SGS
MCID: SHP005
MIFTS: 46

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 57 20 43 72 39
Shprintzen-Goldberg Syndrome 57 73 25 20 43 58 36 29 13 6
Marfanoid Craniosynostosis Syndrome 57 20 58 72
Craniosynostosis with Arachnodactyly and Abdominal Hernias 57 20 72
Sgs 57 58 72
Marfanoid-Craniosynostosis Syndrome 20 43
Marfanoid Disorder with Craniosynostosis, Type I 57
Marfanoid Disorder with Craniosynostosis Type 1 20
Marfanoid Disorder with Craniosynostosis Type I 72
Shprintzen-Goldberg Marfanoid Syndrome 20

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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

25
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

MedlinePlus Genetics : 43 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 heart, skeletal muscle and eye, and related phenotypes are intellectual disability and hypertelorism

GARD : 20 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.

OMIM® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 63)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 30.3 SKI FBN1
2 schinzel-giedion midface retraction syndrome 11.5
3 marfanoid-progeroid-lipodystrophy syndrome 11.4
4 omphalocele, autosomal 11.3
5 welander distal myopathy 11.2
6 marfan syndrome 10.5
7 alacrima, achalasia, and mental retardation syndrome 10.5
8 loeys-dietz syndrome 10.5
9 scoliosis 10.5
10 hydrocephalus 10.4
11 aortic aneurysm 10.4
12 aneurysm 10.4
13 marfanoid hypermobility syndrome 10.3
14 umbilical hernia 10.3
15 hypermobile ehlers-danlos syndrome 10.3
16 bunion 10.3
17 hypertelorism 10.2
18 ptosis 10.2
19 isolated ectopia lentis 10.2
20 mitral valve insufficiency 10.2
21 myopia 10.2
22 exophthalmos 10.2
23 hypotonia 10.2
24 aortic aneurysm, familial abdominal, 1 10.1
25 cleft palate, isolated 10.1
26 aortic aneurysm, familial thoracic 4 10.1
27 pectus excavatum 10.1
28 scheuermann disease 10.1
29 tetralogy of fallot 10.1
30 hydrocephalus, congenital, 1 10.1
31 orthostatic intolerance 10.1
32 choanal atresia, posterior 10.1
33 loeys-dietz syndrome 2 10.1
34 tetrasomy 15q26 10.1
35 kosaki overgrowth syndrome 10.1
36 tricuspid valve disease 10.1
37 infective endocarditis 10.1
38 frontometaphyseal dysplasia 10.1
39 microcephaly 10.1
40 clubfoot 10.1
41 communicating hydrocephalus 10.1
42 heart septal defect 10.1
43 atrial heart septal defect 10.1
44 subacute bacterial endocarditis 10.1
45 aortic valve insufficiency 10.1
46 lung disease 10.1
47 aberrant subclavian artery 10.1
48 familial thoracic aortic aneurysm and aortic dissection 10.1
49 plagiocephaly 10.1
50 cerebral atrophy 10.1

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 85)
# 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 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
4 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
5 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
6 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
7 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
8 arachnodactyly 58 31 very rare (1%) Very frequent (99-80%) HP:0001166
9 dolichocephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000268
10 downslanted palpebral fissures 58 31 very rare (1%) Very frequent (99-80%) HP:0000494
11 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
12 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
13 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
14 hypotonia 31 very rare (1%) HP:0001252
15 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
16 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
17 ptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000508
18 inguinal hernia 58 31 very rare (1%) Frequent (79-30%) HP:0000023
19 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
20 umbilical hernia 58 31 very rare (1%) Frequent (79-30%) HP:0001537
21 strabismus 58 31 very rare (1%) Frequent (79-30%) HP:0000486
22 abnormal aortic valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001646
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 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
33 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
34 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
35 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
36 anteverted nares 58 31 very rare (1%) Occasional (29-5%) HP:0000463
37 gastroesophageal reflux 58 31 very rare (1%) Occasional (29-5%) HP:0002020
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 aplasia/hypoplasia of the abdominal wall musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0010318
42 cryptorchidism 58 31 very rare (1%) Occasional (29-5%) HP:0000028
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®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
c1-c2 vertebral abnormality (fusion or subluxation)

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

Skeletal:
osteopenia
joint laxity
joint contractures

Genitourinary External Genitalia Female:
inguinal hernia

Abdomen External Features:
umbilical hernia
abdominal wall weakness

Head And Neck Head:
microcephaly
dolichocephaly

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

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
myopia
proptosis
more
Neurologic Central Nervous System:
hydrocephalus
arnold-chiari type i malformation
hypotonia
developmental delay
mental retardation

Genitourinary External Genitalia Male:
inguinal hernia

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

Skeletal Hands:
genu recurvatum
arachnodactyly
camptodactyly

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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Shprintzen-Goldberg Craniosynostosis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 FBN1 KIFBP SKI
2 embryo MP:0005380 9.33 FBN1 KIFBP SKI
3 muscle MP:0005369 9.13 FBN1 KIFBP SKI
4 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
Heart, Skeletal Muscle, Eye, Bone, Pancreas

Publications for Shprintzen-Goldberg Craniosynostosis Syndrome

Articles related to Shprintzen-Goldberg Craniosynostosis Syndrome:

(show top 50) (show all 82)
# Title Authors PMID Year
1
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 61 57 6 25
24736733 2015
2
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 61 57 6 25
23023332 2012
3
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 6 57 25 61
23103230 2012
4
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. 61 6 25
24357594 2014
5
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 57 25
16596670 2006
6
Molecular pathology of Shprintzen-Goldberg syndrome. 57 61
16333834 2006
7
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 61 57
15884042 2005
8
Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. 57 61
11822698 2002
9
Shprintzen-Goldberg syndrome: a clinical analysis. 57 61
9508238 1998
10
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. 61 57
9182791 1997
11
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 57 61
8563763 1996
12
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. 57 61
7573130 1995
13
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. 61 57
7573131 1995
14
Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report. 25 61
31391415 2019
15
A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. 25 61
30883014 2019
16
TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. 25 61
30037098 2018
17
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. 25 61
28771243 2018
18
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects. 25 61
28857439 2017
19
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
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. 61 25
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. 57
15731757 2005
25
Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-beta signaling. 6
12857746 2003
26
Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling. 6
12419246 2002
27
Craniosynostosis and marfanoid habitus without mental retardation: report of a third case. 57
9605294 1998
28
Craniosynostosis with Marfan syndrome, hand and foot anomalies. 57
8818457 1996
29
A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. 57
6182156 1982
30
Transcriptional cofactors Ski and SnoN are major regulators of the TGF-β/Smad signaling pathway in health and disease. 25
29892481 2018
31
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. 61
33436942 2021
32
Intraoperative absent bilateral medial recti in syndromic craniosynostosis. 61
33461988 2021
33
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization. 61
33416497 2021
34
A Rare Case Of Shprintzen-Goldberg Syndrome. 61
33774974 2021
35
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases. 61
33478915 2021
36
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. 61
31980905 2020
37
Scoliosis in Shprintzen-Goldberg Syndrome. 61
33299628 2020
38
Corrigendum to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review". 61
33301545 2020
39
Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review. 61
33628537 2020
40
Shprintzen-Goldberg syndrome with plagiocephaly: A case report. 61
31577075 2019
41
Shprintzen-Goldberg Syndrome: A Rare Disorder. 61
31142417 2019
42
Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome. 61
29346558 2018
43
Pancreas Transplantation Is Feasible in Donors With Shprintzen-Goldberg Syndrome. 61
28923642 2017
44
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. 61
28328806 2017
45
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. 61
26919284 2016
46
Shprintzen-Goldberg syndrome: a rare disorder. 61
27761171 2016
47
TGF-β signalopathies as a paradigm for translational medicine. 61
26598797 2015
48
Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes. 61
24867163 2015
49
Double-valve surgery in Shprintzen-Goldberg syndrome. 61
24887819 2014
50
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. 61
24397373 2014

Variations for Shprintzen-Goldberg Craniosynostosis Syndrome

ClinVar genetic disease variations for Shprintzen-Goldberg Craniosynostosis Syndrome:

6 (show top 50) (show all 237)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SKI NM_003036.4(SKI):c.94C>G (p.Leu32Val) SNV Pathogenic 37259 rs387907304 GRCh37: 1:2160299-2160299
GRCh38: 1:2228860-2228860
2 SKI NM_003036.4(SKI):c.101G>A (p.Gly34Asp) SNV Pathogenic 37260 rs387907305 GRCh37: 1:2160306-2160306
GRCh38: 1:2228867-2228867
3 SKI NM_003036.4(SKI):c.100G>T (p.Gly34Cys) SNV Pathogenic 37262 rs387907306 GRCh37: 1:2160305-2160305
GRCh38: 1:2228866-2228866
4 SKI NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del) Deletion Pathogenic 37263 rs398122889 GRCh37: 1:2160485-2160493
GRCh38: 1:2229046-2229054
5 SKI NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del) Deletion Pathogenic 39784 rs398122914 GRCh37: 1:2160485-2160496
GRCh38: 1:2229046-2229057
6 KIFBP NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) SNV Pathogenic 183145 rs730882150 GRCh37: 10:70764875-70764875
GRCh38: 10:69005119-69005119
7 KIFBP NM_015634.4(KIFBP):c.605_606del (p.Arg202fs) Deletion Pathogenic 183146 rs730882151 GRCh37: 10:70764880-70764881
GRCh38: 10:69005124-69005125
8 KIFBP NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del Deletion Pathogenic 183147 GRCh37:
GRCh38: 10:68989259-69005731
9 SKI NM_003036.4(SKI):c.62T>G (p.Leu21Arg) SNV Pathogenic 224869 rs869312902 GRCh37: 1:2160267-2160267
GRCh38: 1:2228828-2228828
10 KIFBP NM_015634.4(KIFBP):c.268C>T (p.Arg90Ter) SNV Pathogenic 1733 rs121434514 GRCh37: 10:70748856-70748856
GRCh38: 10:68989100-68989100
11 KIFBP NM_015634.4(KIFBP):c.250G>T (p.Glu84Ter) SNV Pathogenic 1734 rs121434515 GRCh37: 10:70748838-70748838
GRCh38: 10:68989082-68989082
12 SKI NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del) Deletion Pathogenic 463409 rs1553189986 GRCh37: 1:2160841-2161098
GRCh38: 1:2229402-2229659
13 SKI NM_003036.4(SKI):c.91T>C (p.Ser31Pro) SNV Pathogenic 692060 rs1569656981 GRCh37: 1:2160296-2160296
GRCh38: 1:2228857-2228857
14 SKI NM_003036.4(SKI):c.349G>C (p.Gly117Arg) SNV Pathogenic 224868 rs869312901 GRCh37: 1:2160554-2160554
GRCh38: 1:2229115-2229115
15 SKI NM_003036.4(SKI):c.101G>T (p.Gly34Val) SNV Pathogenic 39783 rs387907305 GRCh37: 1:2160306-2160306
GRCh38: 1:2228867-2228867
16 SKI NM_003036.4(SKI):c.100G>A (p.Gly34Ser) SNV Pathogenic/Likely pathogenic 37261 rs387907306 GRCh37: 1:2160305-2160305
GRCh38: 1:2228866-2228866
17 SKI NM_003036.4(SKI):c.347G>A (p.Gly116Glu) SNV Pathogenic/Likely pathogenic 37258 rs387907303 GRCh37: 1:2160552-2160552
GRCh38: 1:2229113-2229113
18 SKI NM_003036.4(SKI):c.352G>A (p.Glu118Lys) SNV Likely pathogenic 222819 rs869025525 GRCh37: 1:2160557-2160557
GRCh38: 1:2229118-2229118
19 SKI NM_003036.4(SKI):c.104C>A (p.Pro35Gln) SNV Likely pathogenic 39785 rs397514589 GRCh37: 1:2160309-2160309
GRCh38: 1:2228870-2228870
20 SKI NM_003036.4(SKI):c.68A>C (p.Gln23Pro) SNV Likely pathogenic 570752 rs1557806222 GRCh37: 1:2160273-2160273
GRCh38: 1:2228834-2228834
21 SKI NM_003036.4(SKI):c.2058C>T (p.Ala686=) SNV Conflicting interpretations of pathogenicity 520154 rs1171554207 GRCh37: 1:2238075-2238075
GRCh38: 1:2306636-2306636
22 SKI NM_003036.4(SKI):c.103C>T (p.Pro35Ser) SNV Conflicting interpretations of pathogenicity 39786 rs397514590 GRCh37: 1:2160308-2160308
GRCh38: 1:2228869-2228869
23 SKI NM_003036.4(SKI):c.104C>G (p.Pro35Arg) SNV Conflicting interpretations of pathogenicity 409977 rs397514589 GRCh37: 1:2160309-2160309
GRCh38: 1:2228870-2228870
24 SKI NM_003036.4(SKI):c.1196C>T (p.Ala399Val) SNV Conflicting interpretations of pathogenicity 213692 rs141862996 GRCh37: 1:2234824-2234824
GRCh38: 1:2303385-2303385
25 SKI NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) SNV Conflicting interpretations of pathogenicity 213701 rs372950890 GRCh37: 1:2238200-2238200
GRCh38: 1:2306761-2306761
26 SKI NM_003036.4(SKI):c.539C>T (p.Thr180Met) SNV Conflicting interpretations of pathogenicity 213684 rs863223722 GRCh37: 1:2160744-2160744
GRCh38: 1:2229305-2229305
27 overlap with 59 genes NC_000001.10:g.(?_955543)_(2957600_?)del Deletion Uncertain significance 659614 GRCh37: 1:955543-2957600
GRCh38:
28 SKI NM_003036.4(SKI):c.1418C>T (p.Ala473Val) SNV Uncertain significance 840638 GRCh37: 1:2235485-2235485
GRCh38: 1:2304046-2304046
29 SKI NM_003036.4(SKI):c.1739C>T (p.Ala580Val) SNV Uncertain significance 432018 rs1397350089 GRCh37: 1:2235996-2235996
GRCh38: 1:2304557-2304557
30 SKI NM_003036.4(SKI):c.1485_1487del (p.Leu496del) Deletion Uncertain significance 846901 GRCh37: 1:2235742-2235744
GRCh38: 1:2304303-2304305
31 SKI NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) SNV Uncertain significance 377202 rs1057520161 GRCh37: 1:2235762-2235762
GRCh38: 1:2304323-2304323
32 SKI NM_003036.4(SKI):c.1118G>A (p.Arg373His) SNV Uncertain significance 968648 GRCh37: 1:2234746-2234746
GRCh38: 1:2303307-2303307
33 SKI NM_003036.4(SKI):c.1006A>G (p.Thr336Ala) SNV Uncertain significance 1028067 GRCh37: 1:2234453-2234453
GRCh38: 1:2303014-2303014
34 SKI NM_003036.4(SKI):c.1328C>T (p.Pro443Leu) SNV Uncertain significance 1028068 GRCh37: 1:2235395-2235395
GRCh38: 1:2303956-2303956
35 SKI NM_003036.4(SKI):c.2057C>A (p.Ala686Asp) SNV Uncertain significance 1032105 GRCh37: 1:2238074-2238074
GRCh38: 1:2306635-2306635
36 SKI NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) SNV Uncertain significance 213710 rs863223728 GRCh37: 1:2238145-2238145
GRCh38: 1:2306706-2306706
37 SKI NM_003036.4(SKI):c.611C>T (p.Ala204Val) SNV Uncertain significance 1035650 GRCh37: 1:2160816-2160816
GRCh38: 1:2229377-2229377
38 SKI NM_003036.4(SKI):c.985C>T (p.Pro329Ser) SNV Uncertain significance 1035726 GRCh37: 1:2234432-2234432
GRCh38: 1:2302993-2302993
39 SKI NM_003036.4(SKI):c.351C>T (p.Gly117=) SNV Uncertain significance 1041911 GRCh37: 1:2160556-2160556
GRCh38: 1:2229117-2229117
40 SKI NM_003036.4(SKI):c.1354C>A (p.Pro452Thr) SNV Uncertain significance 1042664 GRCh37: 1:2235421-2235421
GRCh38: 1:2303982-2303982
41 SKI NM_003036.4(SKI):c.2173G>C (p.Glu725Gln) SNV Uncertain significance 1042737 GRCh37: 1:2238190-2238190
GRCh38: 1:2306751-2306751
42 SKI NM_003036.4(SKI):c.242C>A (p.Pro81Gln) SNV Uncertain significance 1043983 GRCh37: 1:2160447-2160447
GRCh38: 1:2229008-2229008
43 SKI NM_003036.4(SKI):c.2186_*9dup (p.Ter729=) Duplication Uncertain significance 1044180 GRCh37: 1:2238202-2238203
GRCh38: 1:2306763-2306764
44 SKI NM_003036.4(SKI):c.974C>T (p.Ser325Phe) SNV Uncertain significance 1047735 GRCh37: 1:2234421-2234421
GRCh38: 1:2302982-2302982
45 SKI NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) SNV Uncertain significance 213667 rs376736872 GRCh37: 1:2234790-2234790
GRCh38: 1:2303351-2303351
46 SKI NM_003036.4(SKI):c.1877A>T (p.Lys626Met) SNV Uncertain significance 213698 rs774106502 GRCh37: 1:2237568-2237568
GRCh38: 1:2306129-2306129
47 SKI NM_003036.4(SKI):c.942C>T (p.Gly314=) SNV Uncertain significance 998603 GRCh37: 1:2161147-2161147
GRCh38: 1:2229708-2229708
48 SKI NM_003036.4(SKI):c.1690C>G (p.His564Asp) SNV Uncertain significance 1001652 GRCh37: 1:2235947-2235947
GRCh38: 1:2304508-2304508
49 SKI NM_003036.4(SKI):c.1411G>A (p.Val471Met) SNV Uncertain significance 1001740 GRCh37: 1:2235478-2235478
GRCh38: 1:2304039-2304039
50 SKI NC_000001.10:g.(?_2160186)_(2238224_?)dup Duplication Uncertain significance 1003648 GRCh37: 1:2160186-2238224
GRCh38:

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

72 (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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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