MCID: SHP002
MIFTS: 28

Shprintzen-Goldberg Syndrome malady

Summaries for Shprintzen-Goldberg Syndrome

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19GeneReviews, 32MalaCards
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MalaCards: Shprintzen-Goldberg Syndrome, also known as shprintzen-goldberg craniosynostosis syndrome, is related to goldberg-shprintzen megacolon syndrome and aortic aneurysm. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (v-ski avian sarcoma viral oncogene homolog), and among its related pathways are TGF-beta Receptor Signaling Pathway and TGF Beta Signaling Pathway. The compounds vitamin d and hyaluronic acid have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and cardiovascular system.

GeneReviews summary for sgs

Aliases & Classifications for Shprintzen-Goldberg Syndrome

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19GeneReviews, 60UMLS, 42NIH Rare Diseases
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Aliases & Descriptions:

shprintzen-goldberg syndrome 19 60
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


Related Diseases for Shprintzen-Goldberg Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Shprintzen-Goldberg Syndrome:



Diseases related to shprintzen-goldberg syndrome

Clinical Features for Shprintzen-Goldberg Syndrome

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Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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36MGI
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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5TGFB1, SKI, FBN1
2MP:00053858.5TGFB1, SKI, FBN1
3MP:00053698.4TGFB1, SKI, FBN1
4MP:00053808.2FBN1, SKI, TGFB1

Publications for Shprintzen-Goldberg Syndrome

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50PubMed
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Articles related to Shprintzen-Goldberg Syndrome:

(show all 30)
idTitleAuthorsYear
1
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. (24397373)
2014
2
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. (24357594)
2013
3
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. (23330586)
2013
4
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? (22653535)
2012
5
Germline mosacism in Shprintzen-Goldberg syndrome. (22639450)
2012
6
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (23023332)
2012
7
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (23103230)
2012
8
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. (21307714)
2011
9
Response to Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. (21199127)
2010
10
Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. (20670243)
2010
11
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. (17979970)
2008
12
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. (17303258)
2007
13
A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. (17103454)
2006
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 omphalocele syndrome: a new patient with an expanded phenotype. (16411191)
2006
17
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. (15884042)
2005
18
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
19
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
20
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
21
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
22
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
23
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
24
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
25
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
26
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
27
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
28
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
29
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
30
Shprintzen-Goldberg Syndrome (20301454)
1993

Genetic Variations for Shprintzen-Goldberg Syndrome

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Expression for genes affiliated with Shprintzen-Goldberg Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Shprintzen-Goldberg Syndrome

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Pathways for genes affiliated with Shprintzen-Goldberg Syndrome

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37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 53Reactome
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Pathways related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3TGFB1, SKI
29.3TGFB1, SKI
39.3TGFB1, SKI
4
Development TGF-beta receptor signaling
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9.3SKI, TGFB1
5
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9.1TGFB1, FBN1

Compounds for genes affiliated with Shprintzen-Goldberg Syndrome

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d449.8SKI
2hyaluronic acid44 2410.1TGFB1, FBN1
3hydroxyproline44 11 2410.8TGFB1, FBN1
4tgf beta1448.5TGFB1, SKI, FBN1

GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

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16Gene Ontology
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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:0603259.3TGFB1, SKI
2negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.2TGFB1, SKI
3extracellular matrix organizationGO:0301989.1TGFB1, FBN1
4transforming growth factor beta receptor signaling pathwayGO:0071799.0TGFB1, SKI

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet