GLASS
MCID: GLS018
MIFTS: 60

Glass Syndrome (GLASS)

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

Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 57 12 25 20 43 36
Chromosome 2q32-Q33 Deletion Syndrome 57 12 43 29 13 6 70
Satb2-Associated Syndrome 12 25 20 43 58 15
2q33.1 Microdeletion Syndrome 25 43 58
Sas 20 43 58
2q32-Q33 Microdeletion Syndrome 12 20
2q32q33 Microdeletion Syndrome 12 58
2q32 Deletion Syndrome 25 43
Monosomy 2q32-Q33 12 20
Monosomy 2q32q33 12 58
Del(2)(q32q33) 20 58
Monosomy 2q32 12 58
Del(2)(q32) 20 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 20
Monosomy 2q33.1 58
Syndrome, Glass 39
Satb2 Syndrome 20
Del(2)(q33.1) 58
Glass 57

Characteristics:

Orphanet epidemiological data:

58
2q32q33 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
satb2-associated syndrome due to a chromosomal rearrangement
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
de novo mutation
variable manifestations


HPO:

31
glass syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Glass Syndrome

MedlinePlus Genetics : 43 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 uncombable hair syndrome 1 and subvalvular aortic stenosis, and has symptoms including thin, sparse hair An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2). The drugs Hexetidine and Menthol have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and liver, and related phenotypes are global developmental delay and abnormality of the dentition

Disease Ontology : 12 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.

GARD : 20 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, S evere speech anomalies; A, A bnormalities of the palate; T, T eeth anomalies; B, B ehavioral issues with or without B one or B rain anomalies, and age of onset before 2 years of age). Other features may include osteopenia and Rett-like problems. The SATB 2 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 SATB 2 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 mutations (a mutation that only affects a single nucleotide of the DNA ). Treatment depends on the symptoms, and may involve behavioral and physical therapy, surgery for cleft palate repair and orthodontic treatment. The organization UNIQUE has published information about SATB2-associated syndrome.

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 05-Apr-2021)

KEGG : 36 Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Alterations to the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations.

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 894)
# Related Disease Score Top Affiliating Genes
1 uncombable hair syndrome 1 11.4
2 subvalvular aortic stenosis 11.1
3 pulmonary venoocclusive disease 2, autosomal recessive 11.0
4 pulmonary venoocclusive disease 1, autosomal dominant 11.0
5 vitreous disease 11.0
6 corneal endothelial dystrophy type 2 11.0
7 brittle bone disorder 11.0
8 pulmonary venoocclusive disease 10.9
9 mercury poisoning 10.9
10 capillary malformations, congenital 10.8
11 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.8
12 corneal dystrophy, endothelial, x-linked 10.8
13 corneal dystrophy, avellino type 10.8
14 west nile virus 10.8
15 porphyria, acute hepatic 10.8
16 uncombable hair syndrome 2 10.8
17 uncombable hair syndrome 3 10.8
18 baritosis 10.8
19 glassy cell variant cervical adenosquamous carcinoma 10.8
20 glassy cell carcinoma of the cervix 10.8
21 trichostasis spinulosa 10.8
22 hereditary neuropathies 10.8
23 hair whorl 10.7
24 lung cancer susceptibility 3 10.7
25 adenocarcinoma 10.6
26 adenocarcinoma in situ 10.5
27 aging 10.5
28 bronchiolo-alveolar adenocarcinoma 10.5
29 dental caries 10.4
30 osteomyelitis 10.4
31 lung cancer 10.4
32 osteogenic sarcoma 10.4
33 virus-associated trichodysplasia spinulosa 10.4
34 triiodothyronine receptor auxiliary protein 10.3
35 rapidly involuting congenital hemangioma 10.3
36 periodontitis 10.3
37 alacrima, achalasia, and mental retardation syndrome 10.3
38 pneumothorax 10.3
39 lung disease 10.3
40 hepatocellular carcinoma 10.3
41 48,xyyy 10.3
42 gingival recession 10.3
43 root caries 10.2
44 bone resorption disease 10.2
45 allergic disease 10.2
46 small cell cancer of the lung 10.2
47 covid-19 10.2
48 anthracosis 10.2
49 cataract 10.2
50 otitis media 10.2

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 31 (show top 50) (show all 138)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001263
2 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000164
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0010864
6 absent speech 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001344
7 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002360
8 high palate 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Frequent (79-30%) HP:0000218
9 osteopenia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000938
10 microcephaly 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000252
11 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
12 broad thumb 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0011304
13 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008872
14 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
15 cleft palate 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000175
16 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0007018
17 postnatal growth retardation 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0008897
18 micrognathia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000347
19 low-set ears 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000369
20 dental crowding 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000678
21 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0000324
22 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
23 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
24 long philtrum 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0000343
25 deeply set eye 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000490
26 fine hair 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002213
27 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
28 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000426
29 high forehead 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000348
30 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
31 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
32 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0008734
33 sparse hair 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0008070
34 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
35 bilateral talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001776
36 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
37 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000718
38 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
39 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
40 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
41 drooling 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002307
42 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
43 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
44 happy demeanor 58 31 frequent (33%) Frequent (79-30%) HP:0040082
45 nasogastric tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011470
46 hypotonia 31 frequent (33%) HP:0001252
47 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
48 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
49 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
50 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

UMLS symptoms related to Glass Syndrome:


thin, sparse hair

Drugs & Therapeutics for Glass Syndrome

Drugs for Glass Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 669)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hexetidine Approved, Investigational Phase 4 141-94-6
2
Menthol Approved Phase 4 2216-51-5 16666
3
Iodine Approved, Investigational Phase 4 7553-56-2 807
4
Magnesium oxide Approved Phase 4 1309-48-4 14792
5
Bisacodyl Approved Phase 4 603-50-9
6
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
7
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
8
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
9
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
10
Dipivefrin Approved Phase 4 52365-63-6 3105
11
Ranibizumab Approved Phase 4 347396-82-1 459903
12
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
13
Magnesium citrate Approved Phase 4 3344-18-1
14 Strontium ranelate Approved, Withdrawn Phase 4 135459-87-9
15
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
16
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
17
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
18
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
19
Acetaminophen Approved Phase 4 103-90-2 1983
20
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
21
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
22
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
23
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616
24
Promethazine Approved, Investigational Phase 4 60-87-7 4927
25
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
26
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
27
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
28
alemtuzumab Approved, Investigational Phase 4 216503-57-0
29
Mycophenolic acid Approved Phase 4 24280-93-1 446541
30
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
31 Polyethylene glycol 3350 Phase 4
32 Cathartics Phase 4
33 Picosulfate sodium Phase 4
34 Laxatives Phase 4
35 Vardenafil Dihydrochloride Phase 4
36 Protective Agents Phase 4
37 Nutrients Phase 4
38 Trace Elements Phase 4
39 Micronutrients Phase 4
40 Antioxidants Phase 4
41 Proton Pump Inhibitors Phase 4
42 Nicotinic Agonists Phase 4
43 Tea Phase 4
44 (T,G)-A-L Phase 4
45
Glatiramer Acetate Phase 4 147245-92-9 3081884
46 Diphosphonates Phase 4
47 BB 1101 Phase 4
48 Hylan Phase 4
49 Dexamethasone 21-phosphate Phase 4
50 Anesthetics Phase 4

Interventional clinical trials:

(show top 50) (show all 1008)
# Name Status NCT ID Phase Drugs
1 Postoperative Pain After Application of Silver Diamine Fluoride and Glass Ionomer Versus Glass Ionomer Alone Following Minimal Caries Removal Technique in Asymptomatic Young Permanent Teeth With Deep Caries. A Randomized Pilot Study. Unknown status NCT03568474 Phase 4 Silver Diamine Fluoride;Glass Ionomer
2 Clinical Efficacy of Giomer Versus Sodium Fluoride Varnish for Management of Hypersensitivity: Randomized Control Trail Unknown status NCT03818945 Phase 4 shofu PRG barrier coat;Sodium fluoride varnish
3 Single Center Study Evaluating the Possible Effect of Virtual Reality Spectacles on Pain Following Total Knee Replacement Surgery Unknown status NCT03311971 Phase 4
4 Methodology of Application and Immediate Effect of the Essential Oils and 0.2% Chlorhexidine on Oral Biofilm: Immersion Versus Mouthwash. Unknown status NCT02267239 Phase 4 essential oils, immersion;Chlorhexidine, immersion;essential oils, mouthwash;chlorhexidine, mouthwash
5 Post-operative Pain After Silver Diamine Fluoride Application in Primary Molars With Deep Caries Versus Interim Restorative Therapy Unknown status NCT03563534 Phase 4 Silver Diamine Fluoride;Glass Ionomer
6 Transarterial Radioembolization Versus Chemoembolization for the Treatment of Advanced Hepatocellular Carcinoma Unknown status NCT02729506 Phase 4
7 Efficacy of Calcium Silicate Pulp-capping; a Randomized Controlled Clinical Trial Unknown status NCT02201641 Phase 4
8 Evaluation Of Fluoride Uptake By Dentine Following Pretreatment With Silver Diamine Fluoride And Potassium Iodide Under Resin Modified Glass Ionomer Restoration Versus Resin Modified Glass Ionomer Restoration Alone In Carious Primary Molars: (In Vitro Study) Completed NCT04777968 Phase 4 Silver diamine fluoride
9 Economic Evaluation of ART Sealant in Preventing Pit and Fissure Caries in Permanent First Molars in an Asia Population Completed NCT03034837 Phase 4 resin sealant;ART sealant
10 A 12-Week, Multicenter, Open Label Study To Evaluate The Effectiveness And Safety Of Donepezil Hydrochloride (E2020) In Subjects With Mild To Severe Alzheimer's Disease Residing In An Assisted Living Facility Completed NCT00571064 Phase 4 Donepezil HCl
11 Comparison of Prilosec OTC® Versus Prevacid ® for Gastric Acid Suppression Completed NCT00903448 Phase 4 Prilosec OTC (omeprazole-magnesium);Prevacid
12 Varenicline Treatment for Smoking Cessation in Patients With Bipolar Disorder Completed NCT01010204 Phase 4 Varenicline;Placebo
13 Double-blind, Cross-over, Placebo Controlled Pilot Study to Characterize the Profile of Those Patients With Spinal Cord Injury Diagnosed by Electrophysiological, Urodynamic and Clinical (ASIA Group) Assessment Who May Respond to Vardenafil Treatment. (LEMDE) Completed NCT00667966 Phase 4 Vardenafil (Levitra, BAY 38-9456), 10 mg;Placebo;Vardenafil (Levitra, BAY 38-9456), 20 mg
14 Clinical Investigation of the Vision-R800 Device. Understanding the Value of High Precision Refractions and Lenses to Optometrists and Patients. Phase 2 Completed NCT04208750 Phase 4
15 A Double-Blind, Randomized, Placebo Controlled Study of An Oral Antihistamine on Local Injection Site Reactions Among Persons With Multiple Sclerosis Who Perform Daily Injections of Copaxone® Using Autoject® 2 for Glass Syringe. Completed NCT00240032 Phase 4 glatiramer acetate injection with oral cetirizine hydrochloride;glatiramer acetate with placebo
16 Evaluation of Resin Modified Glass Ionomer Liner (Vitrebond™) Versus Calcium Hydroxide as Indirect Pulp Treatment Material Used in Deep Carious Lesions in Primary Molars: A Randomized Clinical Trial Completed NCT03770871 Phase 4 Indirect pulp treatment using Dycal (TM);Indirect pulp treatment using Vitrebond (TM )
17 A 2-year Clinical Study on Postoperative Pulpal Complications Arising From the Absence of a Glass-ionomer Lining in Deep Occlusal Resin Composite Restorations Completed NCT01567514 Phase 4
18 Bioactive Glass Granules as Bone Graft Substitute in Filling Material of Bone Defects Completed NCT01304121 Phase 4
19 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
20 Comparison of Safety, Effectiveness, and Quality-of-life Outcomes Between Labeled Versus "Treat and Extend" Regimen in Turkish Patients With Choroidal Neovascularisation Due to AMD Completed NCT01148511 Phase 4 Ranibizumab 0.5 mg
21 The Change of Bone Markers After Low Dose Alendronate in Postmenopausal Women Completed NCT00460057 Phase 4 Alendronate
22 A Multicenter, Open Label, High Dose (100mg) Rapid Titration Study, To Evaluate The Efficacy And Satisfaction Of Patrex® (Sildenafil Citrate) In Men With Erectile Dysfunction In Mexico. Completed NCT00468650 Phase 4 sildenafil citrate
23 To Evaluate the Effectiveness of Mineral Trioxide Aggregate and Platelet Rich Fibrin Along With Biodentine as Pulpotomy Medicament in Patients With Pulpitis. Completed NCT04773886 Phase 4 Mineral trioxide aggregate;Biodentine
24 A 24-week, International, Multi Centre, Randomised, Open Label, Parallel Group, Phase IV Clinical Trial Investigating Changes in Bone Formation Markers in Postmenopausal Women With Primary Osteoporosis Treated With Either PTH(1-84) or Strontium Ranelate Completed NCT00479037 Phase 4 Full Length Parathyroid Hormone, PTH(1-84);Strontium Ranelate
25 A Multicenter, Prospective, Open-label, Single Arm Study of the Efficacy and Safety of Synvisc® (Hylan G-F 20) in Chinese Subjects With Symptomatic Osteoarthritis of the Knee(s) Completed NCT01586338 Phase 4 Hylan G-F 20
26 Impact of SSKI Pre-Treatment on Blood Loss in Thyroidectomy for Graves Disease Completed NCT00946296 Phase 4 Potassium Iodide
27 MoviPrep® Versus HalfLytely® for Colon Cleansing: An Investigator-blinded, Randomized Trial. Completed NCT00779649 Phase 4
28 Efficacy and Safety of Intra-Articular Injections of Durolane® in the Treatment of Osteoarthritis in the Knee Completed NCT00731289 Phase 4 hyaluronic acid;triamcinolone
29 An Open-label, Multi-center, 6-month Extension Study Comparing the Long-term Efficacy and Safety of Lucentis (Ranibizumab) Intravitreal Injections Versus Ozurdex (Dexamethasone) Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) or Central Retinal Vein Occlusion (CRVO) Who Have Completed the Respective Core Study (CRFB002EDE17 or CRFB002EDE18) Completed NCT01580020 Phase 4 Dexamethasone
30 A Phase IV, Open Label, Multi-center Study to Assess the Effect of Intravitreal Injections of Macugen (Pegaptanib Sodium Injection) Administered Every 6 Weeks for 48 Weeks on the Corneal Endothelium. Completed NCT01573572 Phase 4 pegaptanib sodium injection
31 Pharmacokinetics of Lopinavir Crushed Versus Whole Tablets in Pediatric Patients Completed NCT00810108 Phase 4 lopinavir/ritonavir (Kaletra®) tablets
32 A Randomized Controlled Trial Comparing the Efficacy and Acceptability of Sodium Picosulphate/Magnesium Citrate With Low-volume PEG -Ascorbic Acid as Preparation for Colonoscopy. Completed NCT01603654 Phase 4 sodium picosulphate magnesium citrate;low-volume PEG -ascorbic acid
33 Visual Performance After Implantation of an Aspheric Multifocal Diffractive Intraocular Lens Completed NCT01065064 Phase 4
34 Effects of White Wine vs. Tea Intake During and an Alcoholic Digestive Following a High Fat, High Calorie Cheese Fondue Meal on Gastric Emptying and Abdominal Symptoms in Healthy Volunteers Completed NCT00943696 Phase 4
35 Comparison of Silver Modified and Conventional Atraumatic Restorative Treatment Modalities in Primary Molars in a Group of Egyptian School Children. A Randomized Controlled Trial Recruiting NCT03881020 Phase 4 Silver diamine Fluoride 38%
36 Evaluation of MTA Pulpotomy, Biodentine Pulpotomy, and Glass Ionomer Indirect Pulp Treatment in Primary Teeth Recruiting NCT02298504 Phase 4 Mineral Trioxide Aggregate;Biodentin
37 Regenerative Potential of Advanced Platelet Rich Fibrin (A-PRF) and Bioactive Glass (Perioglas®) Bone Graft in the Treatment of Intrabony Defects; A Comparative Clinico Radiographic Study. Recruiting NCT04767243 Phase 4 open flap debridement and filled Bioactive glass (Perioglas®) and A-PRF
38 A Randomized, Placebo-controlled, Parallel Group Study Designed to Assess the Change in Mucociliary Clearance After 12 Weeks of Treatment With Dupilumab in Patients With Moderate to Severe Asthma Not yet recruiting NCT04743791 Phase 4 Dupilumab
39 A Phase 4, Randomized, Double-masked, Placebo-controlled, Multicenter Trial to Evaluate the Efficacy and Safety of TEPEZZA® in Treating Patients With Chronic (Inactive) Thyroid Eye Disease Not yet recruiting NCT04583735 Phase 4 Placebo
40 Histologic and Immunohistochemical Study of Fibronectin and Tenascin in Human Teeth Pulp Capped With MTA and NEC Terminated NCT01066533 Phase 4
41 A Phase IV, Single Center Pilot Study Using Alemtuzumab (Campath-1H) Induction Combined With Prednisone-Free, Calcineurin-Inhibitor-Free Immunosuppression in Kidney Transplantation Terminated NCT00166712 Phase 4 Tacrolimus (TAC);Sirolimus;Alemtuzumab;Mycophenolate mofetil (MMF)
42 The Effectiveness of Resin-Modified Glass Ionomer Varnish in Preventing White Spot Lesions During Fixed Appliance Orthodontic Therapy Withdrawn NCT03711097 Phase 4 Vanish XT Dental Varnish
43 Olfactory Retraining Therapy and Budesonide Nasal Rinse for Anosmia Treatment in Patients Post-CoVID 19. A Randomized Controlled Trial Withdrawn NCT04374474 Phase 4 corticosteroid nasal irrigation
44 A 12-Week, Double-Blind, Placebo-Controlled Study To Evaluate The Impact Of Donepezil Hydrochloride (Aricept) On Behavioral And Psychological Symptoms In Patients With Severe Alzheimer's Disease Withdrawn NCT00711204 Phase 4 Donepezil Hydrochloride (Aricept)
45 Randomized Control Trial of Magnesium-Based Trigger Point Injections vs. Lidocaine-Only Trigger Point Injections for Relief of Chronic Myofascial Pelvic Pain Unknown status NCT02728037 Phase 3 lidocaine;magnesium sulfate, bicarbonate, dextrose.
46 Efficacy of Furosemide Versus Vascular Filling in Patients With Acute Myocardial Infarction With Right Ventricular Extension: A Multicentric Randomized Controlled Trial Unknown status NCT02905760 Phase 3 Furosemide;Placebo filling;Placebo furosemide;Vascular filling
47 Clinical and Radiographical Evaluation of New Bioactive Dentine Substitute (Biodentine) Versus Glass Ionomer Cement in Treatment of Very Deep Carious Lesions -Randomized Clinical Trial Unknown status NCT02868918 Phase 3 biodentine;glass ionomer cement
48 A Prospective Study of Ablation of Pulmonary Focal Pure Ground Glass Opacity Unknown status NCT01429649 Phase 3
49 Comparing of Computed Tomography Guided Microcoil Localization and Hook Wire Localization for Pulmonary Small Nodules and Ground-glass Opacity Prior to Thoracoscopic Resection Unknown status NCT02908646 Phase 3
50 Study to Assess the Efficacy and Safety of Oral Potassium Citrate on the Prevention of Nephrocalcinosis in Extreme Premature. Unknown status NCT01756547 Phase 3 Potassium Citrate;Placebo

Search 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 29 SATB2

Anatomical Context for Glass Syndrome

MalaCards organs/tissues related to Glass Syndrome:

40
Bone, Eye, Liver, Prostate, Colon, Spinal Cord, Breast

Publications for Glass Syndrome

Articles related to Glass Syndrome:

(show all 50)
# Title Authors PMID Year
1
Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 57 25 6
28151491 2017
2
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. 57 25 6
25118029 2015
3
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome. 25 57 6
25251319 2014
4
Further delineation of the SATB2 phenotype. 25 57 6
24301056 2014
5
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 25 6 57
23925499 2013
6
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 25 57 6
17377962 2007
7
SATB2-associated syndrome presenting with Rett-like phenotypes. 25 6 20
26596517 2016
8
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 25 6 20
25885067 2015
9
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 57 25
24363063 2014
10
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. 57 25
21343628 2011
11
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. 57 25
20034071 2010
12
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 57 25
19576302 2009
13
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 57 25
19668335 2009
14
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 25 57
16179223 2005
15
Identification of SATB2 as the cleft palate gene on 2q32-q33. 57 25
12915443 2003
16
A locus for isolated cleft palate, located on human chromosome 2q32. 25 57
10417281 1999
17
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 25 57
2918541 1989
18
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. 25 20
27774744 2017
19
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
20
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 6
25356970 2015
21
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
22
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. 57
21295280 2011
23
A chromosomal deletion map of human malformations. 57
9758599 1998
24
Bone health and SATB2-associated syndrome. 25
28787087 2018
25
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 25
28139846 2017
26
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 25
28211976 2017
27
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. 25
27409069 2016
28
Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1. 25
26811410 2016
29
First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome. 25
25729738 2015
30
The clinical significance of small copy number variants in neurodevelopmental disorders. 25
25106414 2014
31
Genome sequencing identifies major causes of severe intellectual disability. 25
24896178 2014
32
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. 25
24884844 2014
33
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism. 25
23918240 2013
34
Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. 25
23840981 2013
35
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 25
23020937 2012
36
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. 25
22521361 2012
37
A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages. 25
21089028 2010
38
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. 25
19284984 2009
39
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 25
19170718 2009
40
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. 25
18371933 2008
41
SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons. 25
18333962 2008
42
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 25
16960803 2006
43
SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 25
16751105 2006
44
SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. 25
14701874 2003
45
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
46
[Analysis of SATB2 gene mutation in a child with Glass syndrome]. 61
31302918 2019
47
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation. 61
27915340 2016
48
Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay. 61
25925190 2015
49
[Computed tomography in the differential diagnosis of disseminated pulmonary tuberculosis and fibrosing alveolitis]. 61
17598461 2007
50
[Role of endothelial dysfunction and coagulation disorders in the development of pulmonary fibrosis in patients with interstitial lung diseases]. 61
15344689 2004

Variations for Glass Syndrome

ClinVar genetic disease variations for Glass Syndrome:

6 (show top 50) (show all 174)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SATB2 NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup Duplication Pathogenic 217315 GRCh37: 2:200228772-200263785
GRCh38: 2:199364049-199399062
2 SATB2 NM_001172509.1(SATB2):c.170_346dup Duplication Pathogenic 218098 GRCh37: 2:200298061-200298237
GRCh38: 2:199391823-199446462
3 SATB2 NM_001172509.2(SATB2):c.1127_1128GT[2] (p.Ser378fs) Microsatellite Pathogenic 224131 rs875989830 GRCh37: 2:200213465-200213466
GRCh38: 2:199348742-199348743
4 SATB2 NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) SNV Pathogenic 235893 rs878853163 GRCh37: 2:200188573-200188573
GRCh38: 2:199323850-199323850
5 SATB2 NM_001172509.2(SATB2):c.1627del (p.Arg543fs) Deletion Pathogenic 431132 rs1135401803 GRCh37: 2:200173596-200173596
GRCh38: 2:199308873-199308873
6 SATB2 NM_001172509.2(SATB2):c.1592dup (p.Asn531fs) Duplication Pathogenic 469544 rs1553544158 GRCh37: 2:200173630-200173631
GRCh38: 2:199308907-199308908
7 SATB2 NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser) SNV Pathogenic 545530 rs1553544187 GRCh37: 2:200173680-200173680
GRCh38: 2:199308957-199308957
8 SATB2 NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) SNV Pathogenic 573402 rs1559052032 GRCh37: 2:200298064-200298064
GRCh38: 2:199433341-199433341
9 SATB2 NC_000002.12:g.(?_199348681)_(199433534_?)del Deletion Pathogenic 584397 GRCh37: 2:200213404-200298257
GRCh38: 2:199348681-199433534
10 SATB2 NM_001172509.2(SATB2):c.346+2T>G SNV Pathogenic 584419 rs1559052017 GRCh37: 2:200298059-200298059
GRCh38: 2:199433336-199433336
11 SATB2 NM_001172509.2(SATB2):c.1945dup (p.Ser649fs) Duplication Pathogenic 584424 rs1559136052 GRCh37: 2:200137190-200137191
GRCh38: 2:199272467-199272468
12 SATB2 NM_001172509.2(SATB2):c.2018dup (p.His673fs) Duplication Pathogenic 584425 rs1559136015 GRCh37: 2:200137117-200137118
GRCh38: 2:199272394-199272395
13 SATB2 NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter) SNV Pathogenic 656899 rs1391758713 GRCh37: 2:200245122-200245122
GRCh38: 2:199380399-199380399
14 SATB2 NM_001172509.2(SATB2):c.1610del (p.Asn537fs) Deletion Pathogenic 691258 rs1574492395 GRCh37: 2:200173613-200173613
GRCh38: 2:199308890-199308890
15 SATB2 GRCh37/hg19 2q33.1(chr2:200213361-200233633) copy number loss Pathogenic 625775 GRCh37: 2:200213361-200233633
GRCh38:
16 SATB2 NM_001172509.2(SATB2):c.1826del (p.Asp609fs) Deletion Pathogenic 666260 rs1574459072 GRCh37: 2:200137310-200137310
GRCh38: 2:199272587-199272587
17 SATB2 NM_001172509.2(SATB2):c.474-2A>G SNV Pathogenic 801850 rs1574566973 GRCh37: 2:200245212-200245212
GRCh38: 2:199380489-199380489
18 SATB2 NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly) SNV Pathogenic 848669 GRCh37: 2:200193620-200193620
GRCh38: 2:199328897-199328897
19 SATB2 NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs) Deletion Pathogenic 840533 GRCh37: 2:200137115-200137134
GRCh38: 2:199272392-199272411
20 SATB2 NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs) Duplication Pathogenic 958421 GRCh37: 2:200193459-200193460
GRCh38: 2:199328736-199328737
21 SATB2 NM_001172509.2(SATB2):c.1504del (p.Gln502fs) Deletion Pathogenic 973264 GRCh37: 2:200188564-200188564
GRCh38: 2:199323841-199323841
22 SATB2 NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) SNV Pathogenic 973276 GRCh37: 2:200298089-200298089
GRCh38: 2:199433366-199433366
23 SATB2 NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) Deletion Pathogenic 976026 GRCh37: 2:200213875-200213876
GRCh38: 2:199349152-199349153
24 SATB2 NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) SNV Pathogenic 422062 rs1064795530 GRCh37: 2:200173527-200173527
GRCh38: 2:199308804-199308804
25 SATB2 NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) SNV Pathogenic 280687 rs886041847 GRCh37: 2:200193522-200193522
GRCh38: 2:199328799-199328799
26 SATB2 NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) SNV Pathogenic 373069 rs1057518190 GRCh37: 2:200193611-200193611
GRCh38: 2:199328888-199328888
27 SATB2 NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) Deletion Pathogenic 807482 rs1574532220 GRCh37: 2:200213491-200213494
GRCh38: 2:199348768-199348771
28 SATB2 NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs) Insertion Pathogenic 807483 rs1574566833 GRCh37: 2:200245130-200245131
GRCh38: 2:199380407-199380408
29 SATB2 NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) SNV Pathogenic 807484 rs1357010510 GRCh37: 2:200298182-200298182
GRCh38: 2:199433459-199433459
30 overlap with 40 genes GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Pathogenic 977790 GRCh37: 2:190345272-200212289
GRCh38:
31 overlap with 22 genes GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1 copy number loss Pathogenic 983310 GRCh37: 2:197359024-201383462
GRCh38:
32 SATB2 NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) SNV Pathogenic 2519 rs137853127 GRCh37: 2:200213882-200213882
GRCh38: 2:199349159-199349159
33 SATB2 NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) SNV Pathogenic 381575 GRCh37: 2:200213432-200213432
GRCh38: 2:199348709-199348709
34 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) SNV Pathogenic 522269 rs1553547838 GRCh37: 2:200193432-200193432
GRCh38: 2:199328709-199328709
35 SATB2 NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) SNV Pathogenic 208673 rs797044874 GRCh37: 2:200213750-200213750
GRCh38: 2:199349027-199349027
36 SATB2 NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter) SNV Pathogenic 584420 rs1558995207 GRCh37: 2:200213849-200213849
GRCh38: 2:199349126-199349126
37 SATB2 NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly) SNV Pathogenic 584421 rs1559174854 GRCh37: 2:200213455-200213455
GRCh38: 2:199348732-199348732
38 SATB2 NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter) SNV Pathogenic 584422 rs1559174813 GRCh37: 2:200213426-200213426
GRCh38: 2:199348703-199348703
39 SATB2 NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln) SNV Pathogenic 584423 rs1559164403 GRCh37: 2:200193621-200193621
GRCh38: 2:199328898-199328898
40 SATB2 NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) SNV Pathogenic 280282 rs886041516 GRCh37: 2:200193521-200193521
GRCh38: 2:199328798-199328798
41 SATB2 NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter) SNV Pathogenic 584426 rs1559135904 GRCh37: 2:200137062-200137062
GRCh38: 2:199272339-199272339
42 SATB2 NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter) SNV Pathogenic 1032667 GRCh37: 2:200213462-200213462
GRCh38: 2:199348739-199348739
43 SATB2 NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg) SNV Pathogenic 981628 GRCh37: 2:200193633-200193633
GRCh38: 2:199328910-199328910
44 SATB2 NM_001172509.2(SATB2):c.597+1G>A SNV Pathogenic/Likely pathogenic 620021 rs1559016679 GRCh37: 2:200245086-200245086
GRCh38: 2:199380363-199380363
45 SATB2 NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile) SNV Likely pathogenic 216996 rs863224917 GRCh37: 2:200213428-200213428
GRCh38: 2:199348705-199348705
46 SATB2 NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs) Deletion Likely pathogenic 666577 rs1574510975 GRCh37: 2:200193586-200193589
GRCh38: 2:199328863-199328866
47 SATB2 NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) SNV Likely pathogenic 801849 rs1574532452 GRCh37: 2:200213672-200213672
GRCh38: 2:199348949-199348949
48 SATB2 NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) SNV Likely pathogenic 436636 rs1553538919 GRCh37: 2:200137172-200137172
GRCh38: 2:199272449-199272449
49 SATB2 NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val) SNV Likely pathogenic 1032668 GRCh37: 2:200193500-200193500
GRCh38: 2:199328777-199328777
50 SATB2 NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser) SNV Likely pathogenic 973256 GRCh37: 2:200193509-200193509
GRCh38: 2:199328786-199328786

Copy number variations for Glass Syndrome from CNVD:

7
# 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

GO Terms for Glass Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.73 SRCAP SATB2 SATB1 MED13L DLX6 ARID1B
2 chromatin organization GO:0006325 9.26 SRCAP SATB2 SATB1 ARID1B
3 ATP-dependent chromatin remodeling GO:0043044 9.16 SRCAP ARID1B
4 chromatin remodeling GO:0006338 8.8 SATB2 SATB1 ARID1B

Sources for Glass 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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