SGS
MCID: SHP005
MIFTS: 42

Shprintzen-Goldberg Craniosynostosis Syndrome (SGS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Shprintzen-Goldberg Craniosynostosis Syndrome

MalaCards integrated aliases for Shprintzen-Goldberg Craniosynostosis Syndrome:

Name: Shprintzen-Goldberg Craniosynostosis Syndrome 57 24 53 25 75 40
Shprintzen-Goldberg Syndrome 57 76 24 53 25 37 29 13 6
Craniosynostosis with Arachnodactyly and Abdominal Hernias 57 53 75
Marfanoid Craniosynostosis Syndrome 57 53 75
Marfanoid-Craniosynostosis Syndrome 24 53 25
Shprintzen-Goldberg Marfanoid Syndrome 24 53
Sgs 57 75
Marfanoid Disorder with Craniosynostosis, Type I 57
Marfanoid Disorder with Craniosynostosis Type 1 53
Marfanoid Disorder with Craniosynostosis Type I 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
shprintzen-goldberg craniosynostosis syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
Penetrance Penetrance is unknown...

Classifications:



Summaries for Shprintzen-Goldberg Craniosynostosis Syndrome

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)

MalaCards based summary : Shprintzen-Goldberg Craniosynostosis Syndrome, also known as shprintzen-goldberg syndrome, is related to schinzel giedion syndrome and goldberg-shprintzen syndrome. An important gene associated with Shprintzen-Goldberg Craniosynostosis Syndrome is SKI (SKI Proto-Oncogene). The drugs Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and bone, and related phenotypes are hypertelorism and low-set ears

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.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Shprintzen�??Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple... more...

GeneReviews: NBK1277

Related Diseases for Shprintzen-Goldberg Craniosynostosis Syndrome

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
myopia
telecanthus
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
thin ribs
13 pairs of ribs (rare)

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

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

Genitourinary External Genitalia Female:
inguinal hernia

Skeletal Feet:
pes planus
metatarsus adductus
talipes equinovarus

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

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

Skeletal:
osteopenia
joint laxity
joint contractures

Genitourinary External Genitalia Male:
inguinal hernia

Abdomen External Features:
umbilical hernia
abdominal wall weakness

Head And Neck Head:
microcephaly
dolichocephaly

Skeletal Hands:
genu recurvatum
arachnodactyly
camptodactyly

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

Human phenotypes related to Shprintzen-Goldberg Craniosynostosis Syndrome:

