SGS
MCID: SHP005
MIFTS: 47

Shprintzen-Goldberg Craniosynostosis Syndrome (SGS)

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

Aliases & Classifications for Shprintzen-Goldberg Craniosynostosis Syndrome

MalaCards integrated aliases for Shprintzen-Goldberg Craniosynostosis Syndrome:

Name: Shprintzen-Goldberg Craniosynostosis Syndrome 56 52 25 73 39
Shprintzen-Goldberg Syndrome 56 74 24 52 25 58 36 29 13 6
Marfanoid Craniosynostosis Syndrome 56 52 58 73
Craniosynostosis with Arachnodactyly and Abdominal Hernias 56 52 73
Sgs 56 58 73
Marfanoid-Craniosynostosis Syndrome 52 25
Marfanoid Disorder with Craniosynostosis, Type I 56
Marfanoid Disorder with Craniosynostosis Type 1 52
Marfanoid Disorder with Craniosynostosis Type I 73
Shprintzen-Goldberg Marfanoid Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
shprintzen-goldberg syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
shprintzen-goldberg craniosynostosis syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
Penetrance Penetrance is unknown.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Shprintzen-Goldberg Craniosynostosis Syndrome

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. A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally. Affected individuals can also have distinctive facial features, including a long, narrow head; widely spaced eyes (hypertelorism); protruding eyes (exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set ears that are rotated backward. People with Shprintzen-Goldberg syndrome are often said to have a marfanoid habitus, because their bodies resemble those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal side-to-side curvature of the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent (camptodactyly) and an unusually large range of joint movement (hypermobility). People with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability. Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome than in the other two conditions. In addition, heart abnormalities are more common and usually more severe in Marfan syndrome and Loeys-Dietz syndrome.

MalaCards based summary : Shprintzen-Goldberg Craniosynostosis Syndrome, also known as shprintzen-goldberg syndrome, is related to craniosynostosis and schinzel-giedion midface retraction syndrome. An important gene associated with Shprintzen-Goldberg Craniosynostosis Syndrome is SKI (SKI Proto-Oncogene). Affiliated tissues include bone, skin and heart, and related phenotypes are intellectual disability and hypertelorism

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2462 Definition Shprintzen-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.

OMIM : 56 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)

KEGG : 36 Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular anomalies.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Shprintzen-Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple... more...

GeneReviews: NBK1277

Related Diseases for Shprintzen-Goldberg Craniosynostosis Syndrome

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 30.1 SKI FBN1
2 schinzel-giedion midface retraction syndrome 12.1
3 goldberg-shprintzen syndrome 11.7
4 marfanoid-progeroid-lipodystrophy syndrome 11.7
5 omphalocele, autosomal 11.6
6 qualitative or quantitative defects of sarcoglycan 11.5
7 welander distal myopathy 11.5
8 marfan syndrome 10.7
9 alacrima, achalasia, and mental retardation syndrome 10.7
10 loeys-dietz syndrome 10.7
11 scoliosis 10.6
12 hydrocephalus 10.6
13 hypotonia 10.6
14 aortic aneurysm 10.5
15 aneurysm 10.5
16 hypertelorism 10.4
17 joint laxity, short stature, and myopia 10.4
18 umbilical hernia 10.4
19 myopia 10.4
20 hypermobile ehlers-danlos syndrome 10.4
21 bunion 10.4
22 peritonitis 10.3
23 aortic aneurysm, familial abdominal, 1 10.3
24 aortic valve disease 1 10.3
25 cleft palate, isolated 10.3
26 pectus excavatum 10.3
27 scheuermann disease 10.3
28 tetralogy of fallot 10.3
29 orthostatic intolerance 10.3
30 choanal atresia, posterior 10.3
31 loeys-dietz syndrome 2 10.3
32 tetrasomy 15q26 10.3
33 kosaki overgrowth syndrome 10.3
34 tricuspid valve disease 10.3
35 infective endocarditis 10.3
36 frontometaphyseal dysplasia 10.3
37 microcephaly 10.3
38 clubfoot 10.3
39 communicating hydrocephalus 10.3
40 heart septal defect 10.3
41 atrial heart septal defect 10.3
42 subacute bacterial endocarditis 10.3
43 aortic valve insufficiency 10.3
44 lung disease 10.3
45 exophthalmos 10.3
46 aberrant subclavian artery 10.3
47 plagiocephaly 10.3
48 cerebral atrophy 10.3
49 infantile hypotonia 10.3
50 syndromic craniosynostosis 10.3

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



Diseases related to Shprintzen-Goldberg Craniosynostosis Syndrome

Symptoms & Phenotypes for Shprintzen-Goldberg Craniosynostosis Syndrome

Human phenotypes related to Shprintzen-Goldberg Craniosynostosis Syndrome:

58 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hypertelorism 58 31 very rare (1%) Very frequent (99-80%) HP:0000316
3 muscular hypotonia 58 31 very rare (1%) Very frequent (99-80%) HP:0001252
4 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
5 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
6 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
7 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
8 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
9 arachnodactyly 58 31 very rare (1%) Very frequent (99-80%) HP:0001166
10 dolichocephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000268
11 downslanted palpebral fissures 58 31 very rare (1%) Very frequent (99-80%) HP:0000494
12 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
13 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
14 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
15 inguinal hernia 58 31 very rare (1%) Frequent (79-30%) HP:0000023
16 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
17 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
18 umbilical hernia 58 31 very rare (1%) Frequent (79-30%) HP:0001537
19 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
20 strabismus 58 31 very rare (1%) Frequent (79-30%) HP:0000486
21 abnormal aortic valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001646
22 ptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000508
23 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
24 mitral valve prolapse 58 31 very rare (1%) Frequent (79-30%) HP:0001634
25 mitral regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001653
26 hypoplasia of the maxilla 58 31 very rare (1%) Frequent (79-30%) HP:0000327
27 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
28 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
29 craniosynostosis 58 31 very rare (1%) Frequent (79-30%) HP:0001363
30 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
31 communicating hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0001334
32 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
33 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
34 anteverted nares 58 31 very rare (1%) Occasional (29-5%) HP:0000463
35 gastroesophageal reflux 58 31 very rare (1%) Occasional (29-5%) HP:0002020
36 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
37 aplasia/hypoplasia of the abdominal wall musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0010318
38 abnormality of the metaphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000944
39 genu valgum 58 31 very rare (1%) Occasional (29-5%) HP:0002857
40 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
41 cryptorchidism 58 31 very rare (1%) Occasional (29-5%) HP:0000028
42 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
43 myopia 58 31 very rare (1%) Occasional (29-5%) HP:0000545
44 conductive hearing impairment 58 31 very rare (1%) Occasional (29-5%) HP:0000405
45 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
46 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
47 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
48 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
49 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
50 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia

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

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

Abdomen External Features:
umbilical hernia
abdominal wall weakness

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

Skeletal Hands:
genu recurvatum
arachnodactyly
camptodactyly

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

Cardiovascular Heart:
mitral valve prolapse
aortic root dilation

Muscle Soft Tissue:
minimal subcutaneous fat

Head And Neck Nose:
upturned nose

Respiratory Airways:
obstructive apnea

Genitourinary Internal Genitalia Male:
cryptorchidism (rare)

Skin Nails Hair Skin:
hyperelastic skin

Genitourinary External Genitalia Female:
inguinal hernia

Head And Neck Eyes:
hypertelorism
strabismus
ptosis
myopia
proptosis
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
thin ribs
13 pairs of ribs (rare)

Skeletal Feet:
pes planus
metatarsus adductus
talipes equinovarus

Head And Neck Head:
microcephaly
dolichocephaly

Skeletal:
osteopenia
joint laxity
joint contractures

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

Skeletal Skull:
craniosynostosis
large anterior fontanel

Head And Neck Teeth:
malocclusion

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

Abdomen Gastrointestinal:
gastroesophageal reflux (rare)

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

Clinical features from OMIM:

182212

MGI Mouse Phenotypes related to Shprintzen-Goldberg Craniosynostosis Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 FBN1 KIFBP SKI
2 craniofacial MP:0005382 9.43 FBN1 KIFBP SKI
3 embryo MP:0005380 9.33 FBN1 KIFBP SKI
4 muscle MP:0005369 9.13 FBN1 KIFBP SKI
5 skeleton MP:0005390 8.8 FBN1 KIFBP SKI

Drugs & Therapeutics for Shprintzen-Goldberg Craniosynostosis Syndrome

Search Clinical Trials , NIH Clinical Center for Shprintzen-Goldberg Craniosynostosis Syndrome

Genetic Tests for Shprintzen-Goldberg Craniosynostosis Syndrome

Genetic tests related to Shprintzen-Goldberg Craniosynostosis Syndrome:

# Genetic test Affiliating Genes
1 Shprintzen-Goldberg Syndrome 29 SKI

Anatomical Context for Shprintzen-Goldberg Craniosynostosis Syndrome

MalaCards organs/tissues related to Shprintzen-Goldberg Craniosynostosis Syndrome:

40
Bone, Skin, Heart, Eye, Brain, Skeletal Muscle, Pancreas

Publications for Shprintzen-Goldberg Craniosynostosis Syndrome

Articles related to Shprintzen-Goldberg Craniosynostosis Syndrome:

(show top 50) (show all 71)
# Title Authors PMID Year
1
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24 56 6 61
24736733 2015
2
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 24 61 56 6
23023332 2012
3
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 6 24 56 61
23103230 2012
4
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 24 56
16596670 2006
5
Molecular pathology of Shprintzen-Goldberg syndrome. 61 56
16333834 2006
6
Shprintzen-Goldberg Syndrome 61 6
20301454 2006
7
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 61 56
15884042 2005
8
Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. 61 56
11822698 2002
9
Shprintzen-Goldberg syndrome: a clinical analysis. 61 56
9508238 1998
10
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. 61 56
9182791 1997
11
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 56 61
8563763 1996
12
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. 61 56
7573130 1995
13
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. 61 56
7573131 1995
14
Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report. 24 61
31391415 2019
15
A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. 24 61
30883014 2019
16
TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. 61 24
30037098 2018
17
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. 61 24
28771243 2018
18
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects. 24 61
28857439 2017
19
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. 61 24
24357594 2014
20
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. 6
24072599 2013
21
576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy. 24 61
23892090 2013
22
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. 6
23427148 2013
23
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 6
15883926 2005
24
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 56
15731757 2005
25
Craniosynostosis and marfanoid habitus without mental retardation: report of a third case. 56
9605294 1998
26
Craniosynostosis with Marfan syndrome, hand and foot anomalies. 56
8818457 1996
27
A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. 56
6182156 1982
28
Transcriptional cofactors Ski and SnoN are major regulators of the TGF-β/Smad signaling pathway in health and disease. 24
29892481 2018
29
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. 61
31980905 2020
30
Shprintzen-Goldberg syndrome with plagiocephaly: A case report. 61
31577075 2019
31
Shprintzen-Goldberg Syndrome: A Rare Disorder. 61
31142417 2019
32
Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome. 61
29346558 2018
33
Pancreas Transplantation Is Feasible in Donors With Shprintzen-Goldberg Syndrome. 61
28923642 2017
34
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. 61
28328806 2017
35
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. 61
26919284 2016
36
Shprintzen-Goldberg syndrome: a rare disorder. 61
27761171 2016
37
TGF-β signalopathies as a paradigm for translational medicine. 61
26598797 2015
38
Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes. 61
24867163 2015
39
Double-valve surgery in Shprintzen-Goldberg syndrome. 61
24887819 2014
40
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. 61
24397373 2014
41
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. 61
24611072 2014
42
[Fiberoptic tracheal intubation through the supraglottic airway device air-Q in a patient with Shprintzen-Goldberg syndrome]. 61
23984569 2013
43
Aberrant TGF-β signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. 61
23330586 2013
44
Musculo-skeletal abnormalities in patients with Marfan syndrome. 61
23399831 2013
45
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? 61
22653535 2012
46
Germline mosacism in Shprintzen-Goldberg syndrome. 61
22639450 2012
47
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. 61
21307714 2011
48
Response to Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. 61
21199127 2010
49
Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. 61
20670243 2010
50
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 61
20681224 2010

Variations for Shprintzen-Goldberg Craniosynostosis Syndrome

ClinVar genetic disease variations for Shprintzen-Goldberg Craniosynostosis Syndrome:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SKI NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del)deletion Pathogenic 463409 rs1553189986 1:2160841-2161098 1:2229402-2229659
2 SKI NM_003036.4(SKI):c.91T>C (p.Ser31Pro)SNV Pathogenic 692060 1:2160296-2160296 1:2228857-2228857
3 SKI NM_003036.4(SKI):c.100G>T (p.Gly34Cys)SNV Pathogenic 37262 rs387907306 1:2160305-2160305 1:2228866-2228866
4 SKI NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del)deletion Pathogenic 37263 rs398122889 1:2160485-2160493 1:2229046-2229054
5 SKI NM_003036.4(SKI):c.101G>T (p.Gly34Val)SNV Pathogenic 39783 rs387907305 1:2160306-2160306 1:2228867-2228867
6 SKI NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del)deletion Pathogenic 39784 rs398122914 1:2160485-2160496 1:2229046-2229057
7 KIFBP NM_015634.4(KIFBP):c.268C>T (p.Arg90Ter)SNV Pathogenic 1733 rs121434514 10:70748856-70748856 10:68989100-68989100
8 KIFBP NM_015634.4(KIFBP):c.250G>T (p.Glu84Ter)SNV Pathogenic 1734 rs121434515 10:70748838-70748838 10:68989082-68989082
9 SKI NM_003036.4(SKI):c.347G>A (p.Gly116Glu)SNV Pathogenic 37258 rs387907303 1:2160552-2160552 1:2229113-2229113
10 SKI NM_003036.4(SKI):c.94C>G (p.Leu32Val)SNV Pathogenic 37259 rs387907304 1:2160299-2160299 1:2228860-2228860
11 SKI NM_003036.4(SKI):c.101G>A (p.Gly34Asp)SNV Pathogenic 37260 rs387907305 1:2160306-2160306 1:2228867-2228867
12 KIFBP NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter)SNV Pathogenic 183145 rs730882150 10:70764875-70764875 10:69005119-69005119
13 KIFBP NM_015634.4(KIFBP):c.605_606del (p.Arg202fs)deletion Pathogenic 183146 rs730882151 10:70764880-70764881 10:69005124-69005125
14 KIFBP NC_000010.11:g.(68989259_69000424)_(69005125_69005731)deldeletion Pathogenic 183147 10:68989259-69005731
15 SKI NM_003036.4(SKI):c.62T>G (p.Leu21Arg)SNV Pathogenic 224869 rs869312902 1:2160267-2160267 1:2228828-2228828
16 SKI NM_003036.4(SKI):c.349G>C (p.Gly117Arg)SNV Pathogenic/Likely pathogenic 224868 rs869312901 1:2160554-2160554 1:2229115-2229115
17 SKI NM_003036.4(SKI):c.100G>A (p.Gly34Ser)SNV Pathogenic/Likely pathogenic 37261 rs387907306 1:2160305-2160305 1:2228866-2228866
18 SKI NM_003036.4(SKI):c.104C>A (p.Pro35Gln)SNV Likely pathogenic 39785 rs397514589 1:2160309-2160309 1:2228870-2228870
19 SKI NM_003036.4(SKI):c.352G>A (p.Glu118Lys)SNV Likely pathogenic 222819 rs869025525 1:2160557-2160557 1:2229118-2229118
20 SKI NM_003036.4(SKI):c.68A>C (p.Gln23Pro)SNV Likely pathogenic 570752 rs1557806222 1:2160273-2160273 1:2228834-2228834
21 SKI NM_003036.4(SKI):c.2058C>T (p.Ala686=)SNV Conflicting interpretations of pathogenicity 520154 rs1171554207 1:2238075-2238075 1:2306636-2306636
22 SKI NM_003036.4(SKI):c.1548G>A (p.Pro516=)SNV Conflicting interpretations of pathogenicity 463396 rs1239990628 1:2235805-2235805 1:2304366-2304366
23 SKI NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)SNV Conflicting interpretations of pathogenicity 409974 rs199797772 1:2235451-2235451 1:2304012-2304012
24 SKI NM_003036.4(SKI):c.104C>G (p.Pro35Arg)SNV Conflicting interpretations of pathogenicity 409977 rs397514589 1:2160309-2160309 1:2228870-2228870
25 SKI NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)SNV Conflicting interpretations of pathogenicity 222820 rs759663808 1:2234528-2234528 1:2303089-2303089
26 SKI NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)SNV Conflicting interpretations of pathogenicity 213701 rs372950890 1:2238200-2238200 1:2306761-2306761
27 SKI NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)SNV Conflicting interpretations of pathogenicity 220793 rs771862077 1:2235325-2235325 1:2303886-2303886
28 SKI NM_003036.4(SKI):c.2141G>A (p.Arg714His)SNV Conflicting interpretations of pathogenicity 213679 rs754486257 1:2238158-2238158 1:2306719-2306719
29 SKI NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)SNV Conflicting interpretations of pathogenicity 213695 rs61735580 1:2235785-2235785 1:2304346-2304346
30 SKI NM_003036.4(SKI):c.798C>T (p.Ala266=)SNV Conflicting interpretations of pathogenicity 193248 rs149642284 1:2161003-2161003 1:2229564-2229564
31 SKI NM_003036.4(SKI):c.216C>T (p.Pro72=)SNV Conflicting interpretations of pathogenicity 193249 rs756778048 1:2160421-2160421 1:2228982-2228982
32 SKI NM_003036.4(SKI):c.539C>T (p.Thr180Met)SNV Conflicting interpretations of pathogenicity 213684 rs863223722 1:2160744-2160744 1:2229305-2229305
33 SKI NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)SNV Conflicting interpretations of pathogenicity 213666 rs150934009 1:2234480-2234480 1:2303041-2303041
34 SKI NM_003036.4(SKI):c.1196C>T (p.Ala399Val)SNV Conflicting interpretations of pathogenicity 213692 rs141862996 1:2234824-2234824 1:2303385-2303385
35 SKI NM_003036.4(SKI):c.103C>T (p.Pro35Ser)SNV Conflicting interpretations of pathogenicity 39786 rs397514590 1:2160308-2160308 1:2228869-2228869
36 SKI NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)SNV Conflicting interpretations of pathogenicity 263895 rs544709718 1:2235376-2235376 1:2303937-2303937
37 SKI NM_003036.4(SKI):c.464C>G (p.Ala155Gly)SNV Uncertain significance 373594 rs559020511 1:2160669-2160669 1:2229230-2229230
38 SKI NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)SNV Uncertain significance 373745 rs781304969 1:2235737-2235737 1:2304298-2304298
39 SKI NM_003036.4(SKI):c.1505C>T (p.Pro502Leu)SNV Uncertain significance 377202 rs1057520161 1:2235762-2235762 1:2304323-2304323
40 SKI NM_003036.4(SKI):c.1456G>A (p.Val486Ile)SNV Uncertain significance 229252 rs200717031 1:2235523-2235523 1:2304084-2304084
41 SKI NM_003036.4(SKI):c.487G>A (p.Val163Ile)SNV Uncertain significance 239479 rs878854599 1:2160692-2160692 1:2229253-2229253
42 SKI NM_003036.4(SKI):c.1767+6C>TSNV Uncertain significance 239476 rs780191562 1:2236030-2236030 1:2304591-2304591
43 SKI NM_003036.4(SKI):c.964C>T (p.Pro322Ser)SNV Uncertain significance 264199 rs779317743 1:2161169-2161169 1:2229730-2229730
44 SKI NM_003036.4(SKI):c.209C>T (p.Pro70Leu)SNV Uncertain significance 856283 1:2160414-2160414 1:2228975-2228975
45 SKI NM_003036.4(SKI):c.459C>T (p.Cys153=)SNV Uncertain significance 859837 1:2160664-2160664 1:2229225-2229225
46 SKI NM_003036.4(SKI):c.574G>A (p.Gly192Ser)SNV Uncertain significance 842118 1:2160779-2160779 1:2229340-2229340
47 SKI NM_003036.4(SKI):c.878G>A (p.Gly293Asp)SNV Uncertain significance 858270 1:2161083-2161083 1:2229644-2229644
48 SKI NM_003036.4(SKI):c.892G>T (p.Ala298Ser)SNV Uncertain significance 838492 1:2161097-2161097 1:2229658-2229658
49 SKI NM_003036.4(SKI):c.1019C>T (p.Ser340Phe)SNV Uncertain significance 854003 1:2234466-2234466 1:2303027-2303027
50 SKI NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)SNV Uncertain significance 837577 1:2235397-2235397 1:2303958-2303958

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

73 (show all 14)
# 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

Expression for Shprintzen-Goldberg Craniosynostosis Syndrome

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

Pathways for Shprintzen-Goldberg Craniosynostosis Syndrome

GO Terms for Shprintzen-Goldberg Craniosynostosis Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 8.62 SKI FBN1

Sources for Shprintzen-Goldberg Craniosynostosis Syndrome

3 CDC
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