MCID: SHP002
MIFTS: 31

Shprintzen-Goldberg Syndrome malady

Rare diseases category
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Summaries for Shprintzen-Goldberg Syndrome

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MalaCards based summary: Shprintzen-Goldberg Syndrome, also known as shprintzen-goldberg craniosynostosis syndrome, is related to goldberg-shprintzen megacolon syndrome and craniosynostosis, syndromic. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (v-ski avian sarcoma viral oncogene homolog), and among its related pathways are Loss of Function of SMAD2/3 in Cancer and Development TGF beta receptor signaling. The compounds hyaluronic acid and hydroxyproline have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and muscle.

GeneReviews summary for sgs

Aliases & Classifications for Shprintzen-Goldberg Syndrome

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Shprintzen-Goldberg Syndrome, Aliases & Descriptions:

Name: Shprintzen-Goldberg Syndrome 19 42 62
Shprintzen-Goldberg Craniosynostosis Syndrome 19 42
Shprintzen-Goldberg Marfanoid Syndrome 19 42
Marfanoid-Craniosynostosis Syndrome 19 42
 
Craniosynostosis with Arachnodactyly and Abdominal Hernias 42
Marfanoid Disorder with Craniosynostosis Type 1 42
Marfanoid Craniosynostosis Syndrome 42


Classifications:

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


Related Diseases for Shprintzen-Goldberg Syndrome

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Diseases related to Shprintzen-Goldberg Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1goldberg-shprintzen megacolon syndrome10.8
2craniosynostosis, syndromic10.6
3craniosynostosis10.5
4aortic aneurysm10.5
5aneurysm10.5
6hydrocephalus10.3
7tetralogy of fallot10.3
8omphalocele10.3
9hypertrophic scars9.9TGFB1, FBN1
10connective tissue disease9.9TGFB1, FBN1
11systemic scleroderma9.9TGFB1, FBN1
12arthritis9.9TGFB1, FBN1
13atherosclerosis9.9TGFB1, FBN1
14pancreatic cancer9.8SKI, TGFB1
15osteosarcoma9.8TGFB1, FBN1

Graphical network of diseases related to Shprintzen-Goldberg Syndrome:



Diseases related to shprintzen-goldberg syndrome

Symptoms for Shprintzen-Goldberg Syndrome

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Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

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Drug clinical trials:

Search ClinicalTrials for Shprintzen-Goldberg Syndrome

Search NIH Clinical Center for Shprintzen-Goldberg Syndrome

Genetic Tests for Shprintzen-Goldberg Syndrome

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Anatomical Context for Shprintzen-Goldberg Syndrome

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Animal Models for Shprintzen-Goldberg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7SKI, TGFB1, FBN1
2MP:00053698.7SKI, TGFB1, FBN1
3MP:00053808.6FBN1, TGFB1, SKI
4MP:00053858.6SKI, TGFB1, FBN1
5MP:00053848.5FBN1, TGFB1, SKI
6MP:00053768.5SKI, TGFB1, FBN1
7MP:00036318.4SKI, TGFB1, FBN1
8MP:00053788.2FBN1, TGFB1, SKI

Publications for Shprintzen-Goldberg Syndrome

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Articles related to Shprintzen-Goldberg Syndrome:

(show all 29)
idTitleAuthorsYear
1
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. (24736733)
2014
2
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. (24611072)
2014
3
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. (24397373)
2014
4
Double-valve surgery in Shprintzen-Goldberg syndrome. (24887819)
2014
5
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. (24357594)
2013
6
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. (23330586)
2013
7
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? (22653535)
2012
8
Germline mosacism in Shprintzen-Goldberg syndrome. (22639450)
2012
9
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (23023332)
2012
10
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (23103230)
2012
11
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. (21307714)
2011
12
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. (17979970)
2008
13
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. (17303258)
2007
14
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. (16970241)
2006
15
Molecular pathology of Shprintzen-Goldberg syndrome. (16333834)
2006
16
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. (15884042)
2005
17
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
18
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
19
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
20
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
21
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
22
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
23
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
24
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
25
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
26
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
27
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
28
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
29
Shprintzen-Goldberg Syndrome (20301454)
1993

Variations for Shprintzen-Goldberg Syndrome

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Clinvar genetic disease variations for Shprintzen-Goldberg Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
2SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
3SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
4SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
5SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
6SKINM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
7SKINM_003036.3(SKI): c.101G> T (p.Gly34Val)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
8SKINM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
9SKINM_003036.3(SKI): c.104C> A (p.Pro35Gln)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
10SKINM_003036.3(SKI): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs397514590GRCh37Chr 1, 2160308: 2160308

Expression for genes affiliated with Shprintzen-Goldberg Syndrome

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Expression patterns in normal tissues for genes affiliated with Shprintzen-Goldberg Syndrome

Search GEO for disease gene expression data for Shprintzen-Goldberg Syndrome.

Pathways for genes affiliated with Shprintzen-Goldberg Syndrome

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Pathways related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3TGFB1, SKI
29.3TGFB1, SKI
39.3TGFB1, SKI
49.3TGFB1, SKI
59.3SKI, TGFB1
6
Show member pathways
9.3SKI, TGFB1
7
Show member pathways
9.1FBN1, TGFB1
8
Show member pathways
9.1FBN1, TGFB1
9
Show member pathways
9.1TGFB1, FBN1
10
Show member pathways
9.1TGFB1, FBN1

Compounds for genes affiliated with Shprintzen-Goldberg Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hyaluronic acid44 2410.1TGFB1, FBN1
2hydroxyproline44 24 1110.8TGFB1, FBN1
3tgf beta1448.5SKI, TGFB1, FBN1
4vitamin d448.4FBN1, TGFB1, SKI

GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

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Cellular components related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.1TGFB1, FBN1

Biological processes related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1face morphogenesisGO:0603259.4TGFB1, SKI
2negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.4TGFB1, SKI
3transforming growth factor beta receptor signaling pathwayGO:0071799.3SKI, TGFB1
4negative regulation of transcription from RNA polymerase II promoterGO:0001229.3TGFB1, SKI
5negative regulation of cell proliferationGO:0082859.0TGFB1, SKI
6extracellular matrix organizationGO:0301989.0FBN1, TGFB1

Products for genes affiliated with Shprintzen-Goldberg Syndrome

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Sources for Shprintzen-Goldberg Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet