1NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn)single nucleotide variantPathogenicrs267607042GRCh37Chr 18, 42531907: 42531907
3SETBP1NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala)single nucleotide variantPathogenicrs267607041GRCh37Chr 18, 42531908: 42531908
4SETBP1NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp)single nucleotide variantPathogenicrs267607039GRCh37Chr 18, 42531914: 42531914
5SETBP1NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser)single nucleotide variantPathogenicrs267607040GRCh37Chr 18, 42531913: 42531913

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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Compounds for genes affiliated with Schinzel Giedion Syndrome

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GO Terms for genes affiliated with Schinzel Giedion Syndrome

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Products for genes affiliated with Schinzel Giedion Syndrome

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Sources for Schinzel Giedion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet