GLASS
MCID: GLS018
MIFTS: 66

Glass Syndrome (GLASS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 57 11 24 19 42 38
Chromosome 2q32-Q33 Deletion Syndrome 57 11 42 28 12 5 71
Satb2-Associated Syndrome 11 24 19 42 58 14
2q33.1 Microdeletion Syndrome 24 42 58 28
Sas 19 42 58
2q32-Q33 Microdeletion Syndrome 11 19
2q32q33 Microdeletion Syndrome 11 58
2q32 Deletion Syndrome 24 42
Monosomy 2q32-Q33 11 19
Monosomy 2q32q33 11 58
Del(2)(q32q33) 19 58
Monosomy 2q32 11 58
Del(2)(q32) 19 58
Satb2-Associated Syndrome Due to a Chromosomal Rearrangement 58
Satb2-Associated Syndrome Due to a Pathogenic Variant 58
Satb2-Associated Syndrome Due to a Point Mutation 58
2q32q33 Microdeletion Syndromes 19
Satb2 Associated Disorder 5
Monosomy 2q33.1 58
Satb2 Syndrome 19
Del(2)(q33.1) 58
Glass 57

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

2q32q33 Microdeletion Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

2q32q33 Microdeletion Syndrome: Infancy,Neonatal 58
Satb2-Associated Syndrome Due to a Chromosomal Rearrangement: Infancy,Neonatal 58
Satb2-Associated Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
de novo mutation
variable manifestations


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Glass Syndrome

MedlinePlus Genetics: 42 SATB2-associated syndrome is a condition that affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies), and behavioral problems. Some of the common features can be described using the acronym SATB2 (which is the name of the gene involved in the condition): severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.Individuals with SATB2-associated syndrome typically have mild to severe intellectual disability, and their ability to speak is delayed or absent. Development of motor skills, such as rolling over, sitting, and walking, can also be delayed. Many affected individuals have behavioral problems, including hyperactivity and aggression. Some exhibit autistic behaviors, such as repetitive movements. A happy or overfriendly personality is also common among individuals with SATB2-associated syndrome. Less common neurological problems include feeding difficulties and weak muscle tone (hypotonia) in infancy. About half of affected individuals have abnormalities in the structure of the brain.The most common craniofacial anomalies in people with SATB2-associated syndrome are a high arch or an opening in the roof of the mouth (high-arched or cleft palate), a small lower jaw (micrognathia), and dental abnormalities, which can include abnormally sized or shaped teeth, extra (supernumerary) teeth, or missing teeth (oligodontia). Some people with SATB2-associated syndrome have other unusual facial features, such as a prominent forehead, low-set ears, or a large area between the nose and mouth (a long philtrum).Less-commonly affected are the heart, genitals and urinary tract (genitourinary tract), skin, and hair.

MalaCards based summary: Glass Syndrome, also known as chromosome 2q32-q33 deletion syndrome, is related to tooth agenesis and rett syndrome, and has symptoms including thin, sparse hair An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2), and among its related pathways/superpathways are Cohesin complex - Cornelia de Lange syndrome and Rett syndrome causing genes. Affiliated tissues include bone, brain and skin, and related phenotypes are global developmental delay and abnormality of the dentition

GARD: 19 "The SATB2-associated syndrome (SAS) is a recently described condition, characterized by developmental delay, intellectual disability with absent or limited language skills, palatal and dental abnormalities, behavioral problems, and unusual facial features. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and age of onset before 2 years of age). Other features may include osteopenia and Rett-like problems. The SATB2 gene is located in chromosome 2q32 (the region designated as q32 on the long (""q"") arm of chromosome 2), and many of the features are similar to the ""2q33.1 microdeletion syndrome"". This gene is important for the development of the face, brain and bone. Alterations to the SATB2 gene can result from different mechanisms, such as contiguous deletions (missing pieces of the chromosome 2 that include the SATB2 gene and other genes that are close together), duplications (extra pieces of genetic material) translocations (rearrangements involving the gene), or point genetic changes (a genetic change that only affects a single nucleotide of the DNA)."

Orphanet 58 2q32q33 microdeletion syndrome: 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

Satb2-associated syndrome: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.

OMIM®: 57 Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014). (612313) (Updated 24-Oct-2022)

Disease Ontology: 11 A syndrome that has material basis in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.

GeneReviews: NBK458647

Related Diseases for Glass Syndrome

Diseases related to Glass Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1206)
# Related Disease Score Top Affiliating Genes
1 tooth agenesis 29.4 SATB2 IRF6 DLX6 ANKRD11
2 rett syndrome 29.2 SMC1A SATB2 NTNG1 FOXG1 DLX6
3 microcephaly 29.1 SMC1A SATB2 NIPBL LEMD2 FOXG1 BCL11B
4 cleft palate, isolated 28.9 SATB2 NIPBL IRF6 DLX6
5 uncombable hair syndrome 1 11.4
6 subvalvular aortic stenosis 11.1
7 pulmonary venoocclusive disease 2, autosomal recessive 11.0
8 pulmonary venoocclusive disease 1, autosomal dominant 11.0
9 corneal dystrophy, endothelial, x-linked 11.0
10 surfactant metabolism dysfunction, pulmonary, 2 11.0
11 brittle bone disorder 11.0
12 interstitial lung disease 2 10.9
13 nonspecific interstitial pneumonia 10.9
14 porphyria, acute hepatic 10.9
15 mercury poisoning 10.9
16 pulmonary venoocclusive disease 10.9
17 capillary malformations, congenital 10.9
18 corneal endothelial dystrophy 10.9
19 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
20 interstitial pneumonitis, desquamative, familial 10.9
21 corneal dystrophy, avellino type 10.9
22 west nile virus 10.9
23 uncombable hair syndrome 2 10.9
24 uncombable hair syndrome 3 10.9
25 interstitial lung disease 1 10.9
26 baritosis 10.9
27 glassy cell variant cervical adenosquamous carcinoma 10.9
28 bacterial meningitis 10.9
29 meningitis 10.9
30 glassy cell carcinoma of the cervix 10.9
31 trichostasis spinulosa 10.9
32 hereditary neuropathies 10.9
33 glassy cell carcinoma of the cervix uteri 10.9
34 respiratory bronchiolitis-interstitial lung disease syndrome 10.9
35 congenital hereditary endothelial dystrophy type i 10.9
36 adenocarcinoma 10.8
37 lung cancer susceptibility 3 10.8
38 hair whorl 10.7
39 adenocarcinoma in situ 10.6
40 dental caries 10.5
41 turner syndrome 10.5
42 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.5
43 hemophilia a 10.5
44 osteomyelitis 10.5
45 bronchiolo-alveolar adenocarcinoma 10.5
46 osteogenic sarcoma 10.5
47 alacrima, achalasia, and mental retardation syndrome 10.4
48 lung cancer 10.4
49 virus-associated trichodysplasia spinulosa 10.4
50 hepatocellular carcinoma 10.4

Graphical network of the top 20 diseases related to Glass Syndrome:



Diseases related to Glass Syndrome

Symptoms & Phenotypes for Glass Syndrome

Human phenotypes related to Glass Syndrome:

58 30 (show top 50) (show all 141)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0001263
2 abnormality of the dentition 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000164
3 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000750
4 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
5 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
Frequent (79-30%)
HP:0010864
6 absent speech 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
HP:0001344
7 sleep disturbance 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0002360
8 high palate 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Frequent (79-30%)
HP:0000218
9 osteopenia 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0000938
10 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0000252
11 smooth philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000319
12 broad thumb 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
Occasional (29-5%)
HP:0011304
13 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0008872
14 prominent forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0011220
15 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000175
16 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0007018
17 postnatal growth retardation 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0008897
18 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000347
19 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0000369
20 dental crowding 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0000678
21 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
Occasional (29-5%)
HP:0000324
22 abnormality of vision 58 30 Frequent (33%) Frequent (79-30%)
HP:0000504
23 thin upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000219
24 long philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
Occasional (29-5%)
HP:0000343
25 deeply set eye 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0000490
26 fine hair 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0002213
27 intellectual disability, moderate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002342
28 prominent nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000426
29 high forehead 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000348
30 severe global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011344
31 thin vermilion border 58 30 Frequent (33%) Frequent (79-30%)
HP:0000233
32 decreased testicular size 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0008734
33 sparse hair 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0008070
34 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
35 bilateral talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001776
36 nasogastric tube feeding in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0011470
37 autistic behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000729
38 aggressive behavior 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
HP:0000718
39 brain imaging abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0410263
40 hypermetropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000540
41 drooling 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002307
42 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
43 happy demeanor 58 30 Frequent (33%) Frequent (79-30%)
HP:0040082
44 delayed myelination 58 30 Frequent (33%) Frequent (79-30%)
HP:0012448
45 hypotonia 30 Frequent (33%) HP:0001252
46 abnormal cerebral white matter morphology 30 Frequent (33%) HP:0002500
47 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
48 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
49 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
50 dental malocclusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Face:
frontal bossing
smooth philtrum
micrognathia
long face
high forehead
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate
small mouth

Skeletal Hands:
arachnodactyly
camptodactyly

Neurologic Central Nervous System:
broad-based gait
mental retardation
seizures (in some patients)
delayed psychomotor development
poor speech development

Head And Neck Teeth:
oligodontia
crowded teeth
delayed primary dentition
peg-shaped teeth

Skin Nails Hair Hair:
thin, sparse hair

Skin Nails Hair Nails:
dysplastic nails

Growth Other:
growth retardation, pre- and postnatal

Abdomen External Features:
inguinal hernia

Growth Height:
short stature

Head And Neck Ears:
low-set ears

Head And Neck Nose:
prominent nasal bridge
long nose
bulbous nasal tip
thin nose

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
happy demeanor
aggression

Skin Nails Hair Skin:
thin skin

Head And Neck Eyes:
downslanting palpebral fissures

Skeletal Feet:
pes equinovarus

Laboratory Abnormalities:
some patients carry a deletion of minimum of 8.1 mb on 2q32-q33

Clinical features from OMIM®:

612313 (Updated 24-Oct-2022)

UMLS symptoms related to Glass Syndrome:


thin, sparse hair

GenomeRNAi Phenotypes related to Glass Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.36 HECW2 PGAP1
2 Decreased viability after Maraba virus infection GR00252-A-2 9.36 BCL11B DLX6 HECW2 PGAP1 SATB2
3 Decreased viability after Maraba virus infection GR00252-A-3 9.36 BCL11B DLX6 PGAP1 SATB2

MGI Mouse Phenotypes related to Glass Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.27 ACBD5 ANKRD11 DLX6 FLRT2 FOXG1 HECW2
2 growth/size/body region MP:0005378 10.22 ACBD5 ANKRD11 BCL11B DLX6 FOXG1 HECW2
3 embryo MP:0005380 10.02 ANKRD11 DLX6 FLRT2 FOXG1 IRF6 LEMD2
4 hearing/vestibular/ear MP:0005377 9.98 ANKRD11 DLX6 FOXG1 IRF6 NIPBL PGAP1
5 cellular MP:0005384 9.93 ACBD5 BCL11B FLRT2 FOXG1 HECW2 IRF6
6 digestive/alimentary MP:0005381 9.92 ANKRD11 DLX6 FOXG1 HECW2 IRF6 PGAP1
7 craniofacial MP:0005382 9.91 ANKRD11 BCL11B DLX6 FOXG1 IRF6 LEMD2
8 skeleton MP:0005390 9.65 ACBD5 ANKRD11 BCL11B DLX6 FOXG1 IRF6
9 mortality/aging MP:0010768 9.53 ANKRD11 BCL11B DLX6 FLRT2 FOXG1 HECW2

Drugs & Therapeutics for Glass Syndrome

Search Clinical Trials, NIH Clinical Center for Glass Syndrome

Genetic Tests for Glass Syndrome

Genetic tests related to Glass Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q32-Q33 Deletion Syndrome 28 SATB2
2 2q33.1 Microdeletion Syndrome 28

Anatomical Context for Glass Syndrome

Organs/tissues related to Glass Syndrome:

MalaCards : Bone, Brain, Skin, Heart, Eye, Lung, Bone Marrow

Publications for Glass Syndrome

Articles related to Glass Syndrome:

(show top 50) (show all 30083)
# Title Authors PMID Year
1
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. 62 24 57 5
25118029 2015
2
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome. 62 24 57 5
25251319 2014
3
Further delineation of the SATB2 phenotype. 62 24 57 5
24301056 2014
4
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. 62 24 57 5
21343628 2011
5
Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 24 57 5
28151491 2017
6
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 24 57 5
23925499 2013
7
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 24 57 5
17377962 2007
8
Bone health and SATB2-associated syndrome. 62 24 5
28787087 2018
9
SATB2-associated syndrome presenting with Rett-like phenotypes. 62 24 5
26596517 2016
10
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 62 24 5
25885067 2015
11
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 62 24 57
19668335 2009
12
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. 24 5
24884844 2014
13
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 24 57
24363063 2014
14
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. 24 57
20034071 2010
15
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 24 57
19576302 2009
16
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 24 57
16179223 2005
17
Identification of SATB2 as the cleft palate gene on 2q32-q33. 24 57
12915443 2003
18
A locus for isolated cleft palate, located on human chromosome 2q32. 24 57
10417281 1999
19
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 24 57
2918541 1989
20
Mutation update for the SATB2 gene. 62 5
31021519 2019
21
[Analysis of SATB2 gene mutation in a child with Glass syndrome]. 62 5
31302918 2019
22
Patients with SATB2-associated syndrome exhibiting multiple odontomas. 62 5
30575289 2018
23
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. 62 5
29436146 2018
24
Whole genome sequencing of 45 Japanese patients with intellectual disability. 5
33624935 2021
25
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 62 24
28139846 2017
26
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. 62 24
27774744 2017
27
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. 62 24
27409069 2016
28
Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1. 62 24
26811410 2016
29
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
30
Large-scale discovery of novel genetic causes of developmental disorders. 5
25533962 2015
31
First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome. 62 24
25729738 2015
32
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
33
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. 57
21295280 2011
34
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. 62 24
19284984 2009
35
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
36
A chromosomal deletion map of human malformations. 57
9758599 1998
37
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 24
28211976 2017
38
The clinical significance of small copy number variants in neurodevelopmental disorders. 24
25106414 2014
39
Genome sequencing identifies major causes of severe intellectual disability. 24
24896178 2014
40
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism. 24
23918240 2013
41
Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. 24
23840981 2013
42
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 24
23020937 2012
43
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. 24
22521361 2012
44
A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages. 24
21089028 2010
45
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 24
19170718 2009
46
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. 24
18371933 2008
47
SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons. 24
18333962 2008
48
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 24
16960803 2006
49
SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 24
16751105 2006
50
SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. 24
14701874 2003

Variations for Glass Syndrome

ClinVar genetic disease variations for Glass Syndrome:

5 (show top 50) (show all 369)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SATB2 NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup DUP Pathogenic
217315 GRCh37: 2:200228772-200263785
GRCh38: 2:199364049-199399062
2 SATB2 NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs) MICROSAT Pathogenic
224131 rs875989830 GRCh37: 2:200213465-200213466
GRCh38: 2:199348742-199348743
3 SATB2 NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) SNV Pathogenic
235893 rs878853163 GRCh37: 2:200188573-200188573
GRCh38: 2:199323850-199323850
4 SATB2 NM_001172509.2(SATB2):c.1627del (p.Arg543fs) DEL Pathogenic
431132 rs1135401803 GRCh37: 2:200173596-200173596
GRCh38: 2:199308873-199308873
5 SATB2 NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) SNV Pathogenic
422062 rs1064795530 GRCh37: 2:200173527-200173527
GRCh38: 2:199308804-199308804
6 SATB2 NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser) SNV Pathogenic
545530 rs1553544187 GRCh37: 2:200173680-200173680
GRCh38: 2:199308957-199308957
7 SATB2 NC_000002.12:g.(?_199348681)_(199433534_?)del DEL Pathogenic
584397 GRCh37: 2:200213404-200298257
GRCh38: 2:199348681-199433534
8 SATB2 GRCh37/hg19 2q33.1(chr2:200213361-200233633) CN LOSS Pathogenic
625775 GRCh37: 2:200213361-200233633
GRCh38:
9 SATB2 NM_001172509.2(SATB2):c.1826del (p.Asp609fs) DEL Pathogenic
666260 rs1574459072 GRCh37: 2:200137310-200137310
GRCh38: 2:199272587-199272587
10 SATB2 NM_001172509.2(SATB2):c.1610del (p.Asn537fs) DEL Pathogenic
691258 rs1574492395 GRCh37: 2:200173613-200173613
GRCh38: 2:199308890-199308890
11 SATB2 NM_001172509.2(SATB2):c.474-2A>G SNV Pathogenic
801850 rs1574566973 GRCh37: 2:200245212-200245212
GRCh38: 2:199380489-199380489
12 SATB2 NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) DEL Pathogenic
807482 rs1574532220 GRCh37: 2:200213491-200213494
GRCh38: 2:199348768-199348771
13 SATB2 NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs) INSERT Pathogenic
807483 rs1574566833 GRCh37: 2:200245130-200245131
GRCh38: 2:199380407-199380408
14 SATB2 NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) SNV Pathogenic
807484 rs1357010510 GRCh37: 2:200298182-200298182
GRCh38: 2:199433459-199433459
15 SATB2 NM_001172509.2(SATB2):c.1504del (p.Gln502fs) DEL Pathogenic
973264 rs1687958384 GRCh37: 2:200188564-200188564
GRCh38: 2:199323841-199323841
16 SATB2 NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) SNV Pathogenic
Likely Benign
973276 rs1330378388 GRCh37: 2:200298089-200298089
GRCh38: 2:199433366-199433366
17 SATB2 NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) DEL Pathogenic
976026 rs1688740919 GRCh37: 2:200213875-200213876
GRCh38: 2:199349152-199349153
18 overlap with 40 genes GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) CN LOSS Pathogenic
977790 GRCh37: 2:190345272-200212289
GRCh38:
19 overlap with 22 genes GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1 CN LOSS Pathogenic
983310 GRCh37: 2:197359024-201383462
GRCh38:
20 SATB2 NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg) SNV Pathogenic
981628 rs1688108689 GRCh37: 2:200193633-200193633
GRCh38: 2:199328910-199328910
21 SATB2 NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter) SNV Pathogenic
1032667 rs1688726794 GRCh37: 2:200213462-200213462
GRCh38: 2:199348739-199348739
22 SATB2 NC_000002.11:g.(?_200136914)_(200320780_?)del DEL Pathogenic
1076235 GRCh37: 2:200136914-200320780
GRCh38:
23 SATB2 NM_001172509.2(SATB2):c.1153del (p.Val385fs) DEL Pathogenic
1308668 GRCh37: 2:200213444-200213444
GRCh38: 2:199348721-199348721
24 SATB2 NM_001172509.2(SATB2):c.150del (p.Val51fs) DEL Pathogenic
1320122 GRCh37: 2:200320611-200320611
GRCh38: 2:199455888-199455888
25 SATB2 NM_001172509.2(SATB2):c.1705dup (p.Gln569fs) DUP Pathogenic
1323551 GRCh37: 2:200173517-200173518
GRCh38: 2:199308794-199308795
26 SATB2 NM_001172509.2(SATB2):c.554del (p.Glu185fs) DEL Pathogenic
1373974 GRCh37: 2:200245130-200245130
GRCh38: 2:199380407-199380407
27 SATB2 NM_001172509.2(SATB2):c.588_595del (p.Leu197fs) DEL Pathogenic
1411669 GRCh37: 2:200245089-200245096
GRCh38: 2:199380366-199380373
28 SATB2 NM_001172509.2(SATB2):c.346+1G>A SNV Pathogenic
1457171 GRCh37: 2:200298060-200298060
GRCh38: 2:199433337-199433337
29 SATB2 NM_001172509.2(SATB2):c.346+2T>A SNV Pathogenic
1453296 GRCh37: 2:200298059-200298059
GRCh38: 2:199433336-199433336
30 SATB2 NM_001172509.2(SATB2):c.282_289dup (p.Val97fs) DUP Pathogenic
1453490 GRCh37: 2:200298117-200298118
GRCh38: 2:199433394-199433395
31 SATB2 NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu) SNV Pathogenic
1526096 GRCh37: 2:200213431-200213431
GRCh38: 2:199348708-199348708
32 SATB2 NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs) DUP Pathogenic
958421 rs1688101934 GRCh37: 2:200193459-200193460
GRCh38: 2:199328736-199328737
33 SATB2 NM_001172509.2(SATB2):c.1592dup (p.Asn531fs) DUP Pathogenic
469544 rs1553544158 GRCh37: 2:200173630-200173631
GRCh38: 2:199308907-199308908
34 SATB2 NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter) SNV Pathogenic
656899 rs1391758713 GRCh37: 2:200245122-200245122
GRCh38: 2:199380399-199380399
35 SATB2 NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) SNV Pathogenic
Likely Pathogenic
373069 rs1057518190 GRCh37: 2:200193611-200193611
GRCh38: 2:199328888-199328888
36 SATB2 NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) SNV Pathogenic
573402 rs1559052032 GRCh37: 2:200298064-200298064
GRCh38: 2:199433341-199433341
37 SATB2 NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) SNV Pathogenic
280687 rs886041847 GRCh37: 2:200193522-200193522
GRCh38: 2:199328799-199328799
38 SATB2 NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs) DEL Pathogenic
840533 rs1692186575 GRCh37: 2:200137115-200137134
GRCh38: 2:199272392-199272411
39 SATB2 NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly) SNV Pathogenic
848669 rs1688108235 GRCh37: 2:200193620-200193620
GRCh38: 2:199328897-199328897
40 SATB2 NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) SNV Pathogenic
2519 rs137853127 GRCh37: 2:200213882-200213882
GRCh38: 2:199349159-199349159
41 SATB2 NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) SNV Pathogenic
381575 GRCh37: 2:200213432-200213432
GRCh38: 2:199348709-199348709
42 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) SNV Pathogenic
522269 rs1553547838 GRCh37: 2:200193432-200193432
GRCh38: 2:199328709-199328709
43 SATB2 NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) SNV Pathogenic
Pathogenic
208673 rs797044874 GRCh37: 2:200213750-200213750
GRCh38: 2:199349027-199349027
44 SATB2 NM_001172509.1(SATB2):c.170_346dup DUP Pathogenic
218098 GRCh37: 2:200298061-200298237
GRCh38: 2:199391823-199446462
45 overlap with 129 genes GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) CN LOSS Pathogenic
1703524 GRCh37: 2:185697659-213002074
GRCh38:
46 SATB2 NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) SNV Pathogenic/Likely Pathogenic
1343141 GRCh37: 2:200193633-200193633
GRCh38: 2:199328910-199328910
47 SATB2 NM_001172509.2(SATB2):c.597+1G>A SNV Pathogenic/Likely Pathogenic
620021 rs1559016679 GRCh37: 2:200245086-200245086
GRCh38: 2:199380363-199380363
48 SATB2 NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) SNV Likely Pathogenic
801849 rs1574532452 GRCh37: 2:200213672-200213672
GRCh38: 2:199348949-199348949
49 SATB2 NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs) DEL Likely Pathogenic
666577 rs1574510975 GRCh37: 2:200193586-200193589
GRCh38: 2:199328863-199328866
50 SATB2 NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val) SNV Likely Pathogenic
1032668 rs1688103803 GRCh37: 2:200193500-200193500
GRCh38: 2:199328777-199328777

Copy number variations for Glass Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 140542 2 199837205 200020800 Deletion SATB2 2q33.1 microdeletion syndrome

Expression for Glass Syndrome

Search GEO for disease gene expression data for Glass Syndrome.

Pathways for Glass Syndrome

Pathways related to Glass Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.67 SMC1A NIPBL
2 10.48 SMC1A SATB2 FOXG1
3
Show member pathways
10.32 SMC1A NIPBL

GO Terms for Glass Syndrome

Cellular components related to Glass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.47 SATB2 SATB1 NIPBL LEMD2 IRF6 FOXG1

Biological processes related to Glass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 9.73 SATB2 IRF6 DLX6
2 mitotic sister chromatid cohesion GO:0007064 9.62 SMC1A NIPBL
3 head development GO:0060322 9.54 PGAP1 DLX6
4 establishment of mitotic sister chromatid cohesion GO:0034087 9.26 SMC1A NIPBL
5 embryo development GO:0009790 9.16 NIPBL DLX6
6 regulation of neuron migration GO:2001222 9.1 UNC5C NTNG1 FLRT2

Molecular functions related to Glass Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.5 SATB2 SATB1 IRF6 FOXG1 BCL11B
2 mediator complex binding GO:0036033 8.92 SMC1A NIPBL

Sources for Glass Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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