32 (show top 50) (show all 82)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 very rare (1%) HP:0000316
2 low-set ears 32 hallmark (90%) HP:0000369
3 pectus excavatum 32 frequent (33%) HP:0000767
4 frontal bossing 32 frequent (33%) HP:0002007
5 genu valgum 32 very rare (1%) HP:0002857
6 high palate 32 very rare (1%) HP:0000218
7 hydrocephalus 32 very rare (1%) HP:0000238
8 ptosis 32 very rare (1%) HP:0000508
9 osteopenia 32 occasional (7.5%) HP:0000938
10 intellectual disability 32 hallmark (90%) HP:0001249
11 muscular hypotonia 32 very rare (1%) HP:0001252
12 failure to thrive 32 occasional (7.5%) HP:0001508
13 scoliosis 32 very rare (1%) HP:0002650
14 inguinal hernia 32 very rare (1%) HP:0000023
15 narrow palate 32 HP:0000189
16 dental malocclusion 32 HP:0000689
17 global developmental delay 32 HP:0001263
18 pectus carinatum 32 frequent (33%) HP:0000768
19 joint stiffness 32 occasional (7.5%) HP:0001387
20 umbilical hernia 32 very rare (1%) HP:0001537
21 pes planus 32 hallmark (90%) HP:0001763
22 microcephaly 32 very rare (1%) HP:0000252
23 anteverted nares 32 very rare (1%) HP:0000463
24 gastroesophageal reflux 32 very rare (1%) HP:0002020
25 feeding difficulties in infancy 32 very rare (1%) HP:0008872
26 prominent forehead 32 very rare (1%) HP:0011220
27 abdominal wall muscle weakness 32 very rare (1%) HP:0009023
28 micrognathia 32 very rare (1%) HP:0000347
29 aplasia/hypoplasia of the abdominal wall musculature 32 occasional (7.5%) HP:0010318
30 abnormality of the metaphysis 32 occasional (7.5%) HP:0000944
31 retrognathia 32 hallmark (90%) HP:0000278
32 strabismus 32 very rare (1%) HP:0000486
33 narrow chest 32 occasional (7.5%) HP:0000774
34 joint hyperflexibility 32 frequent (33%) HP:0005692
35 dolichocephaly 32 very rare (1%) HP:0000268
36 abnormal form of the vertebral bodies 32 occasional (7.5%) HP:0003312
37 genu recurvatum 32 HP:0002816
38 cryptorchidism 32 very rare (1%) HP:0000028
39 metatarsus adductus 32 HP:0001840
40 high, narrow palate 32 hallmark (90%) HP:0002705
41 myopia 32 very rare (1%) HP:0000545
42 abnormality of the pinna 32 HP:0000377
43 protruding ear 32 occasional (7.5%) HP:0000411
44 apnea 32 occasional (7.5%) HP:0002104
45 ventriculomegaly 32 occasional (7.5%) HP:0002119
46 joint laxity 32 HP:0001388
47 talipes equinovarus 32 very rare (1%) HP:0001762
48 telecanthus 32 hallmark (90%) HP:0000506
49 thin ribs 32 HP:0000883
50 mitral regurgitation 32 frequent (33%) HP:0001653

MGI Mouse Phenotypes related to Shprintzen-Goldberg Craniosynostosis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 KIF1BP SKI
2 neoplasm MP:0002006 8.62 KIF1BP SKI

Drugs & Therapeutics for Shprintzen-Goldberg Craniosynostosis Syndrome

Drugs for Shprintzen-Goldberg Craniosynostosis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4 Central Nervous System Stimulants Phase 4
5 Psychotropic Drugs Phase 4
6 Dopamine Agents Phase 4
7 Dopamine Antagonists Phase 4
8 Central Nervous System Depressants Phase 4,Phase 1,Phase 2
9 Antipsychotic Agents Phase 4
10 Serotonin Agents Phase 4
11 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
12 Serotonin Antagonists Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Dopamine Uptake Inhibitors Phase 4
15 Tranquilizing Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17 Calcium, Dietary Phase 3,Phase 2,Phase 1
18
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
21
alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Mycophenolic acid Approved Phase 1, Phase 2,Phase 2 24280-93-1 446541
23
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
24
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
25
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
26
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
27
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
28
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
29
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
30
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
31
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
32
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
33
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
34
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
35 Hormones Phase 1, Phase 2
36 Immunosuppressive Agents Phase 2,Phase 1
37 Antimetabolites Phase 2
38 Immunologic Factors Phase 2,Phase 1
39 Antimetabolites, Antineoplastic Phase 2
40 Alkylating Agents Phase 2
41 Antineoplastic Agents, Alkylating Phase 2
42 Anesthetics Phase 2,Phase 1
43 Hormone Antagonists Phase 1, Phase 2
44 Immunoglobulins Phase 1, Phase 2,Phase 2
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
46 Antineoplastic Agents, Hormonal Phase 1, Phase 2
47 Calcineurin Inhibitors Phase 1, Phase 2,Phase 2
48 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
49 Histamine Antagonists Phase 1, Phase 2
50 Methylprednisolone acetate Phase 1, Phase 2

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
2 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
3 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
4 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
5 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
6 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
7 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
8 Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
9 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
10 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
11 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
12 Serum-Free Thymus Transplantation in DiGeorge Anomaly Terminated NCT00849888 Phase 1
13 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
14 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
15 Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study Unknown status NCT02890472
16 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
17 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
18 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
19 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
20 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
21 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
22 Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome Completed NCT02634671 Not Applicable
23 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
24 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
25 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
26 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
27 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
28 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
29 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome Recruiting NCT03375359
30 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
31 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
32 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
33 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
34 Thymus Transplantation Safety-Efficacy Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
35 Infection in DiGeorge Following CHD Surgery Terminated NCT00278005

Search 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:

41
Skin, Skeletal Muscle, Bone, Pancreas

Publications for Shprintzen-Goldberg Craniosynostosis Syndrome

Articles related to Shprintzen-Goldberg Craniosynostosis Syndrome:

(show all 36)
# Title Authors Year
1
Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome. ( 29346558 )
2018
2
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
3
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects. ( 28857439 )
2017
4
Pancreas Transplantation Is Feasible in Donors With Shprintzen-Goldberg Syndrome. ( 28923642 )
2017
5
Shprintzen-Goldberg syndrome: a rare disorder. ( 27761171 )
2016
6
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. ( 24736733 )
2014
7
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. ( 24611072 )
2014
8
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. ( 24397373 )
2014
9
Double-valve surgery in Shprintzen-Goldberg syndrome. ( 24887819 )
2014
10
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. ( 24357594 )
2013
11
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. ( 23330586 )
2013
12
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. ( 23103230 )
2012
13
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. ( 23023332 )
2012
14
Germline mosacism in Shprintzen-Goldberg syndrome. ( 22639450 )
2012
15
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? ( 22653535 )
2012
16
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. ( 21307714 )
2011
17
Response to Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. ( 21199127 )
2010
18
Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. ( 20670243 )
2010
19
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. ( 17979970 )
2008
20
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. ( 17303258 )
2007
21
Molecular pathology of Shprintzen-Goldberg syndrome. ( 16333834 )
2006
22
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. ( 16970241 )
2006
23
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. ( 15884042 )
2005
24
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. ( 15840802 )
2005
25
Shprintzen-Goldberg syndrome: case report. ( 12846610 )
2003
26
Shprintzen-Goldberg syndrome: a clinical analysis. ( 9508238 )
1998
27
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. ( 9338588 )
1997
28
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. ( 9130129 )
1997
29
Shprintzen-Goldberg syndrome. A case report. ( 9524609 )
1997
30
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. ( 9182791 )
1997
31
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. ( 9255212 )
1997
32
Radiographic findings in Shprintzen-Goldberg syndrome. ( 8929375 )
1996
33
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. ( 8563763 )
1996
34
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. ( 7573130 )
1995
35
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. ( 7573131 )
1995
36
Shprintzen-Goldberg Syndrome ( 20301454 )
1993

Variations for Shprintzen-Goldberg Craniosynostosis Syndrome

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

75 (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

ClinVar genetic disease variations for Shprintzen-Goldberg Craniosynostosis Syndrome:

6 (show top 50) (show all 277)
# 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.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs121434514 GRCh38 Chromosome 10, 68989100: 68989100
3 KIF1BP NM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter) single nucleotide variant Pathogenic rs121434515 GRCh37 Chromosome 10, 70748838: 70748838
4 KIF1BP NM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter) single nucleotide variant Pathogenic rs121434515 GRCh38 Chromosome 10, 68989082: 68989082
5 SKI NM_003036.3(SKI): c.347G> A (p.Gly116Glu) single nucleotide variant Pathogenic rs387907303 GRCh37 Chromosome 1, 2160552: 2160552
6 SKI NM_003036.3(SKI): c.347G> A (p.Gly116Glu) single nucleotide variant Pathogenic rs387907303 GRCh38 Chromosome 1, 2229113: 2229113
7 SKI NM_003036.3(SKI): c.94C> G (p.Leu32Val) single nucleotide variant Pathogenic rs387907304 GRCh37 Chromosome 1, 2160299: 2160299
8 SKI NM_003036.3(SKI): c.94C> G (p.Leu32Val) single nucleotide variant Pathogenic rs387907304 GRCh38 Chromosome 1, 2228860: 2228860
9 SKI NM_003036.3(SKI): c.101G> A (p.Gly34Asp) single nucleotide variant Pathogenic rs387907305 GRCh37 Chromosome 1, 2160306: 2160306
10 SKI NM_003036.3(SKI): c.101G> A (p.Gly34Asp) single nucleotide variant Pathogenic rs387907305 GRCh38 Chromosome 1, 2228867: 2228867
11 SKI NM_003036.3(SKI): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387907306 GRCh37 Chromosome 1, 2160305: 2160305
12 SKI NM_003036.3(SKI): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387907306 GRCh38 Chromosome 1, 2228866: 2228866
13 SKI NM_003036.3(SKI): c.100G> T (p.Gly34Cys) single nucleotide variant Pathogenic rs387907306 GRCh37 Chromosome 1, 2160305: 2160305
14 SKI NM_003036.3(SKI): c.100G> T (p.Gly34Cys) single nucleotide variant Pathogenic rs387907306 GRCh38 Chromosome 1, 2228866: 2228866
15 SKI NM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del) deletion Pathogenic rs398122889 GRCh37 Chromosome 1, 2160488: 2160496
16 SKI NM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del) deletion Pathogenic rs398122889 GRCh38 Chromosome 1, 2229049: 2229057
17 SKI NM_003036.3(SKI): c.101G> T (p.Gly34Val) single nucleotide variant Pathogenic rs387907305 GRCh37 Chromosome 1, 2160306: 2160306
18 SKI NM_003036.3(SKI): c.101G> T (p.Gly34Val) single nucleotide variant Pathogenic rs387907305 GRCh38 Chromosome 1, 2228867: 2228867
19 SKI NM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del) deletion Pathogenic rs398122914 GRCh37 Chromosome 1, 2160485: 2160496
20 SKI NM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del) deletion Pathogenic rs398122914 GRCh38 Chromosome 1, 2229046: 2229057
21 SKI NM_003036.3(SKI): c.104C> A (p.Pro35Gln) single nucleotide variant Pathogenic rs397514589 GRCh37 Chromosome 1, 2160309: 2160309
22 SKI NM_003036.3(SKI): c.104C> A (p.Pro35Gln) single nucleotide variant Pathogenic rs397514589 GRCh38 Chromosome 1, 2228870: 2228870
23 SKI NM_003036.3(SKI): c.103C> T (p.Pro35Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397514590 GRCh37 Chromosome 1, 2160308: 2160308
24 SKI NM_003036.3(SKI): c.103C> T (p.Pro35Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397514590 GRCh38 Chromosome 1, 2228869: 2228869
25 SKI NM_003036.3(SKI): c.456C> T (p.Arg152=) single nucleotide variant Benign rs149898447 GRCh37 Chromosome 1, 2160661: 2160661
26 SKI NM_003036.3(SKI): c.456C> T (p.Arg152=) single nucleotide variant Benign rs149898447 GRCh38 Chromosome 1, 2229222: 2229222
27 SKI NM_003036.3(SKI): c.99C> G (p.Gly33=) single nucleotide variant Benign rs200019352 GRCh37 Chromosome 1, 2160304: 2160304
28 SKI NM_003036.3(SKI): c.99C> G (p.Gly33=) single nucleotide variant Benign rs200019352 GRCh38 Chromosome 1, 2228865: 2228865
29 SKI NM_003036.3(SKI): c.1311C> T (p.Ala437=) single nucleotide variant Benign rs140889128 GRCh37 Chromosome 1, 2235378: 2235378
30 SKI NM_003036.3(SKI): c.1311C> T (p.Ala437=) single nucleotide variant Benign rs140889128 GRCh38 Chromosome 1, 2303939: 2303939
31 SKI NM_003036.3(SKI): c.1446G> A (p.Ala482=) single nucleotide variant Benign rs114345135 GRCh37 Chromosome 1, 2235513: 2235513
32 SKI NM_003036.3(SKI): c.1446G> A (p.Ala482=) single nucleotide variant Benign rs114345135 GRCh38 Chromosome 1, 2304074: 2304074
33 SKI NM_003036.3(SKI): c.1834C> T (p.Leu612=) single nucleotide variant Benign/Likely benign rs35833638 GRCh38 Chromosome 1, 2306086: 2306086
34 SKI NM_003036.3(SKI): c.1834C> T (p.Leu612=) single nucleotide variant Benign/Likely benign rs35833638 GRCh37 Chromosome 1, 2237525: 2237525
35 SKI NM_003036.3(SKI): c.1974C> T (p.Arg658=) single nucleotide variant Benign rs201895384 GRCh37 Chromosome 1, 2237665: 2237665
36 SKI NM_003036.3(SKI): c.1974C> T (p.Arg658=) single nucleotide variant Benign rs201895384 GRCh38 Chromosome 1, 2306226: 2306226
37 SKI NM_003036.3(SKI): c.1568C> T (p.Ser523Leu) single nucleotide variant Likely benign rs730880212 GRCh37 Chromosome 1, 2235825: 2235825
38 SKI NM_003036.3(SKI): c.1568C> T (p.Ser523Leu) single nucleotide variant Likely benign rs730880212 GRCh38 Chromosome 1, 2304386: 2304386
39 KIF1BP NM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter) single nucleotide variant Pathogenic rs730882150 GRCh37 Chromosome 10, 70764875: 70764875
40 KIF1BP NM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter) single nucleotide variant Pathogenic rs730882150 GRCh38 Chromosome 10, 69005119: 69005119
41 KIF1BP NM_015634.3(KIF1BP): c.604_605delAG (p.Arg202Ilefs) deletion Pathogenic rs730882151 GRCh37 Chromosome 10, 70764880: 70764881
42 KIF1BP NM_015634.3(KIF1BP): c.604_605delAG (p.Arg202Ilefs) deletion Pathogenic rs730882151 GRCh38 Chromosome 10, 69005124: 69005125
43 KIF1BP NC_000010.11 deletion Pathogenic GRCh38 Chromosome 10, 68989259: 69005731
44 SKI NM_003036.3(SKI): c.798C> T (p.Ala266=) single nucleotide variant Conflicting interpretations of pathogenicity rs149642284 GRCh37 Chromosome 1, 2161003: 2161003
45 SKI NM_003036.3(SKI): c.798C> T (p.Ala266=) single nucleotide variant Conflicting interpretations of pathogenicity rs149642284 GRCh38 Chromosome 1, 2229564: 2229564
46 SKI NM_003036.3(SKI): c.216C> T (p.Pro72=) single nucleotide variant Conflicting interpretations of pathogenicity rs756778048 GRCh37 Chromosome 1, 2160421: 2160421
47 SKI NM_003036.3(SKI): c.216C> T (p.Pro72=) single nucleotide variant Conflicting interpretations of pathogenicity rs756778048 GRCh38 Chromosome 1, 2228982: 2228982
48 SKI NM_003036.3(SKI): c.1890C> T (p.Ala630=) single nucleotide variant Conflicting interpretations of pathogenicity rs773151547 GRCh37 Chromosome 1, 2237581: 2237581
49 SKI NM_003036.3(SKI): c.1890C> T (p.Ala630=) single nucleotide variant Conflicting interpretations of pathogenicity rs773151547 GRCh38 Chromosome 1, 2306142: 2306142
50 SKI NM_003036.3(SKI): c.1851G> A (p.Glu617=) single nucleotide variant Benign/Likely benign rs146789646 GRCh37 Chromosome 1, 2237542: 2237542

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

Sources for Shprintzen-Goldberg Craniosynostosis Syndrome

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