SGS
MCID: SHP002
MIFTS: 53

Shprintzen-Goldberg Syndrome (SGS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Shprintzen-Goldberg Syndrome

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Aliases & Descriptions for Shprintzen-Goldberg Syndrome:

Name: Shprintzen-Goldberg Syndrome 52 23 48 24 25 54 12
Shprintzen-Goldberg Craniosynostosis Syndrome 52 23 48 24 25 70
Marfanoid Craniosynostosis Syndrome 48 24 54 70
Goldberg-Shprintzen Syndrome 52 11 27 13
Goldberg-Shprintzen Megacolon Syndrome 11 39 68
Shprintzen-Goldberg Marfanoid Syndrome 23 48 24
 
Marfanoid-Craniosynostosis Syndrome 23 48 25
Craniosynostosis with Arachnodactyly and Abdominal Hernias 48 70
Sgs 54 70
Marfanoid Disorder with Craniosynostosis Type 1 48
Marfanoid Disorder with Craniosynostosis Type I 70

Characteristics:

Orphanet epidemiological data:

54
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
shprintzen-goldberg syndrome:
Inheritance: autosomal dominant inheritance, sporadic

GeneReviews:

23
Penetrance: penetrance is unknown...


Classifications:



External Ids:

Disease Ontology11 DOID:0060481
Orphanet54 ORPHA2462
ICD10 via Orphanet31 Q87.8
MESH via Orphanet40 C537328
UMLS via Orphanet69 C1321551
MedGen37 C1321551

Summaries for Shprintzen-Goldberg Syndrome

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OMIM:52 Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic,... (182212) more...

MalaCards based summary: Shprintzen-Goldberg Syndrome, also known as shprintzen-goldberg craniosynostosis syndrome, is related to goldberg-shprintzen megacolon syndrome and schinzel giedion syndrome, and has symptoms including inguinal hernia, cryptorchidism and narrow palate. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (SKI Proto-Oncogene), and among its related pathways are Dopaminergic Neurogenesis and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, skeletal muscle and bone, and related mouse phenotypes are craniofacial and embryo.

Genetics Home Reference:25 Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities.

UniProtKB/Swiss-Prot:70 Shprintzen-Goldberg craniosynostosis syndrome: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.

Description from OMIM:52 609460

GeneReviews for NBK1277

Related Diseases for Shprintzen-Goldberg Syndrome

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1goldberg-shprintzen megacolon syndrome12.8
2schinzel giedion syndrome11.6
3craniosynostosis10.3
4heritable thoracic aortic disease10.2FBN1, TGFB1
5aortic aneurysm10.2
6aneurysm10.2
7epiphyseal dysplasia, multiple, 310.2EDN3, EDNRB
8geleophysic dysplasia 210.1FBN1, TGFB1
9megacolon10.1
10axonal neuropathy10.1
11neuropathy10.1
12wdha syndrome10.1EDN3, EDNRB
13waardenburg syndrome, type 4a10.1EDNRB, RET
14tetralogy of fallot10.0
15hydrocephalus10.0
16scoliosis10.0
17umbilical hernia10.0
18intellectual disability10.0
19oculocerebral syndrome with hypopigmentation10.0KAT6B, MED12
20meigel disease10.0GDNF, RET
21ceroid lipofuscinosis, neuronal, 59.9EDN3, EDNRB, RET
22hypoparathyroidism-intellectual disability-dysmorphism syndrome9.9GDNF, RET
23hirschsprung disease 19.9EDNRB, GDNF, RET
24sweat gland cancer9.9EDNRB, GDNF, RET
25hemopericardium9.9ASCL1, EDNRB, NGF
26myopathy of extraocular muscle9.9EDN3, EDNRB, RET
27neutropenia, severe congenital, 5, autosomal recessive9.8ASCL1, EDNRB, GDNF, RET
28insulinoma9.8
29crimean-congo hemorrhagic fever9.8
30hemoglobinopathy9.8
31hemorrhagic fever9.8
32endotheliitis9.8
33ariboflavinosis9.8EDN3, EDNRB, GDNF, RET
34spinal meningioma9.7EDN3, EDNRB, GDNF, KIF1BP, RET
35connective tissue cancer9.6GDNF, NGF, RET, TGFB1
36skin pilomatrix carcinoma9.6ASCL1, EDN3, EDNRB, GDNF, RET
37chronic infections, due to mbl deficiency9.6ASCL1, EDN3, EDNRB, GDNF, RET
38pheochromocytoma9.5ASCL1, GDNF, NGF, RET
39tooth agenesis, selective, 59.5ASCL1, EDN3, EDNRB, GDNF, KIF1BP, RET

Graphical network of the top 20 diseases related to Shprintzen-Goldberg Syndrome:



Diseases related to shprintzen-goldberg syndrome

Symptoms & Phenotypes for Shprintzen-Goldberg Syndrome

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Symptoms by clinical synopsis from OMIM:

182212

Clinical features from OMIM:

182212,609460

Human phenotypes related to Shprintzen-Goldberg Syndrome:

 64 (show all 56)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 cryptorchidism64 HP:0000028
3 narrow palate64 HP:0000189
4 high palate64 HP:0000218
5 hydrocephalus64 HP:0000238
6 microcephaly64 HP:0000252
7 wide anterior fontanel64 HP:0000260
8 dolichocephaly64 HP:0000268
9 hypertelorism64 HP:0000316
10 hypoplasia of the maxilla64 HP:0000327
11 micrognathia64 HP:0000347
12 low-set, posteriorly rotated ears64 HP:0000368
13 abnormality of the pinna64 HP:0000377
14 conductive hearing impairment64 HP:0000405
15 anteverted nares64 HP:0000463
16 strabismus64 HP:0000486
17 downslanted palpebral fissures64 HP:0000494
18 telecanthus64 HP:0000506
19 ptosis64 HP:0000508
20 myopia64 HP:0000545
21 shallow orbits64 HP:0000586
22 dental malocclusion64 HP:0000689
23 pectus excavatum64 HP:0000767
24 pectus carinatum64 HP:0000768
25 thin ribs64 HP:0000883
26 lateral clavicle hook64 HP:0000895
27 osteopenia64 HP:0000938
28 hyperextensible skin64 HP:0000974
29 arachnodactyly64 HP:0001166
30 intellectual disability64 HP:0001249
31 muscular hypotonia64 HP:0001252
32 global developmental delay64 HP:0001263
33 craniosynostosis64 HP:0001363
34 joint laxity64 HP:0001388
35 umbilical hernia64 HP:0001537
36 mitral valve prolapse64 HP:0001634
37 aortic dilatation64 HP:0001724
38 talipes equinovarus64 HP:0001762
39 pes planus64 HP:0001763
40 metatarsus adductus64 HP:0001840
41 frontal bossing64 HP:0002007
42 gastroesophageal reflux64 HP:0002020
43 scoliosis64 HP:0002650
44 genu recurvatum64 HP:0002816
45 genu valgum64 HP:0002857
46 obstructive sleep apnea64 HP:0002870
47 metaphyseal widening64 HP:0003016
48 dislocated radial head64 HP:0003083
49 minimal subcutaneous fat64 HP:0003717
50 supernumerary ribs64 HP:0005815
51 arnold-chiari type i malformation64 HP:0007099
52 c1-c2 vertebral abnormality64 HP:0008440
53 feeding difficulties in infancy64 HP:0008872
54 abdominal wall muscle weakness64 HP:0009023
55 joint contracture of the hand64 HP:0009473
56 camptodactyly64 HP:0012385

MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.6ASCL1, EDNRB, FBN1, MED12, SKI, TGFB1
2MP:00053808.9EDN3, EDNRB, FBN1, MED12, RET, SKI
3MP:00107718.5ASCL1, EDN3, EDNRB, FBN1, KIF1A, NGF
4MP:00053848.2ASCL1, EDNRB, FBN1, GDNF, KIF18A, MED12
5MP:00053697.9EDNRB, FBN1, GDNF, NGF, RET, SKI
6MP:00053857.6EDNRB, FBN1, GDNF, MED12, NGF, RET
7MP:00053867.4ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF1A
8MP:00053787.3ASCL1, EDNRB, FBN1, GDNF, KIF1A, MED12
9MP:00107686.3ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF18A
10MP:00036315.6ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF1A

Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165

Search NIH Clinical Center for Shprintzen-Goldberg Syndrome


Cochrane evidence based reviews: goldberg-shprintzen megacolon syndrome

Genetic Tests for Shprintzen-Goldberg Syndrome

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Genetic tests related to Shprintzen-Goldberg Syndrome:

id Genetic test Affiliating Genes
1 Shprintzen-Goldberg Syndrome27 24 SKI

Anatomical Context for Shprintzen-Goldberg Syndrome

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MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

36
Skin, Skeletal muscle, Bone

Publications for Shprintzen-Goldberg Syndrome

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Articles related to Shprintzen-Goldberg Syndrome:

(show all 31)
idTitleAuthorsYear
1
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. (28328806)
2017
2
Shprintzen-Goldberg syndrome: a rare disorder. (27761171)
2016
3
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. (24611072)
2014
4
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. (24397373)
2014
5
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. (24736733)
2014
6
Double-valve surgery in Shprintzen-Goldberg syndrome. (24887819)
2014
7
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. (24357594)
2013
8
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. (23330586)
2013
9
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (23103230)
2012
10
Germline mosacism in Shprintzen-Goldberg syndrome. (22639450)
2012
11
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? (22653535)
2012
12
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (23023332)
2012
13
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. (21307714)
2011
14
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. (17979970)
2008
15
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. (17303258)
2007
16
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. (16970241)
2006
17
Molecular pathology of Shprintzen-Goldberg syndrome. (16333834)
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
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
21
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
22
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
23
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
24
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
25
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
26
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
27
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
28
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
29
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
30
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
31
Shprintzen-Goldberg Syndrome (20301454)
1993

Variations for Shprintzen-Goldberg Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Shprintzen-Goldberg Syndrome:

70 (show all 14)
id Symbol AA change Variation ID SNP ID
1SKIp.Leu21ArgVAR_071170
2SKIp.Ser31LeuVAR_071171
3SKIp.Leu32ProVAR_071172
4SKIp.Leu32ValVAR_071173rs387907304
5SKIp.Gly34CysVAR_071174rs387907306
6SKIp.Gly34AspVAR_071175rs387907305
7SKIp.Gly34SerVAR_071176rs387907306
8SKIp.Gly34ValVAR_071177rs387907305
9SKIp.Pro35GlnVAR_071178rs397514589
10SKIp.Pro35SerVAR_071179rs397514590
11SKIp.Gly116GluVAR_071182rs387907303
12SKIp.Gly117ArgVAR_071183
13SKIp.Ser28ThrVAR_071659
14SKIp.Gly34AlaVAR_071660

