MCID: SHP002
MIFTS: 53

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 50 22 46 23 24 52 12
Shprintzen-Goldberg Craniosynostosis Syndrome 50 22 46 23 24 68
Marfanoid Craniosynostosis Syndrome 46 23 52 68
Goldberg-Shprintzen Syndrome 50 11 13 25
Goldberg-Shprintzen Megacolon Syndrome 11 37 66
Shprintzen-Goldberg Marfanoid Syndrome 22 46 23
 
Marfanoid-Craniosynostosis Syndrome 22 46 24
Craniosynostosis with Arachnodactyly and Abdominal Hernias 46 68
Sgs 52 68
Marfanoid Disorder with Craniosynostosis Type 1 46
Marfanoid Disorder with Craniosynostosis Type I 68

Characteristics:

Orphanet epidemiological data:

52
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
shprintzen-goldberg syndrome:
Inheritance: autosomal dominant inheritance, sporadic


Classifications:



External Ids:

Disease Ontology11 DOID:0060481
Orphanet52 ORPHA2462
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C537328
UMLS via Orphanet67 C1321551
MedGen35 C1321551

Summaries for Shprintzen-Goldberg Syndrome

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OMIM:50 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). Affiliated tissues include skin, skeletal muscle and bone, and related mouse phenotypes are pigmentation and craniofacial.

Disease Ontology:11 A syndrome characterized by intellectual disability, specific facial gestalt and hirschsprung's disease (hscr). it is caused by homozygous mutation in the kiaa1279 gene on chromosome 10q21.1.

Genetics Home Reference:24 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:68 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:50 609460

GeneReviews summary 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1goldberg-shprintzen megacolon syndrome12.9
2schinzel giedion syndrome11.3
3genetic prion diseases10.6FBN1, TGFB1
4acromicric dysplasia10.5FBN1, TGFB1
5teeth, congenital absence of, with taurodontia and sparse hair10.3KAT6B, MED12
6craniosynostosis10.3
7aortic aneurysm10.3
8aneurysm10.3
9megacolon10.3
10axonal neuropathy10.3
11neuropathy10.3
12hirschsprung nail hypoplasia dysmorphism10.3EDN3, EDNRB
13conjunctival cancer10.2EDN3, EDNRB
14tetralogy of fallot10.2
15hydrocephalus10.2
16scoliosis10.2
17umbilical hernia10.2
18leukemia10.1FBN1, TGFB1
19insulinoma9.9
20crimean-congo hemorrhagic fever9.9
21hemoglobinopathy9.9
22hemorrhagic fever9.9
23endotheliitis9.9
24calabro syndrome9.7GDNF, RET
25placental insufficiency9.6EDNRB, RET
26hypogonadism cardiomyopathy9.6GDNF, RET
27diabetes mellitus, noninsulin-dependent, 59.5EDN3, EDNRB, RET
28homocystinuria9.5EDN3, EDNRB, RET
29central hypoventilation syndrome, congenital9.4EDNRB, GDNF, RET
30perineocele9.4GDNF, RET
31nonsyndromic holoprosencephaly9.4GDNF, RET
32multiple endocrine neoplasia iib9.4EDNRB, GDNF, RET
33vulvar melanoma9.4EDNRB, GDNF, RET
34pheochromocytoma9.1ASCL1, GDNF, RET
35medullary thyroid carcinoma, familial9.0ASCL1, EDNRB, GDNF, RET
36nonsyndromic congenital nail disorder 29.0EDN3, EDNRB, GDNF, RET
37gnathomiasis9.0EDN3, EDNRB, GDNF, RET
38postgastrectomy syndrome8.9EDN3, EDNRB, GDNF, RET
39pulmonary coin lesion8.6ASCL1, EDN3, EDNRB, GDNF, RET
40hirschsprung disease 18.6ASCL1, EDN3, EDNRB, GDNF, RET
41chronic infections, due to mbl deficiency8.3ASCL1, EDN3, EDNRB, GDNF, KIF1BP, RET
42shprintzen-goldberg syndrome5.4ASCL1, EDN3, EDNRB, FBN1, GDNF, KAT6B

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

HPO human phenotypes related to Shprintzen-Goldberg Syndrome:

(show all 102)
id Description Frequency HPO Source Accession
1 dolichocephaly hallmark (90%) HP:0000268
2 hypertelorism hallmark (90%) HP:0000316
3 micrognathia hallmark (90%) HP:0000347
4 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
5 downslanted palpebral fissures hallmark (90%) HP:0000494
6 telecanthus hallmark (90%) HP:0000506
7 proptosis hallmark (90%) HP:0000520
8 arachnodactyly hallmark (90%) HP:0001166
9 muscular hypotonia hallmark (90%) HP:0001252
10 disproportionate tall stature hallmark (90%) HP:0001519
11 pes planus hallmark (90%) HP:0001763
12 cognitive impairment hallmark (90%) HP:0100543
13 high palate 81.0811% HP:0000218
14 inguinal hernia 51.3514% HP:0000023
15 high forehead typical (50%) HP:0000348
16 strabismus typical (50%) HP:0000486
17 ptosis typical (50%) HP:0000508
18 pectus excavatum typical (50%) HP:0000767
19 pectus carinatum typical (50%) HP:0000768
20 communicating hydrocephalus typical (50%) HP:0001334
21 craniosynostosis typical (50%) HP:0001363
22 joint hypermobility typical (50%) HP:0001382
23 umbilical hernia typical (50%) HP:0001537
24 abnormality of the mitral valve typical (50%) HP:0001633
25 abnormality of the aortic valve typical (50%) HP:0001646
26 camptodactyly of toe typical (50%) HP:0001836
27 talipes typical (50%) HP:0001883
28 frontal bossing typical (50%) HP:0002007
29 scoliosis typical (50%) HP:0002650
30 camptodactyly of finger typical (50%) HP:0100490
31 cryptorchidism 10.8108% HP:0000028
32 cryptorchidism occasional (7.5%) HP:0000028
33 microcephaly occasional (7.5%) HP:0000252
34 abnormality of the pinna occasional (7.5%) HP:0000377
35 conductive hearing impairment occasional (7.5%) HP:0000405
36 anteverted nares occasional (7.5%) HP:0000463
37 myopia occasional (7.5%) HP:0000545
38 abnormality of the ribs occasional (7.5%) HP:0000772
39 narrow chest occasional (7.5%) HP:0000774
40 abnormality of the metaphyses occasional (7.5%) HP:0000944
41 hyperextensible skin occasional (7.5%) HP:0000974
42 limitation of joint mobility occasional (7.5%) HP:0001376
43 apnea occasional (7.5%) HP:0002104
44 ventriculomegaly occasional (7.5%) HP:0002119
45 arnold-chiari malformation occasional (7.5%) HP:0002308
46 genu valgum occasional (7.5%) HP:0002857
47 elbow dislocation occasional (7.5%) HP:0003042
48 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
49 reduced bone mineral density occasional (7.5%) HP:0004349
50 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
51 genu valgum rare (5%) HP:0002857
52 narrow palate HP:0000189
53 hydrocephalus HP:0000238
54 microcephaly HP:0000252
55 wide anterior fontanel HP:0000260
56 dolichocephaly HP:0000268
57 hypertelorism HP:0000316
58 hypoplasia of the maxilla HP:0000327
59 micrognathia HP:0000347
60 low-set, posteriorly rotated ears HP:0000368
61 abnormality of the pinna HP:0000377
62 conductive hearing impairment HP:0000405
63 anteverted nares HP:0000463
64 strabismus HP:0000486
65 downslanted palpebral fissures HP:0000494
66 telecanthus HP:0000506
67 ptosis HP:0000508
68 myopia HP:0000545
69 shallow orbits HP:0000586
70 dental malocclusion HP:0000689
71 pectus excavatum HP:0000767
72 pectus carinatum HP:0000768
73 thin ribs HP:0000883
74 lateral clavicle hook HP:0000895
75 osteopenia HP:0000938
76 hyperextensible skin HP:0000974
77 arachnodactyly HP:0001166
78 intellectual disability HP:0001249
79 muscular hypotonia HP:0001252
80 global developmental delay HP:0001263
81 craniosynostosis HP:0001363
82 joint laxity HP:0001388
83 umbilical hernia HP:0001537
84 mitral valve prolapse HP:0001634
85 aortic dilatation HP:0001724
86 talipes equinovarus HP:0001762
87 pes planus HP:0001763
88 metatarsus adductus HP:0001840
89 frontal bossing HP:0002007
90 gastroesophageal reflux HP:0002020
91 scoliosis HP:0002650
92 genu recurvatum HP:0002816
93 obstructive sleep apnea HP:0002870
94 metaphyseal widening HP:0003016
95 dislocated radial head HP:0003083
96 minimal subcutaneous fat HP:0003717
97 supernumerary ribs HP:0005815
98 arnold-chiari type i malformation HP:0007099
99 c1-c2 vertebral abnormality HP:0008440
100 feeding difficulties in infancy HP:0008872
101 abdominal wall muscle weakness HP:0009023
102 joint contracture of the hand 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 ConditionsActive, not recruitingNCT01322165

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 Syndrome25 23 SKI

Anatomical Context for Shprintzen-Goldberg Syndrome

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MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5ASCL1, EDN3, EDNRB, FBN1
2MP:00053829.1ASCL1, EDNRB, FBN1, MED12, SKI, TGFB1
3MP:00053808.0EDN3, EDNRB, FBN1, MED12, RET, SKI
4MP:00053697.8EDNRB, FBN1, GDNF, RET, SKI, STMN1
5MP:00053847.2ASCL1, EDNRB, FBN1, GDNF, KIF18A, MED12
6MP:00053797.2ASCL1, EDNRB, FBN1, GDNF, KIF18A, RET
7MP:00053857.1EDNRB, FBN1, GDNF, MED12, RET, SKI
8MP:00053786.9ASCL1, EDNRB, FBN1, GDNF, KIF1A, MED12
9MP:00036315.9ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF1A
10MP:00107685.9ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF18A

Publications for Shprintzen-Goldberg Syndrome

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Articles related to Shprintzen-Goldberg Syndrome:

(show all 29)
idTitleAuthorsYear
1
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. (24397373)
2014
2
Double-valve surgery in Shprintzen-Goldberg syndrome. (24887819)
2014
3
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. (24736733)
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:

68 (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)single nucleotide variantPathogenicrs121434514GRCh37Chr 10, 70748856: 70748856
2KIF1BPNM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs121434515GRCh37Chr 10, 70748838: 70748838
3KIF1BPNM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs730882150GRCh37Chr 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)single nucleotide variantLikely pathogenicrs869025525GRCh37Chr 1, 2160557: 2160557
7SKINM_003036.3(SKI): c.349G> C (p.Gly117Arg)single nucleotide variantPathogenicrs869312901GRCh37Chr 1, 2160554: 2160554
8SKINM_003036.3(SKI): c.62T> G (p.Leu21Arg)single nucleotide variantPathogenicrs869312902GRCh38Chr 1, 2228828: 2228828
9SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
10SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
11SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
12SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
13SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 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)single nucleotide variantPathogenicrs387907305GRCh37Chr 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)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
18SKINM_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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Search GEO for disease gene expression data for Shprintzen-Goldberg Syndrome.

Pathways for genes affiliated with Shprintzen-Goldberg Syndrome

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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
1neuronal cell bodyGO:00430258.5ASCL1, RET, STMN2, TGFB1
2axonGO:00304248.2KIF1A, 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:199031410.4FBN1, TGFB1
2microtubule depolymerizationGO:000701910.4KIF18A, STMN1
3vein smooth muscle contractionGO:001482610.4EDN3, EDNRB
4face morphogenesisGO:006032510.3SKI, TGFB1
5endoderm developmentGO:000749210.3MED12, TGFB1
6vasoconstrictionGO:004231010.2EDN3, EDNRB
7positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.2GDNF, TGFB1
8melanocyte differentiationGO:003031810.2EDN3, EDNRB
9peripheral nervous system developmentGO:000742210.1EDNRB, GDNF
10metanephros developmentGO:000165610.1FBN1, GDNF
11sympathetic nervous system developmentGO:004848510.1ASCL1, GDNF
12negative regulation of microtubule polymerizationGO:003111510.0STMN1, STMN2
13posterior midgut developmentGO:000749710.0EDNRB, RET
14oligodendrocyte developmentGO:001400310.0ASCL1, MED12, TGFB1
15response to painGO:00482659.8EDNRB, RET
16enteric nervous system developmentGO:00484849.4EDNRB, GDNF, RET
17ureteric bud developmentGO:00016579.2GDNF, RET, TGFB1
18regulation of gene expressionGO:00104688.9ASCL1, EDN3, GDNF, TGFB1
19neural crest cell migrationGO:00017558.7EDN3, EDNRB, GDNF, RET
20neuron differentiationGO:00301828.7ASCL1, EDN3, RET
21positive regulation of transcription from RNA polymerase II promoterGO:00459448.2ASCL1, GDNF, KAT6B, MED12, SKI, TGFB1
22nervous system developmentGO:00073997.8ASCL1, EDNRB, GDNF, KIF1BP, RET

Sources for Shprintzen-Goldberg Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet