MCID: SHP002
MIFTS: 27

Shprintzen-Goldberg Syndrome malady

Summaries for Shprintzen-Goldberg Syndrome

Sources:
19GeneReviews, 33MalaCards
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MalaCards: Shprintzen-Goldberg Syndrome, also known as shprintzen-goldberg craniosynostosis syndrome, is related to goldberg-shprintzen megacolon syndrome and marfan syndrome. 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. Affiliated tissues include brain, and related mouse phenotypes are craniofacial and cardiovascular system.

GeneReviews summary for sgs

Aliases & Classifications for Shprintzen-Goldberg Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

shprintzen-goldberg syndrome 19 61
shprintzen-goldberg craniosynostosis syndrome 19 43
shprintzen-goldberg marfanoid syndrome 19 43
marfanoid-craniosynostosis syndrome 19 43
craniosynostosis with arachnodactyly and abdominal hernias 43
marfanoid disorder with craniosynostosis type 1 43
marfanoid craniosynostosis syndrome 43


Related Diseases for Shprintzen-Goldberg Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Shprintzen-Goldberg Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1goldberg-shprintzen megacolon syndrome31.1FBN1
2marfan syndrome30.6FBN1
3aortic aneurysm30.6FBN1
4n syndrome10.3
5char syndrome10.3
6omphalocele10.3
7monosomy 2210.3
8bullous keratopathy10.0FBN1
9cutis laxa10.0FBN1
10mitral valve prolapse10.0FBN1
11primary pulmonary hypertension10.0FBN1
12lichen planus10.0FBN1
13myopia 610.0FBN1
14hypercholesterolemia10.0FBN1
15hypertrophic scars10.0TGFB1, FBN1
16systemic scleroderma10.0FBN1, TGFB1
17connective tissue disease10.0TGFB1, FBN1
18hepatocellular carcinoma10.0TGFB1, FBN1

Graphical network of diseases related to Shprintzen-Goldberg Syndrome:



Diseases related to shprintzen-goldberg syndrome

Clinical Features for Shprintzen-Goldberg Syndrome

Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Shprintzen-Goldberg Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

33
Brain

Animal Models for Shprintzen-Goldberg Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

37
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

Sources:
51PubMed
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Articles related to Shprintzen-Goldberg Syndrome:

(show all 35)
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
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. (20621975)
2010
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
A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. (17103454)
2006
15
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. (16970241)
2006
16
Molecular pathology of Shprintzen-Goldberg syndrome. (16333834)
2006
17
Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype. (16411191)
2006
18
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. (15884042)
2005
19
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
20
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
21
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
22
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). (10874640)
1999
23
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
24
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
25
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
26
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) (9409878)
1997
27
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
28
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
29
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
30
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
31
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
32
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
33
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
34
Shprintzen-Goldberg Syndrome (20301454)
1993
35
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. (1785632)
1991

Genetic Variations for Shprintzen-Goldberg Syndrome

Expression for genes affiliated with Shprintzen-Goldberg Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 54Reactome
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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
Hide members
9.3SKI, TGFB1
5
Hide members
9.1TGFB1, FBN1

Compounds for genes affiliated with Shprintzen-Goldberg Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Shprintzen-Goldberg Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d459.8SKI
2hyaluronic acid45 2410.1TGFB1, FBN1
3hydroxyproline45 11 2410.8TGFB1, FBN1
4tgf beta1458.5TGFB1, SKI, FBN1

GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Shprintzen-Goldberg Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet