MCID: SHP002
MIFTS: 55

Shprintzen-Goldberg Syndrome

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

Aliases & Classifications for Shprintzen-Goldberg Syndrome

MalaCards integrated aliases for Shprintzen-Goldberg Syndrome:

Name: Shprintzen-Goldberg Syndrome 54 23 50 24 25 56 29 13
Shprintzen-Goldberg Craniosynostosis Syndrome 23 50 24 25 71
Marfanoid Craniosynostosis Syndrome 50 24 56 71
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 71
Goldberg-Shprintzen Syndrome 12 14
Sgs 56 71
Marfanoid Disorder with Craniosynostosis Type 1 50
Marfanoid Disorder with Craniosynostosis Type I 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
shprintzen-goldberg syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance Penetrance is unknown...

Classifications:



Summaries for Shprintzen-Goldberg Syndrome

OMIM : 54
Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic facies involving hypertelorism, downslanting palpebral fissures, high-arched palate, micrognathia, and low-set posteriorly rotated ears. Other commonly reported manifestations include hypotonia, developmental delay, and inguinal or umbilical hernia; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility (summary by Robinson et al., 2005). There is considerable phenotypic overlap between SGS and Marfan syndrome (MFS; 154700) and Loeys-Dietz syndrome (LDS; see 609192): SGS includes virtually all of the craniofacial, skeletal, skin, and cardiovascular manifestations of MFS and LDS, with the additional findings of mental retardation and severe skeletal muscle hypotonia (summary by Doyle et al., 2012). (182212)

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 scoliosis, strabismus and umbilical hernia. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (SKI Proto-Oncogene), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, skeletal muscle and bone, and related phenotypes are behavior/neurological and cardiovascular system

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2462disease definitionshprintzen-goldberg syndrome (sgs) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.visit the orphanet disease page for more resources. last updated: 10/1/2016

UniProtKB/Swiss-Prot : 71 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.

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.

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 42)
id Related Disease Score Top Affiliating Genes
1 goldberg-shprintzen megacolon syndrome 12.8
2 schinzel giedion syndrome 11.6
3 welander distal myopathy, swedish type 11.0
4 hyperinsulinism-hyperammonemia syndrome 10.6 KIF1BP SKI
5 giant axonal neuropathy 10.5 FBN1 TGFB1
6 acromicric dysplasia 10.5 FBN1 TGFB1
7 wallerian degeneration 10.3 EDN3 EDNRB
8 craniosynostosis 10.3
9 teeth, congenital absence of, with taurodontia and sparse hair 10.2 KAT6B MED12
10 aneurysm 10.2
11 aortic aneurysm 10.2
12 megacolon 10.1
13 axonal neuropathy 10.1
14 neuropathy 10.1
15 tetralogy of fallot 10.0
16 intellectual disability 10.0
17 hydrocephalus 10.0
18 scoliosis 10.0
19 umbilical hernia 10.0
20 cervicitis 10.0
21 biliary papillomatosis 10.0 EDN3 EDNRB
22 megalocytic interstitial nephritis 10.0 GDNF RET
23 hypogonadotropic hypogonadism without anosmia, x-linked 9.9 GDNF RET
24 diabetes mellitus, noninsulin-dependent, 5 9.8 EDN3 EDNRB RET
25 endotheliitis 9.8
26 insulinoma 9.8
27 crimean-congo hemorrhagic fever 9.8
28 hemoglobinopathy 9.8
29 hemorrhagic fever 9.8
30 central hypoventilation syndrome, congenital 9.7 EDNRB GDNF RET
31 sweat gland cancer 9.7 EDNRB GDNF RET
32 tyrosinemia 9.7 EDN3 EDNRB RET
33 hemopericardium 9.7 ASCL1 EDNRB NGF
34 medullary thyroid carcinoma, familial 9.6 EDNRB GDNF RET
35 paralytic ileus 9.3 EDN3 EDNRB GDNF RET
36 ileocolitis 9.2 GDNF NGF
37 spinal meningioma 9.1 EDN3 EDNRB GDNF KIF1BP RET
38 connective tissue cancer 9.0 GDNF NGF RET TGFB1
39 wolffian duct adenocarcinoma 8.9 ASCL1 EDN3 EDNRB GDNF RET
40 hirschsprung disease 1 8.9 ASCL1 EDN3 EDNRB GDNF RET
41 pheochromocytoma 8.8 ASCL1 GDNF NGF RET
42 myasthenic syndrome, congenital, 21, presynaptic 8.7 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 via clinical synopsis from OMIM:

54

Skeletal:
joint contractures
joint laxity
osteopenia

Neurologic- Central Nervous System:
hypotonia
mental retardation
developmental delay
hydrocephalus
arnold-chiari type i malformation

Abdomen- External Features:
umbilical hernia
abdominal wall weakness

Head And Neck- Ears:
low-set ears
posteriorly rotated ears
soft auricles
hearing loss, conductive (rare)

Chest- Ribs Sternum Clavicles And Scapulae:
thin ribs
pectus carinatum
pectus excavatum
13 pairs of ribs (rare)

Head And Neck- Mouth:
narrow palate
high palate
prominent lateral palatine ridge

Skeletal- Hands:
camptodactyly
arachnodactyly
genu recurvatum

Genitourinary- External Genitalia Female:
inguinal hernia

Head And Neck- Teeth:
malocclusion

Skeletal- Skull:
craniosynostosis
large anterior fontanel

Abdomen- Gastroin testinal:
gastroesophageal reflux (rare)

Muscle Soft Tissue:
minimal subcutaneous fat

Respiratory- Airways:
obstructive apnea

Skeletal- Spine:
scoliosis
c1-c2 vertebral abnormality (fusion or subluxation)

Head And Neck- Eyes:
strabismus
myopia
downslanting palpebral fissures
ptosis
hypertelorism
more
Head And Neck- Head:
microcephaly
dolichocephaly

Head And Neck- Face:
micrognathia
maxillary hypoplasia
high, prominent forehead

Head And Neck- Nose:
upturned nose

Cardiovascular- Heart:
aortic root dilation
mitral valve prolapse

Skeletal- Feet:
talipes equinovarus
pes planus
metatarsus adductus

Genitourinary- External Genitalia Male:
inguinal hernia

Skin Nails & Hair- Skin:
hyperelastic skin

Skeletal- Limbs:
genu valgum (rare)
radial head dislocation (rare)
bowed long bones (rare)
wide metaphyses (rare)

Genitourinary- Internal Genitalia Male:
cryptorchidism (rare)

Cardiovascular- Vascular:
vertebrobasilar artery tortuosity (rare)
internal carotid artery tortuosity (rare)
pulmonary artery root dilation (rare)


Clinical features from OMIM:

182212

Human phenotypes related to Shprintzen-Goldberg Syndrome:

32 (show top 50) (show all 56)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 strabismus 32 HP:0000486
3 umbilical hernia 32 HP:0001537
4 myopia 32 HP:0000545
5 ptosis 32 HP:0000508
6 microcephaly 32 HP:0000252
7 hydrocephalus 32 HP:0000238
8 micrognathia 32 HP:0000347
9 hypertelorism 32 HP:0000316
10 thin ribs 32 HP:0000883
11 joint laxity 32 HP:0001388
12 frontal bossing 32 HP:0002007
13 anteverted nares 32 HP:0000463
14 global developmental delay 32 HP:0001263
15 narrow palate 32 HP:0000189
16 pectus carinatum 32 HP:0000768
17 gastroesophageal reflux 32 HP:0002020
18 cryptorchidism 32 very rare (1%) HP:0000028
19 genu valgum 32 occasional (7.5%) HP:0002857
20 camptodactyly 32 HP:0012385
21 talipes equinovarus 32 HP:0001762
22 telecanthus 32 HP:0000506
23 inguinal hernia 32 very rare (1%) HP:0000023
24 intellectual disability 32 HP:0001249
25 pectus excavatum 32 HP:0000767
26 osteopenia 32 HP:0000938
27 wide anterior fontanel 32 HP:0000260
28 downslanted palpebral fissures 32 HP:0000494
29 low-set, posteriorly rotated ears 32 HP:0000368
30 pes planus 32 HP:0001763
31 high palate 32 very rare (1%) HP:0000218
32 mitral valve prolapse 32 HP:0001634
33 arachnodactyly 32 HP:0001166
34 craniosynostosis 32 HP:0001363
35 dolichocephaly 32 HP:0000268
36 muscular hypotonia 32 HP:0001252
37 feeding difficulties in infancy 32 HP:0008872
38 dental malocclusion 32 HP:0000689
39 metatarsus adductus 32 HP:0001840
40 metaphyseal widening 32 HP:0003016
41 supernumerary ribs 32 HP:0005815
42 aortic dilatation 32 HP:0001724
43 shallow orbits 32 HP:0000586
44 obstructive sleep apnea 32 HP:0002870
45 hyperextensible skin 32 HP:0000974
46 dislocated radial head 32 HP:0003083
47 genu recurvatum 32 HP:0002816
48 minimal subcutaneous fat 32 HP:0003717
49 abdominal wall muscle weakness 32 HP:0009023
50 abnormality of the pinna 32 HP:0000377

MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 TGFB1 ASCL1 EDN3 EDNRB FBN1 GDNF
2 cardiovascular system MP:0005385 10.13 EDNRB FBN1 GDNF MED12 NGF RET
3 cellular MP:0005384 10.11 ASCL1 EDNRB FBN1 GDNF KIF18A MED12
4 growth/size/body region MP:0005378 10.02 SKI TGFB1 ASCL1 EDNRB FBN1 GDNF
5 mortality/aging MP:0010768 9.97 TGFB1 ASCL1 EDN3 EDNRB FBN1 GDNF
6 embryo MP:0005380 9.95 EDNRB FBN1 MED12 RET SKI TGFB1
7 craniofacial MP:0005382 9.91 ASCL1 EDNRB FBN1 MED12 SKI TGFB1
8 endocrine/exocrine gland MP:0005379 9.91 ASCL1 EDNRB FBN1 GDNF KIF18A RET
9 integument MP:0010771 9.8 ASCL1 EDN3 EDNRB FBN1 KIF1A NGF
10 muscle MP:0005369 9.56 EDNRB FBN1 GDNF NGF RET SKI
11 nervous system MP:0003631 9.4 FBN1 GDNF KIF1A MED12 NGF RET

Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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, Pancreas

Publications for Shprintzen-Goldberg Syndrome

Articles related to Shprintzen-Goldberg Syndrome:

(show all 33)
id Title Authors Year
1
Pancreas Transplantation Is Feasible in Donors With Shprintzen-Goldberg Syndrome. ( 28923642 )
2017
2
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects. ( 28857439 )
2017
3
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
4
Shprintzen-Goldberg syndrome: a rare disorder. ( 27761171 )
2016
5
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. ( 24611072 )
2014
6
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. ( 24736733 )
2014
7
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. ( 24397373 )
2014
8
Double-valve surgery in Shprintzen-Goldberg syndrome. ( 24887819 )
2014
9
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. ( 23330586 )
2013
10
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. ( 24357594 )
2013
11
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. ( 23103230 )
2012
12
Germline mosacism in Shprintzen-Goldberg syndrome. ( 22639450 )
2012
13
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? ( 22653535 )
2012
14
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. ( 23023332 )
2012
15
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. ( 21307714 )
2011
16
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. ( 17979970 )
2008
17
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. ( 17303258 )
2007
18
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. ( 16970241 )
2006
19
Molecular pathology of Shprintzen-Goldberg syndrome. ( 16333834 )
2006
20
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. ( 15840802 )
2005
21
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. ( 15884042 )
2005
22
Shprintzen-Goldberg syndrome: case report. ( 12846610 )
2003
23
Shprintzen-Goldberg syndrome: a clinical analysis. ( 9508238 )
1998
24
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. ( 9130129 )
1997
25
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. ( 9338588 )
1997
26
Shprintzen-Goldberg syndrome. A case report. ( 9524609 )
1997
27
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. ( 9255212 )
1997
28
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. ( 9182791 )
1997
29
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. ( 8563763 )
1996
30
Radiographic findings in Shprintzen-Goldberg syndrome. ( 8929375 )
1996
31
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. ( 7573130 )
1995
32
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. ( 7573131 )
1995
33
Shprintzen-Goldberg Syndrome ( 20301454 )
1993

Variations for Shprintzen-Goldberg Syndrome

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

71 (show all 14)
id Symbol AA change Variation ID SNP ID
1 SKI p.Leu21Arg VAR_071170 rs869312902
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 rs869312901
13 SKI p.Ser28Thr VAR_071659
14 SKI p.Gly34Ala VAR_071660

ClinVar genetic disease variations for Shprintzen-Goldberg Syndrome:

6 (show all 19)
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 GRCh38 Chromosome 1, 2229118: 2229118
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/Likely pathogenic rs869312901 GRCh37 Chromosome 1, 2160554: 2160554
19 KIF1BP NM_015634.3(KIF1BP): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 70770757: 70770757

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 11.54 ASCL1 NGF RET
2 11.03 ASCL1 GDNF NGF
3 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 axon GO:0030424 9.26 KIF1A RET STMN2 TGFB1
2 neuronal cell body GO:0043025 8.92 ASCL1 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 9.71 KIF18A KIF1A NGF
5 neural tube closure GO:0001843 9.69 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 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 GDNF TGFB1
9 melanocyte differentiation GO:0030318 9.58 EDN3 EDNRB
10 vasoconstriction GO:0042310 9.57 EDN3 EDNRB
11 sympathetic nervous system development GO:0048485 9.56 ASCL1 GDNF
12 ureteric bud development GO:0001657 9.54 GDNF RET TGFB1
13 negative regulation of microtubule polymerization GO:0031115 9.52 STMN1 STMN2
14 microtubule depolymerization GO:0007019 9.49 KIF18A STMN1
15 regulation of microtubule polymerization or depolymerization GO:0031110 9.48 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
2 growth factor activity GO:0008083 9.13 GDNF NGF TGFB1

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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....