MCID: SHP002
MIFTS: 54

Shprintzen-Goldberg Syndrome 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 51 23 47 24 25 53 12
Shprintzen-Goldberg Craniosynostosis Syndrome 51 23 47 24 25 69
Marfanoid Craniosynostosis Syndrome 47 24 53 69
Goldberg-Shprintzen Syndrome 51 11 26 13
Goldberg-Shprintzen Megacolon Syndrome 11 38 67
Shprintzen-Goldberg Marfanoid Syndrome 23 47 24
 
Marfanoid-Craniosynostosis Syndrome 23 47 25
Craniosynostosis with Arachnodactyly and Abdominal Hernias 47 69
Sgs 53 69
Marfanoid Disorder with Craniosynostosis Type 1 47
Marfanoid Disorder with Craniosynostosis Type I 69

Characteristics:

Orphanet epidemiological data:

53
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
shprintzen-goldberg syndrome:
Inheritance: autosomal dominant inheritance, sporadic

GeneReviews:

23
Penetrance: penetrance is unknown...


Classifications:



External Ids:

Disease Ontology11 DOID:0060481
Orphanet53 ORPHA2462
ICD10 via Orphanet30 Q87.8
MESH via Orphanet39 C537328
UMLS via Orphanet68 C1321551
MedGen36 C1321551

Summaries for Shprintzen-Goldberg Syndrome

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OMIM:51 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 dolichocephaly, hypertelorism and micrognathia. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (SKI Proto-Oncogene), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and SIDS Susceptibility Pathways. 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:69 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:51 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1goldberg-shprintzen megacolon syndrome12.8
2schinzel giedion syndrome10.8
3genetic prion diseases10.4FBN1, TGFB1
4hirschsprung nail hypoplasia dysmorphism10.2EDN3, EDNRB
5craniosynostosis10.2
6aortic aneurysm10.2
7aneurysm10.2
8teeth, congenital absence of, with taurodontia and sparse hair10.2KAT6B, MED12
9megacolon10.1
10axonal neuropathy10.1
11neuropathy10.1
12acromicric dysplasia10.1FBN1, TGFB1
13tetralogy of fallot10.0
14hydrocephalus10.0
15scoliosis10.0
16umbilical hernia10.0
17conjunctival cancer10.0EDN3, EDNRB
18calabro syndrome9.9GDNF, RET
19hypogonadism cardiomyopathy9.8GDNF, RET
20diabetes mellitus, noninsulin-dependent, 59.8EDN3, EDNRB, RET
21insulinoma9.8
22crimean-congo hemorrhagic fever9.8
23hemoglobinopathy9.8
24hemorrhagic fever9.8
25endotheliitis9.8
26central hypoventilation syndrome, congenital9.7EDNRB, GDNF, RET
27multiple endocrine neoplasia iib9.7EDNRB, GDNF, RET
28vulvar melanoma9.7EDNRB, GDNF, RET
29degeneration of macula and posterior pole9.5GDNF, NGF, TGFB1
30medullary thyroid carcinoma, familial9.4ASCL1, EDNRB, GDNF, RET
31nonsyndromic congenital nail disorder 29.4EDN3, EDNRB, GDNF, RET
32gnathomiasis9.4EDN3, EDNRB, GDNF, RET
33postgastrectomy syndrome9.3EDN3, EDNRB, GDNF, RET
34pulmonary coin lesion9.1ASCL1, EDN3, EDNRB, GDNF, RET
35hirschsprung disease 19.1ASCL1, EDN3, EDNRB, GDNF, RET
36pheochromocytoma8.9ASCL1, GDNF, NGF, RET
37chronic infections, due to mbl deficiency8.8ASCL1, EDN3, EDNRB, GDNF, KIF1BP, RET

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



Diseases related to shprintzen-goldberg syndrome

Symptoms 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:

 63 (show all 77)
id Description HPO Frequency HPO Source Accession
1 dolichocephaly63 hallmark (90%) HP:0000268
2 hypertelorism63 hallmark (90%) HP:0000316
3 micrognathia63 hallmark (90%) HP:0000347
4 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
5 downslanted palpebral fissures63 hallmark (90%) HP:0000494
6 telecanthus63 hallmark (90%) HP:0000506
7 proptosis63 hallmark (90%) HP:0000520
8 arachnodactyly63 hallmark (90%) HP:0001166
9 muscular hypotonia63 hallmark (90%) HP:0001252
10 disproportionate tall stature63 hallmark (90%) HP:0001519
11 pes planus63 hallmark (90%) HP:0001763
12 cognitive impairment63 hallmark (90%) HP:0100543
13 high palate63 81.0811% HP:0000218
14 inguinal hernia63 51.3514% HP:0000023
15 high forehead63 typical (50%) HP:0000348
16 strabismus63 typical (50%) HP:0000486
17 ptosis63 typical (50%) HP:0000508
18 pectus excavatum63 typical (50%) HP:0000767
19 pectus carinatum63 typical (50%) HP:0000768
20 communicating hydrocephalus63 typical (50%) HP:0001334
21 craniosynostosis63 typical (50%) HP:0001363
22 joint hypermobility63 typical (50%) HP:0001382
23 umbilical hernia63 typical (50%) HP:0001537
24 abnormality of the mitral valve63 typical (50%) HP:0001633
25 abnormality of the aortic valve63 typical (50%) HP:0001646
26 camptodactyly of toe63 typical (50%) HP:0001836
27 talipes63 typical (50%) HP:0001883
28 frontal bossing63 typical (50%) HP:0002007
29 scoliosis63 typical (50%) HP:0002650
30 camptodactyly of finger63 typical (50%) HP:0100490
31 cryptorchidism63 10.8108% HP:0000028
32 microcephaly63 occasional (7.5%) HP:0000252
33 abnormality of the pinna63 occasional (7.5%) HP:0000377
34 conductive hearing impairment63 occasional (7.5%) HP:0000405
35 anteverted nares63 occasional (7.5%) HP:0000463
36 myopia63 occasional (7.5%) HP:0000545
37 abnormality of the ribs63 occasional (7.5%) HP:0000772
38 narrow chest63 occasional (7.5%) HP:0000774
39 abnormality of the metaphyses63 occasional (7.5%) HP:0000944
40 hyperextensible skin63 occasional (7.5%) HP:0000974
41 limitation of joint mobility63 occasional (7.5%) HP:0001376
42 apnea63 occasional (7.5%) HP:0002104
43 ventriculomegaly63 occasional (7.5%) HP:0002119
44 arnold-chiari malformation63 occasional (7.5%) HP:0002308
45 genu valgum63 occasional (7.5%) HP:0002857
46 elbow dislocation63 occasional (7.5%) HP:0003042
47 abnormal form of the vertebral bodies63 occasional (7.5%) HP:0003312
48 reduced bone mineral density63 occasional (7.5%) HP:0004349
49 aplasia/hypoplasia of the abdominal wall musculature63 occasional (7.5%) HP:0010318
50 narrow palate63 HP:0000189
51 hydrocephalus63 HP:0000238
52 wide anterior fontanel63 HP:0000260
53 hypoplasia of the maxilla63 HP:0000327
54 shallow orbits63 HP:0000586
55 dental malocclusion63 HP:0000689
56 thin ribs63 HP:0000883
57 lateral clavicle hook63 HP:0000895
58 osteopenia63 HP:0000938
59 intellectual disability63 HP:0001249
60 global developmental delay63 HP:0001263
61 joint laxity63 HP:0001388
62 mitral valve prolapse63 HP:0001634
63 aortic dilatation63 HP:0001724
64 talipes equinovarus63 HP:0001762
65 metatarsus adductus63 HP:0001840
66 gastroesophageal reflux63 HP:0002020
67 genu recurvatum63 HP:0002816
68 obstructive sleep apnea63 HP:0002870
69 metaphyseal widening63 HP:0003016
70 dislocated radial head63 HP:0003083
71 minimal subcutaneous fat63 HP:0003717
72 supernumerary ribs63 HP:0005815
73 arnold-chiari type i malformation63 HP:0007099
74 c1-c2 vertebral abnormality63 HP:0008440
75 feeding difficulties in infancy63 HP:0008872
76 abdominal wall muscle weakness63 HP:0009023
77 joint contracture of the hand63 HP:0009473

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 Syndrome26 24 SKI

Anatomical Context for Shprintzen-Goldberg Syndrome

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MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

35
Skin, Skeletal muscle, Bone

Animal Models for Shprintzen-Goldberg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

40
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

Publications for Shprintzen-Goldberg Syndrome

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Articles related to Shprintzen-Goldberg Syndrome:

(show all 29)
idTitleAuthorsYear
1
Shprintzen-Goldberg syndrome: a rare disorder. (27761171)
2016
2
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. (24397373)
2014
3
Double-valve surgery in Shprintzen-Goldberg syndrome. (24887819)
2014
4
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. (24611072)
2014
5
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. (24357594)
2013
6
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. (23330586)
2013
7
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? (22653535)
2012
8
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (23023332)
2012
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
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. (21307714)
2011
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
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 syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
17
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. (15884042)
2005
18
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
19
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
20
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
21
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
22
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
23
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
24
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
25
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
26
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
27
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
28
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
29
Shprintzen-Goldberg Syndrome (20301454)
1993

Variations for Shprintzen-Goldberg Syndrome

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

69 (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_000010.11deletionPathogenicGRCh38Chr 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
18.8ASCL1, GDNF, NGF
28.7ASCL1, NGF, RET

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:00304248.8KIF1A, RET, STMN2, TGFB1
2neuronal cell bodyGO:00430258.6ASCL1, RET, STMN2, TGFB1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1microtubule depolymerizationGO:000701910.5KIF18A, STMN1
2cellular response to insulin-like growth factor stimulusGO:199031410.5FBN1, TGFB1
3vein smooth muscle contractionGO:001482610.5EDN3, EDNRB
4positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3GDNF, TGFB1
5vasoconstrictionGO:004231010.3EDN3, EDNRB
6endoderm developmentGO:000749210.3MED12, TGFB1
7melanocyte differentiationGO:003031810.3EDN3, EDNRB
8posterior midgut developmentGO:000749710.2EDNRB, RET
9sympathetic nervous system developmentGO:004848510.2ASCL1, GDNF
10peripheral nervous system developmentGO:000742210.2EDNRB, GDNF
11negative regulation of microtubule polymerizationGO:003111510.1STMN1, STMN2
12oligodendrocyte developmentGO:001400310.1ASCL1, MED12, TGFB1
13response to painGO:004826510.0EDNRB, RET
14enteric nervous system developmentGO:00484849.7EDNRB, GDNF, RET
15ureteric bud developmentGO:00016579.5GDNF, RET, TGFB1
16neuron differentiationGO:00301829.1ASCL1, EDN3, RET
17neural crest cell migrationGO:00017559.1EDN3, EDNRB, GDNF, RET
18regulation of gene expressionGO:00104688.8ASCL1, EDN3, GDNF, TGFB1
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.5ASCL1, GDNF, KAT6B, MED12, SKI, TGFB1
20nervous system developmentGO:00073998.4ASCL1, EDNRB, GDNF, KIF1BP, RET

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080838.9GDNF, NGF, TGFB1

Sources for Shprintzen-Goldberg Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet