MCID: SHP002
MIFTS: 30

Shprintzen-Goldberg Syndrome malady

Rare diseases category

Summaries for Shprintzen-Goldberg Syndrome

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Sources:
20GeneReviews, 34MalaCards
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MalaCards: 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 TGF-beta Receptor Signaling Pathway 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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Sources:
20GeneReviews, 44NIH Rare Diseases, 63UMLS
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Classifications:

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


Aliases & Descriptions:

shprintzen-goldberg syndrome 20 44 63
shprintzen-goldberg craniosynostosis syndrome 20 44
shprintzen-goldberg marfanoid syndrome 20 44
marfanoid-craniosynostosis syndrome 20 44
craniosynostosis with arachnodactyly and abdominal hernias 44
marfanoid disorder with craniosynostosis type 1 44
marfanoid craniosynostosis syndrome 44


Related Diseases for Shprintzen-Goldberg Syndrome

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18GeneCards, 19GeneDecks
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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
3aortic aneurysm10.5
4craniosynostosis10.5
5aneurysm10.5
6tetralogy of fallot10.3
7hydrocephalus10.3
8omphalocele10.3
9hypertrophic scars10.0FBN1, TGFB1
10connective tissue disease10.0TGFB1, FBN1
11systemic scleroderma10.0TGFB1, FBN1
12arthritis10.0FBN1, TGFB1
13atherosclerosis10.0FBN1, TGFB1
14osteosarcoma10.0TGFB1, FBN1
15pancreatic cancer10.0TGFB1, SKI

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Shprintzen-Goldberg Syndrome

Drug clinical trials:

Search ClinicalTrials for Shprintzen-Goldberg Syndrome

Search NIH Clinical Center for Shprintzen-Goldberg Syndrome

Search CenterWatch 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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Sources:
38MGI
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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

38
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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53PubMed
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Articles related to Shprintzen-Goldberg Syndrome:

(show all 26)
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
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. (17979970)
2008
10
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. (17303258)
2007
11
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. (16970241)
2006
12
Molecular pathology of Shprintzen-Goldberg syndrome. (16333834)
2006
13
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. (15884042)
2005
14
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
15
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
16
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
17
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
18
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
19
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
20
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
21
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
22
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
23
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
24
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
25
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
26
Shprintzen-Goldberg Syndrome (20301454)
1993

Variations for Shprintzen-Goldberg Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Shprintzen-Goldberg Syndrome:

1
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 56Reactome
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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
3
Show member pathways
9.3SKI, TGFB1
49.3SKI, TGFB1
59.3SKI, TGFB1
6
Show member pathways
9.3SKI, TGFB1
7
Show member pathways
9.1TGFB1, FBN1
8
Show member pathways
9.1TGFB1, FBN1
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:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hyaluronic acid46 2510.1TGFB1, FBN1
2hydroxyproline46 25 1210.8TGFB1, FBN1
3tgf beta1468.5SKI, TGFB1, FBN1
4vitamin d468.4FBN1, TGFB1, SKI

GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

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Sources:
17Gene 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:0603259.4SKI, TGFB1
2negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.4SKI, TGFB1
3transforming growth factor beta receptor signaling pathwayGO:0071799.3SKI, TGFB1
4negative regulation of transcription from RNA polymerase II promoterGO:0001229.3SKI, TGFB1
5negative regulation of cell proliferationGO:0082859.0SKI, TGFB1
6extracellular matrix organizationGO:0301989.0FBN1, TGFB1

Products for genes affiliated with Shprintzen-Goldberg Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Shprintzen-Goldberg Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet