MCID: SCH024
MIFTS: 22

Schinzel Giedion Syndrome

Categories: Rare diseases

Aliases & Classifications for Schinzel Giedion Syndrome

MalaCards integrated aliases for Schinzel Giedion Syndrome:

Name: Schinzel Giedion Syndrome 53 25
Schinzel-Giedion Syndrome 53 25 29 6
Schinzel-Giedion Midface Retraction Syndrome 25
Schinzel Giedion Midface-Retraction Syndrome 53
Sgs 53

Classifications:



Summaries for Schinzel Giedion Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Schinzel Giedion Syndrome, also known as schinzel-giedion syndrome, is related to shprintzen-goldberg craniosynostosis syndrome and setbp1 disorder. 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.

Wikipedia : 76 Schinzel–Giedion syndrome is a congenital neurodegenerative terminal syndrome. First described in 1978... more...

Related Diseases for Schinzel Giedion Syndrome

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 shprintzen-goldberg craniosynostosis syndrome 11.7
2 setbp1 disorder 11.2
3 schinzel-giedion midface retraction syndrome 11.2
4 welander distal myopathy, swedish type 11.1
5 hydronephrosis 10.3
6 teratoma 10.2
7 west syndrome 10.2
8 sacrococcygeal teratoma 10.2
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 renal dysplasia, cystic 10.0
17 epileptic encephalopathy, early infantile, 3 10.0
18 encephalopathy 10.0
19 epileptic encephalopathy, early infantile, 4 10.0
20 multicystic dysplastic kidney 10.0
21 congenital megacalycosis 10.0
22 lissencephaly 10.0

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:

# Genetic test Affiliating Genes
1 Schinzel-Giedion Syndrome 29 SETBP1

Anatomical Context for Schinzel Giedion Syndrome

MalaCards organs/tissues related to Schinzel Giedion Syndrome:

41
Kidney, Heart, Bone, Brain

Publications for Schinzel Giedion Syndrome

Articles related to Schinzel Giedion Syndrome:

(show all 49)
# Title Authors Year
1
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria. ( 29666323 )
2018
2
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. ( 29333303 )
2017
3
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. ( 28346496 )
2017
4
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome. ( 28096980 )
2017
5
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. ( 25663181 )
2015
6
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation. ( 26096993 )
2015
7
West Syndrome in a Patient With Schinzel-Giedion Syndrome. ( 25028416 )
2014
8
Refractory Sacrococcygeal Germ Cell Tumor in Schinzel-Giedion Syndrome. ( 25171454 )
2014
9
Cobblestone lissencephaly in Schinzel-Giedion syndrome. ( 22532548 )
2013
10
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. ( 23400866 )
2013
11
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
12
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. ( 22473152 )
2012
13
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. ( 21371013 )
2011
14
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. ( 21037274 )
2011
15
SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome. ( 20718797 )
2010
16
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. ( 20436468 )
2010
17
Scoliosis in a case of Schinzel-Giedion syndrome. ( 19533249 )
2009
18
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. ( 18398855 )
2008
19
Clinical and radiological findings in Schinzel-Giedion syndrome. ( 18461363 )
2008
20
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. ( 17165030 )
2007
21
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome. ( 16409612 )
2005
22
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. ( 15122424 )
2004
23
Schinzel-Giedion syndrome and alacrima: a case first described in 1996. ( 12833418 )
2003
24
Schinzel-Giedion syndrome: a further cause of West syndrome. ( 12767465 )
2003
25
Schinzel-Giedion syndrome with sacrococcygeal teratoma. ( 12847324 )
2003
26
Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management. ( 11853250 )
2002
27
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. ( 11977181 )
2002
28
Schinzel-Giedion syndrome. ( 11328425 )
2001
29
A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. ( 11285076 )
2001
30
Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. ( 10532180 )
1999
31
Schinzel-Giedion syndrome with severe deafness and neurodegenerative process. ( 10674163 )
1999
32
Schinzel-Giedion syndrome: evidence for a neurodegenerative process. ( 10051170 )
1999
33
Sacral tumors in Schinzel-Giedion syndrome. ( 9738870 )
1998
34
A Croatian case of the Schinzel-Giedion syndrome. ( 8652084 )
1996
35
Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype. ( 8946113 )
1996
36
Schinzel-Giedion syndrome: further delineation of the phenotype. ( 8723563 )
1996
37
Schinzel-Giedion syndrome: report of two sibs. ( 8849020 )
1995
38
A patient with Schinzel-Giedion syndrome and a review of 20 patients. ( 7662999 )
1995
39
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. ( 7864048 )
1994
40
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. ( 7917131 )
1994
41
Three new cases of the Schinzel-Giedion syndrome and review of the literature. ( 8160760 )
1994
42
Schinzel-Giedion syndrome. ( 7883373 )
1994
43
Schinzel-Giedion syndrome. ( 8319710 )
1993
44
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. ( 7506484 )
1993
45
Schinzel-Giedion syndrome and congenital megacalyces. ( 8516031 )
1993
46
Neurosonography and pathology in the Schinzel-Giedion syndrome. ( 1920374 )
1991
47
The Schinzel-Giedion syndrome. A case report and review of the literature. ( 2184969 )
1990
48
The Schinzel-Giedion syndrome. ( 2407846 )
1990
49
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
(show top 50) (show all 258)
# 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.2612T> C (p.Ile871Thr) single nucleotide variant Pathogenic rs267607038 GRCh38 Chromosome 18, 44951952: 44951952
3 SETBP1 NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn) single nucleotide variant Pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
4 SETBP1 NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn) single nucleotide variant Pathogenic rs267607042 GRCh38 Chromosome 18, 44951942: 44951942
5 SETBP1 NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh37 Chromosome 18, 42531908: 42531908
6 SETBP1 NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala) single nucleotide variant Pathogenic rs267607041 GRCh38 Chromosome 18, 44951943: 44951943
7 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh37 Chromosome 18, 42531914: 42531914
8 SETBP1 NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp) single nucleotide variant Pathogenic rs267607039 GRCh38 Chromosome 18, 44951949: 44951949
9 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh37 Chromosome 18, 42531913: 42531913
10 SETBP1 NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 GRCh38 Chromosome 18, 44951948: 44951948
11 SETBP1 NM_015559.2(SETBP1): c.46G> A (p.Glu16Lys) single nucleotide variant Uncertain significance rs587784381 GRCh37 Chromosome 18, 42281357: 42281357
12 SETBP1 NM_015559.2(SETBP1): c.46G> A (p.Glu16Lys) single nucleotide variant Uncertain significance rs587784381 GRCh38 Chromosome 18, 44701392: 44701392
13 SETBP1 NM_015559.2(SETBP1): c.691G> C (p.Val231Leu) single nucleotide variant Benign rs11082414 GRCh37 Chromosome 18, 42529996: 42529996
14 SETBP1 NM_015559.2(SETBP1): c.691G> C (p.Val231Leu) single nucleotide variant Benign rs11082414 GRCh38 Chromosome 18, 44950031: 44950031
15 SETBP1 NM_015559.2(SETBP1): c.1170C> T (p.Ala390=) single nucleotide variant Benign/Likely benign rs8091231 GRCh37 Chromosome 18, 42530475: 42530475
16 SETBP1 NM_015559.2(SETBP1): c.1170C> T (p.Ala390=) single nucleotide variant Benign/Likely benign rs8091231 GRCh38 Chromosome 18, 44950510: 44950510
17 SETBP1 NM_015559.2(SETBP1): c.1223C> G (p.Ala408Gly) single nucleotide variant Uncertain significance rs587784380 GRCh37 Chromosome 18, 42530528: 42530528
18 SETBP1 NM_015559.2(SETBP1): c.1223C> G (p.Ala408Gly) single nucleotide variant Uncertain significance rs587784380 GRCh38 Chromosome 18, 44950563: 44950563
19 SETBP1 NM_015559.2(SETBP1): c.1503C> T (p.Pro501=) single nucleotide variant Uncertain significance rs374300895 GRCh37 Chromosome 18, 42530808: 42530808
20 SETBP1 NM_015559.2(SETBP1): c.1503C> T (p.Pro501=) single nucleotide variant Uncertain significance rs374300895 GRCh38 Chromosome 18, 44950843: 44950843
21 SETBP1 NM_015559.2(SETBP1): c.1932C> T (p.Ser644=) single nucleotide variant Conflicting interpretations of pathogenicity rs3744824 GRCh37 Chromosome 18, 42531237: 42531237
22 SETBP1 NM_015559.2(SETBP1): c.1932C> T (p.Ser644=) single nucleotide variant Conflicting interpretations of pathogenicity rs3744824 GRCh38 Chromosome 18, 44951272: 44951272
23 SETBP1 NM_015559.2(SETBP1): c.2602G> C (p.Asp868His) single nucleotide variant Likely pathogenic rs267607042 GRCh37 Chromosome 18, 42531907: 42531907
24 SETBP1 NM_015559.2(SETBP1): c.2602G> C (p.Asp868His) single nucleotide variant Likely pathogenic rs267607042 GRCh38 Chromosome 18, 44951942: 44951942
25 SETBP1 NM_015559.2(SETBP1): c.3301G> A (p.Val1101Ile) single nucleotide variant Benign rs3744825 GRCh37 Chromosome 18, 42532606: 42532606
26 SETBP1 NM_015559.2(SETBP1): c.3301G> A (p.Val1101Ile) single nucleotide variant Benign rs3744825 GRCh38 Chromosome 18, 44952641: 44952641
27 SETBP1 NM_015559.2(SETBP1): c.3388C> A (p.Pro1130Thr) single nucleotide variant Benign rs1064204 GRCh37 Chromosome 18, 42532693: 42532693
28 SETBP1 NM_015559.2(SETBP1): c.3388C> A (p.Pro1130Thr) single nucleotide variant Benign rs1064204 GRCh38 Chromosome 18, 44952728: 44952728
29 SETBP1 NM_015559.2(SETBP1): c.3825A> C (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh37 Chromosome 18, 42533130: 42533130
30 SETBP1 NM_015559.2(SETBP1): c.3825A> C (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh38 Chromosome 18, 44953165: 44953165
31 SETBP1 NM_015559.2(SETBP1): c.3825A> G (p.Ser1275=) single nucleotide variant Benign rs8096662 GRCh37 Chromosome 18, 42533130: 42533130
32 SETBP1 NM_015559.2(SETBP1): c.3825A> G (p.Ser1275=) single nucleotide variant Benign rs8096662 GRCh38 Chromosome 18, 44953165: 44953165
33 SETBP1 NM_015559.2(SETBP1): c.3825A> T (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh37 Chromosome 18, 42533130: 42533130
34 SETBP1 NM_015559.2(SETBP1): c.3825A> T (p.Ser1275=) single nucleotide variant Uncertain significance rs8096662 GRCh38 Chromosome 18, 44953165: 44953165
35 SETBP1 NM_015559.2(SETBP1): c.4000+10T> A single nucleotide variant Benign rs3786177 GRCh37 Chromosome 18, 42533315: 42533315
36 SETBP1 NM_015559.2(SETBP1): c.4000+10T> A single nucleotide variant Benign rs3786177 GRCh38 Chromosome 18, 44953350: 44953350
37 SETBP1 NM_015559.2(SETBP1): c.4129G> C (p.Val1377Leu) single nucleotide variant Benign/Likely benign rs77518617 GRCh37 Chromosome 18, 42618578: 42618578
38 SETBP1 NM_015559.2(SETBP1): c.4129G> C (p.Val1377Leu) single nucleotide variant Benign/Likely benign rs77518617 GRCh38 Chromosome 18, 45038613: 45038613
39 SETBP1 NM_015559.2(SETBP1): c.4398G> T (p.Glu1466Asp) single nucleotide variant Likely benign rs117498128 GRCh37 Chromosome 18, 42643270: 42643270
40 SETBP1 NM_015559.2(SETBP1): c.4398G> T (p.Glu1466Asp) single nucleotide variant Likely benign rs117498128 GRCh38 Chromosome 18, 45063305: 45063305
41 SETBP1 NM_015559.2(SETBP1): c.4554G> A (p.Glu1518=) single nucleotide variant Conflicting interpretations of pathogenicity rs574196735 GRCh37 Chromosome 18, 42643426: 42643426
42 SETBP1 NM_015559.2(SETBP1): c.4554G> A (p.Glu1518=) single nucleotide variant Conflicting interpretations of pathogenicity rs574196735 GRCh38 Chromosome 18, 45063461: 45063461
43 SETBP1 NM_015559.2(SETBP1): c.4640C> A (p.Thr1547Asn) single nucleotide variant Benign/Likely benign rs201973930 GRCh37 Chromosome 18, 42643512: 42643512
44 SETBP1 NM_015559.2(SETBP1): c.4640C> A (p.Thr1547Asn) single nucleotide variant Benign/Likely benign rs201973930 GRCh38 Chromosome 18, 45063547: 45063547
45 SETBP1 NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs) deletion Pathogenic rs797045952 GRCh37 Chromosome 18, 42531126: 42531126
46 SETBP1 NM_015559.2(SETBP1): c.1821delC (p.Ser608Alafs) deletion Pathogenic rs797045952 GRCh38 Chromosome 18, 44951161: 44951161
47 SETBP1 NM_015559.2(SETBP1): c.3299A> G (p.His1100Arg) single nucleotide variant Likely benign rs149162154 GRCh37 Chromosome 18, 42532604: 42532604
48 SETBP1 NM_015559.2(SETBP1): c.3299A> G (p.His1100Arg) single nucleotide variant Likely benign rs149162154 GRCh38 Chromosome 18, 44952639: 44952639
49 SETBP1 NM_015559.2(SETBP1): c.-241dupG duplication Uncertain significance rs886053786 GRCh37 Chromosome 18, 42260918: 42260918
50 SETBP1 NM_015559.2(SETBP1): c.-241dupG duplication Uncertain significance rs886053786 GRCh38 Chromosome 18, 44680953: 44680953

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

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