Clinvar genetic disease variations for Shprintzen-Goldberg Syndrome:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1KIF1BPNM_ 015634.3(KIF1BP): c.268C> T (p.Arg90Ter)SNVPathogenicrs121434514GRCh37Chr 10, 70748856: 70748856
2KIF1BPNM_ 015634.3(KIF1BP): c.250G> T (p.Glu84Ter)SNVPathogenicrs121434515GRCh37Chr 10, 70748838: 70748838
3KIF1BPNM_ 015634.3(KIF1BP): c.599C> A (p.Ser200Ter)SNVPathogenicrs730882150GRCh37Chr 10, 70764875: 70764875
4KIF1BPNM_ 015634.3(KIF1BP): c.604_ 605delAG (p.Arg202Ilefs)deletionPathogenicrs730882151GRCh37Chr 10, 70764880: 70764881
5KIF1BPNC_ 000010.11: g.(68989259_ 69000424)_ (69005125_ 69005731)deldeletionPathogenicGRCh38Chr 10, 68989259: 69005731
6SKINM_ 003036.3(SKI): c.352G> A (p.Glu118Lys)SNVLikely pathogenicrs869025525GRCh37Chr 1, 2160557: 2160557
7SKINM_ 003036.3(SKI): c.349G> C (p.Gly117Arg)SNVPathogenicrs869312901GRCh37Chr 1, 2160554: 2160554
8SKINM_ 003036.3(SKI): c.62T> G (p.Leu21Arg)SNVPathogenicrs869312902GRCh37Chr 1, 2160267: 2160267
9SKINM_ 003036.3(SKI): c.347G> A (p.Gly116Glu)SNVPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
10SKINM_ 003036.3(SKI): c.94C> G (p.Leu32Val)SNVPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
11SKINM_ 003036.3(SKI): c.101G> A (p.Gly34Asp)SNVPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
12SKINM_ 003036.3(SKI): c.100G> A (p.Gly34Ser)SNVPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
13SKINM_ 003036.3(SKI): c.100G> T (p.Gly34Cys)SNVPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
14SKINM_ 003036.3(SKI): c.283_ 291delGACCGCTCC (p.Asp95_ Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
15SKINM_ 003036.3(SKI): c.101G> T (p.Gly34Val)SNVPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
16SKINM_ 003036.3(SKI): c.280_ 291delTCCGACCGCTCC (p.Ser94_ Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
17SKINM_ 003036.3(SKI): c.104C> A (p.Pro35Gln)SNVPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
18SKINM_ 003036.3(SKI): c.103C> T (p.Pro35Ser)SNVPathogenicrs397514590GRCh37Chr 1, 2160308: 2160308

Expression for genes affiliated with Shprintzen-Goldberg Syndrome

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2ASCL1, RET, TGFB1
28.8ASCL1, GDNF, NGF

GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

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Cellular components related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonGO:00304249.4KIF1A, RET, STMN2, TGFB1
2neuronal cell bodyGO:00430258.7ASCL1, RET, STMN2, TGFB1

Biological processes related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1cellular response to insulin-like growth factor stimulusGO:199031410.7FBN1, TGFB1
2microtubule depolymerizationGO:000701910.5KIF18A, STMN1
3melanocyte differentiationGO:003031810.5EDN3, EDNRB
4positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.4GDNF, TGFB1
5peripheral nervous system developmentGO:000742210.4EDNRB, GDNF
6neural tube closureGO:000184310.4MED12, SKI, TGFB1
7negative regulation of microtubule polymerizationGO:003111510.3STMN1, STMN2
8oligodendrocyte developmentGO:001400310.2ASCL1, MED12, TGFB1
9posterior midgut developmentGO:000749710.2EDNRB, RET
10response to painGO:004826510.1EDNRB, RET
11regulation of microtubule polymerization or depolymerizationGO:003111010.1STMN1, STMN2
12sympathetic nervous system developmentGO:004848510.1ASCL1, GDNF
13microtubule-based movementGO:00070189.8KIF18A, KIF1A, NGF
14vasoconstrictionGO:00423109.8EDN3, EDNRB
15enteric nervous system developmentGO:00484849.8EDNRB, GDNF, RET
16neuron differentiationGO:00301829.7ASCL1, EDN3, RET
17vein smooth muscle contractionGO:00148269.7EDN3, EDNRB
18ureteric bud developmentGO:00016579.4GDNF, RET, TGFB1
19regulation of gene expressionGO:00104689.4ASCL1, EDN3, GDNF, TGFB1
20neural crest cell migrationGO:00017559.3EDN3, EDNRB, GDNF, RET
21positive regulation of transcription from RNA polymerase II promoterGO:00459449.1ASCL1, GDNF, KAT6B, MED12, SKI, TGFB1
22nervous system developmentGO:00073998.8ASCL1, EDNRB, GDNF, KIF1BP, RET, STMN1

Molecular functions related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055155.1ASCL1, EDNRB, FBN1, GDNF, KAT6B, KIF18A

Sources for Shprintzen-Goldberg Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet