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

Aliases & Descriptions for Shprintzen-Goldberg Syndrome:

Name: Shprintzen-Goldberg Syndrome 54 23 50 24 25 56 13
Shprintzen-Goldberg Craniosynostosis Syndrome 54 23 50 24 25 66
Marfanoid Craniosynostosis Syndrome 50 24 56 66
Goldberg-Shprintzen Syndrome 54 12 29 14
Goldberg-Shprintzen Megacolon Syndrome 12 42 69
Shprintzen-Goldberg Marfanoid Syndrome 23 50 24
Marfanoid-Craniosynostosis Syndrome 23 50 25
Craniosynostosis with Arachnodactyly and Abdominal Hernias 50 66
Sgs 56 66
Marfanoid Disorder with Craniosynostosis Type 1 50
Marfanoid Disorder with Craniosynostosis Type I 66

Characteristics:

Orphanet epidemiological data:

56
shprintzen-goldberg syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

23
shprintzen-goldberg syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance Penetrance is unknown...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060481
Orphanet 56 ORPHA2462
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 43 C537328
UMLS via Orphanet 70 C1321551
MedGen 40 C1321551
UMLS 69 C1836123

Summaries for Shprintzen-Goldberg Syndrome

OMIM : 54 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 joint laxity, hypertelorism and pectus excavatum. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (SKI Proto-Oncogene), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Dopaminergic Neurogenesis. Affiliated tissues include skin, skeletal muscle and bone, and related phenotypes are behavior/neurological and cardiovascular system

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 : 66 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.

GeneReviews: NBK1277

Related Diseases for Shprintzen-Goldberg Syndrome

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

(show all 39)
id Related Disease Score Top Affiliating Genes
1 goldberg-shprintzen megacolon syndrome 12.8
2 schinzel giedion syndrome 11.6
3 craniosynostosis 10.3
4 heritable thoracic aortic disease 10.2 FBN1 TGFB1
5 aneurysm 10.2
6 aortic aneurysm 10.2
7 epiphyseal dysplasia, multiple, 3 10.2 EDN3 EDNRB
8 geleophysic dysplasia 2 10.1 FBN1 TGFB1
9 megacolon 10.1
10 axonal neuropathy 10.1
11 neuropathy 10.1
12 wdha syndrome 10.1 EDN3 EDNRB
13 waardenburg syndrome, type 4a 10.1 EDNRB RET
14 intellectual disability 10.0
15 tetralogy of fallot 10.0
16 hydrocephalus 10.0
17 scoliosis 10.0
18 umbilical hernia 10.0
19 oculocerebral syndrome with hypopigmentation 10.0 KAT6B MED12
20 meigel disease 10.0 GDNF RET
21 ceroid lipofuscinosis, neuronal, 5 9.9 EDN3 EDNRB RET
22 hypoparathyroidism-intellectual disability-dysmorphism syndrome 9.9 GDNF RET
23 hirschsprung disease 1 9.9 EDNRB GDNF RET
24 sweat gland cancer 9.9 EDNRB GDNF RET
25 hemopericardium 9.9 ASCL1 EDNRB NGF
26 myopathy of extraocular muscle 9.9 EDN3 EDNRB RET
27 neutropenia, severe congenital, 5, autosomal recessive 9.8 ASCL1 EDNRB GDNF RET
28 hemorrhagic fever 9.8
29 endotheliitis 9.8
30 insulinoma 9.8
31 crimean-congo hemorrhagic fever 9.8
32 hemoglobinopathy 9.8
33 ariboflavinosis 9.8 EDN3 EDNRB GDNF RET
34 spinal meningioma 9.7 EDN3 EDNRB GDNF KIF1BP RET
35 connective tissue cancer 9.6 GDNF NGF RET TGFB1
36 skin pilomatrix carcinoma 9.6 ASCL1 EDN3 EDNRB GDNF RET
37 chronic infections, due to mbl deficiency 9.6 ASCL1 EDN3 EDNRB GDNF RET
38 pheochromocytoma 9.5 ASCL1 GDNF NGF RET
39 tooth agenesis, selective, 5 9.5 ASCL1 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

Symptoms by clinical synopsis from OMIM:

182212

Clinical features from OMIM:

182212 609460

Human phenotypes related to Shprintzen-Goldberg Syndrome:

32 (show top 50) (show all 56)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 hypertelorism 32 HP:0000316
3 pectus excavatum 32 HP:0000767
4 frontal bossing 32 HP:0002007
5 genu valgum 32 HP:0002857
6 high palate 32 HP:0000218
7 hydrocephalus 32 HP:0000238
8 ptosis 32 HP:0000508
9 osteopenia 32 HP:0000938
10 intellectual disability 32 HP:0001249
11 muscular hypotonia 32 HP:0001252
12 scoliosis 32 HP:0002650
13 inguinal hernia 32 HP:0000023
14 narrow palate 32 HP:0000189
15 dental malocclusion 32 HP:0000689
16 global developmental delay 32 HP:0001263
17 pectus carinatum 32 HP:0000768
18 umbilical hernia 32 HP:0001537
19 pes planus 32 HP:0001763
20 microcephaly 32 HP:0000252
21 anteverted nares 32 HP:0000463
22 gastroesophageal reflux 32 HP:0002020
23 feeding difficulties in infancy 32 HP:0008872
24 abdominal wall muscle weakness 32 HP:0009023
25 micrognathia 32 HP:0000347
26 strabismus 32 HP:0000486
27 dolichocephaly 32 HP:0000268
28 genu recurvatum 32 HP:0002816
29 cryptorchidism 32 HP:0000028
30 metatarsus adductus 32 HP:0001840
31 abnormality of the pinna 32 HP:0000377
32 aortic dilatation 32 HP:0001724
33 telecanthus 32 HP:0000506
34 myopia 32 HP:0000545
35 thin ribs 32 HP:0000883
36 hypoplasia of the maxilla 32 HP:0000327
37 low-set, posteriorly rotated ears 32 HP:0000368
38 arachnodactyly 32 HP:0001166
39 mitral valve prolapse 32 HP:0001634
40 downslanted palpebral fissures 32 HP:0000494
41 conductive hearing impairment 32 HP:0000405
42 talipes equinovarus 32 HP:0001762
43 obstructive sleep apnea 32 HP:0002870
44 craniosynostosis 32 HP:0001363
45 hyperextensible skin 32 HP:0000974
46 supernumerary ribs 32 HP:0005815
47 wide anterior fontanel 32 HP:0000260
48 camptodactyly 32 HP:0012385
49 dislocated radial head 32 HP:0003083
50 lateral clavicle hook 32 HP:0000895

MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ASCL1 EDN3 EDNRB FBN1 GDNF KIF1A
2 cardiovascular system MP:0005385 10.11 NGF RET SKI STMN1 TGFB1 EDNRB
3 cellular MP:0005384 10.09 KIF18A MED12 RET SKI TGFB1 ASCL1
4 growth/size/body region MP:0005378 10.02 ASCL1 EDNRB FBN1 GDNF KIF1A MED12
5 mortality/aging MP:0010768 9.97 ASCL1 EDN3 EDNRB FBN1 GDNF KIF18A
6 embryo MP:0005380 9.91 EDN3 EDNRB FBN1 MED12 RET SKI
7 craniofacial MP:0005382 9.88 ASCL1 EDNRB FBN1 MED12 TGFB1 SKI
8 integument MP:0010771 9.8 ASCL1 EDN3 EDNRB FBN1 KIF1A NGF
9 muscle MP:0005369 9.56 EDNRB FBN1 GDNF NGF RET SKI
10 nervous system MP:0003631 9.4 RET SKI STMN1 TGFB1 ASCL1 EDN3

Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165

Search NIH Clinical Center for Shprintzen-Goldberg Syndrome

Cochrane evidence based reviews: goldberg-shprintzen megacolon syndrome

Genetic Tests for Shprintzen-Goldberg Syndrome

Genetic tests related to Shprintzen-Goldberg Syndrome:

id Genetic test Affiliating Genes
1 Shprintzen-Goldberg Syndrome 29 24 SKI

Anatomical Context for Shprintzen-Goldberg Syndrome

MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

39
Skin, Skeletal Muscle, Bone

Publications for Shprintzen-Goldberg Syndrome

Articles related to Shprintzen-Goldberg Syndrome:

(show all 31)
id Title Authors Year
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

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

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 SKI p.Leu21Arg VAR_071170
2 SKI p.Ser31Leu VAR_071171
3 SKI p.Leu32Pro VAR_071172
4 SKI p.Leu32Val VAR_071173 rs387907304
5 SKI p.Gly34Cys VAR_071174 rs387907306
6 SKI p.Gly34Asp VAR_071175 rs387907305
7 SKI p.Gly34Ser VAR_071176 rs387907306
8 SKI p.Gly34Val VAR_071177 rs387907305
9 SKI p.Pro35Gln VAR_071178 rs397514589
10 SKI p.Pro35Ser VAR_071179 rs397514590
11 SKI p.Gly116Glu VAR_071182 rs387907303
12 SKI p.Gly117Arg VAR_071183
13 SKI p.Ser28Thr VAR_071659
14 SKI p.Gly34Ala VAR_071660

