MCID: SCH024
MIFTS: 23

Schinzel Giedion Syndrome

Categories: Rare diseases

Aliases & Classifications for Schinzel Giedion Syndrome

MalaCards integrated aliases for Schinzel Giedion Syndrome:

Name: Schinzel Giedion Syndrome 50 25
Schinzel-Giedion Syndrome 50 25 29
Schinzel-Giedion Midface Retraction Syndrome 25
Schinzel Giedion Midface-Retraction Syndrome 50
Sgs 50

Classifications:



Summaries for Schinzel Giedion Syndrome

NIH Rare Diseases : 50 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 kidney, heart and bone.

Genetics Home Reference : 25 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

Diseases related to Schinzel Giedion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 shprintzen-goldberg syndrome 11.6
2 schinzel-giedion midface retraction syndrome 11.1
3 welander distal myopathy, swedish type 11.0
4 hydronephrosis 10.2
5 west syndrome 10.1
6 sacrococcygeal teratoma 10.1
7 teratoma 10.1
8 lissencephaly 10.0
9 scoliosis 10.0
10 hypothyroidism 10.0
11 early myoclonic encephalopathy 10.0
12 gingivitis 10.0
13 diabetes insipidus 10.0
14 germ cells tumors 10.0
15 skeletal dysplasias 10.0
16 cobblestone lissencephaly 10.0
17 skeletal dysplasia 10.0
18 encephalopathy 10.0
19 multicystic dysplastic kidney 10.0
20 insulinoma 9.8
21 crimean-congo hemorrhagic fever 9.8
22 hemoglobinopathy 9.8
23 hemorrhagic fever 9.8
24 endotheliitis 9.8

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



Diseases related to Schinzel Giedion Syndrome

Symptoms & Phenotypes for Schinzel Giedion Syndrome

Drugs & Therapeutics for Schinzel Giedion Syndrome

Search Clinical Trials , NIH Clinical Center for Schinzel Giedion Syndrome

Genetic Tests for Schinzel Giedion Syndrome

Genetic tests related to Schinzel Giedion Syndrome:

id Genetic test Affiliating Genes
1 Schinzel-Giedion Syndrome 29

Anatomical Context for Schinzel Giedion Syndrome

MalaCards organs/tissues related to Schinzel Giedion Syndrome:

39
Kidney, Heart, Bone, Brain

Publications for Schinzel Giedion Syndrome

Articles related to Schinzel Giedion Syndrome:

(show all 47)
id Title Authors Year
1
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome. ( 28096980 )
2017
2
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. ( 28346496 )
2017
3
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation. ( 26096993 )
2015
4
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. ( 25663181 )
2015
5
West Syndrome in a Patient With Schinzel-Giedion Syndrome. ( 25028416 )
2014
6
Refractory Sacrococcygeal Germ Cell Tumor in Schinzel-Giedion Syndrome. ( 25171454 )
2014
7
Cobblestone lissencephaly in Schinzel-Giedion syndrome. ( 22532548 )
2013
8
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. ( 23400866 )
2013
9
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. ( 22473152 )
2012
10
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
11
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. ( 21371013 )
2011
12
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. ( 21037274 )
2011
13
SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome. ( 20718797 )
2010
14
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. ( 20436468 )
2010
15
Scoliosis in a case of Schinzel-Giedion syndrome. ( 19533249 )
2009
16
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. ( 18398855 )
2008
17
Clinical and radiological findings in Schinzel-Giedion syndrome. ( 18461363 )
2008
18
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. ( 17165030 )
2007
19
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome. ( 16409612 )
2005
20
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. ( 15122424 )
2004
21
Schinzel-Giedion syndrome and alacrima: a case first described in 1996. ( 12833418 )
2003
22
Schinzel-Giedion syndrome: a further cause of West syndrome. ( 12767465 )
2003
23
Schinzel-Giedion syndrome with sacrococcygeal teratoma. ( 12847324 )
2003
24
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. ( 11977181 )
2002
25
Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management. ( 11853250 )
2002
26
A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. ( 11285076 )
2001
27
Schinzel-Giedion syndrome. ( 11328425 )
2001
28
Schinzel-Giedion syndrome: evidence for a neurodegenerative process. ( 10051170 )
1999
29
Schinzel-Giedion syndrome with severe deafness and neurodegenerative process. ( 10674163 )
1999
30
Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. ( 10532180 )
1999
31
Sacral tumors in Schinzel-Giedion syndrome. ( 9738870 )
1998
32
Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype. ( 8946113 )
1996
33
Schinzel-Giedion syndrome: further delineation of the phenotype. ( 8723563 )
1996
34
A Croatian case of the Schinzel-Giedion syndrome. ( 8652084 )
1996
35
A patient with Schinzel-Giedion syndrome and a review of 20 patients. ( 7662999 )
1995
36
Schinzel-Giedion syndrome: report of two sibs. ( 8849020 )
1995
37
Schinzel-Giedion syndrome. ( 7883373 )
1994
38
Three new cases of the Schinzel-Giedion syndrome and review of the literature. ( 8160760 )
1994
39
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. ( 7917131 )
1994
40
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. ( 7864048 )
1994
41
Schinzel-Giedion syndrome. ( 8319710 )
1993
42
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. ( 7506484 )
1993
43
Schinzel-Giedion syndrome and congenital megacalyces. ( 8516031 )
1993
44
Neurosonography and pathology in the Schinzel-Giedion syndrome. ( 1920374 )
1991
45
The Schinzel-Giedion syndrome. A case report and review of the literature. ( 2184969 )
1990
46
The Schinzel-Giedion syndrome. ( 2407846 )
1990
47
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. ( 7086596 )
1982

Variations for Schinzel Giedion Syndrome

ClinVar genetic disease variations for Schinzel Giedion Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SETBP1 NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr) single nucleotide variant Pathogenic rs267607038 GRCh37 Chromosome 18, 42531917: 42531917
2 SETBP1 NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn) single nucleotide variant Pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
3 SETBP1 NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh37 Chromosome 18, 42531908: 42531908
4 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh37 Chromosome 18, 42531914: 42531914
5 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh37 Chromosome 18, 42531913: 42531913
6 SETBP1 NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs) deletion Pathogenic rs797045952 GRCh38 Chromosome 18, 44951161: 44951161

Expression for Schinzel Giedion Syndrome

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

Pathways for Schinzel Giedion Syndrome

GO Terms for Schinzel Giedion Syndrome

Sources for Schinzel Giedion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....