ClinVar genetic disease variations for Shprintzen-Goldberg Syndrome:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 KIF1BP NM_015634.3(KIF1BP): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs121434514 GRCh37 Chromosome 10, 70748856: 70748856
2 KIF1BP NM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter) single nucleotide variant Pathogenic rs121434515 GRCh37 Chromosome 10, 70748838: 70748838
3 SKI NM_003036.3(SKI): c.347G> A (p.Gly116Glu) single nucleotide variant Pathogenic rs387907303 GRCh37 Chromosome 1, 2160552: 2160552
4 SKI NM_003036.3(SKI): c.94C> G (p.Leu32Val) single nucleotide variant Pathogenic rs387907304 GRCh37 Chromosome 1, 2160299: 2160299
5 SKI NM_003036.3(SKI): c.101G> A (p.Gly34Asp) single nucleotide variant Pathogenic rs387907305 GRCh37 Chromosome 1, 2160306: 2160306
6 SKI NM_003036.3(SKI): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs387907306 GRCh37 Chromosome 1, 2160305: 2160305
7 SKI NM_003036.3(SKI): c.100G> T (p.Gly34Cys) single nucleotide variant Pathogenic rs387907306 GRCh37 Chromosome 1, 2160305: 2160305
8 SKI NM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del) deletion Pathogenic rs398122889 GRCh37 Chromosome 1, 2160488: 2160496
9 SKI NM_003036.3(SKI): c.101G> T (p.Gly34Val) single nucleotide variant Pathogenic rs387907305 GRCh37 Chromosome 1, 2160306: 2160306
10 SKI NM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del) deletion Pathogenic rs398122914 GRCh37 Chromosome 1, 2160485: 2160496
11 SKI NM_003036.3(SKI): c.104C> A (p.Pro35Gln) single nucleotide variant Pathogenic rs397514589 GRCh37 Chromosome 1, 2160309: 2160309
12 SKI NM_003036.3(SKI): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs397514590 GRCh37 Chromosome 1, 2160308: 2160308
13 KIF1BP NM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter) single nucleotide variant Pathogenic rs730882150 GRCh37 Chromosome 10, 70764875: 70764875
14 KIF1BP NM_015634.3(KIF1BP): c.604_605delAG (p.Arg202Ilefs) deletion Pathogenic rs730882151 GRCh37 Chromosome 10, 70764880: 70764881
15 KIF1BP NC_000010.11 deletion Pathogenic GRCh38 Chromosome 10, 68989259: 69005731
16 SKI NM_003036.3(SKI): c.352G> A (p.Glu118Lys) single nucleotide variant Likely pathogenic rs869025525 GRCh37 Chromosome 1, 2160557: 2160557
17 SKI NM_003036.3(SKI): c.62T> G (p.Leu21Arg) single nucleotide variant Pathogenic rs869312902 GRCh37 Chromosome 1, 2160267: 2160267
18 SKI NM_003036.3(SKI): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs869312901 GRCh37 Chromosome 1, 2160554: 2160554

Expression for Shprintzen-Goldberg Syndrome

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

Pathways for Shprintzen-Goldberg Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.03 ASCL1 GDNF NGF
2 10.28 ASCL1 RET TGFB1

GO Terms for Shprintzen-Goldberg Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.26 ASCL1 RET STMN2 TGFB1
2 axon GO:0030424 8.92 KIF1A RET STMN2 TGFB1

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 ASCL1 EDNRB GDNF KIF1BP RET STMN1
2 neuron differentiation GO:0030182 9.77 ASCL1 EDN3 RET
3 regulation of gene expression GO:0010468 9.73 ASCL1 EDN3 GDNF TGFB1
4 microtubule-based movement GO:0007018 9.7 KIF18A KIF1A NGF
5 neural tube closure GO:0001843 9.65 MED12 SKI TGFB1
6 peripheral nervous system development GO:0007422 9.61 EDNRB GDNF
7 response to pain GO:0048265 9.59 EDNRB RET
8 melanocyte differentiation GO:0030318 9.58 EDN3 EDNRB
9 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 GDNF TGFB1
10 vasoconstriction GO:0042310 9.57 EDN3 EDNRB
11 sympathetic nervous system development GO:0048485 9.56 ASCL1 GDNF
12 negative regulation of microtubule polymerization GO:0031115 9.54 STMN1 STMN2
13 ureteric bud development GO:0001657 9.54 GDNF RET TGFB1
14 microtubule depolymerization GO:0007019 9.51 KIF18A STMN1
15 regulation of microtubule polymerization or depolymerization GO:0031110 9.49 STMN1 STMN2
16 cellular response to insulin-like growth factor stimulus GO:1990314 9.46 FBN1 TGFB1
17 vein smooth muscle contraction GO:0014826 9.4 EDN3 EDNRB
18 oligodendrocyte development GO:0014003 9.33 ASCL1 MED12 TGFB1
19 posterior midgut development GO:0007497 9.26 EDNRB RET
20 enteric nervous system development GO:0048484 9.13 EDNRB GDNF RET
21 neural crest cell migration GO:0001755 8.92 EDN3 EDNRB GDNF RET
22 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.02 ASCL1 GDNF KAT6B MED12 SKI TGFB1

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.47 ASCL1 EDNRB FBN1 GDNF KAT6B KIF18A

Sources for Shprintzen-Goldberg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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