GLASS
MCID: GLS018
MIFTS: 53

Glass Syndrome (GLASS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 56 12 36
Chromosome 2q32-Q33 Deletion Syndrome 56 12 29 13 6 15 71
2q32q33 Microdeletion Syndrome 12 58
Monosomy 2q32q33 12 58
Monosomy 2q32 12 58
2q32-Q33 Microdeletion Syndrome 12
Monosomy 2q32-Q33 12
Syndrome, Glass 39
Del(2)(q32q33) 58
Del(2)(q32) 58
Glass 56

Characteristics:

Orphanet epidemiological data:

58
2q32q33 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable manifestations


HPO:

31
glass syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Glass Syndrome

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.

MalaCards based summary : Glass Syndrome, also known as chromosome 2q32-q33 deletion syndrome, is related to body dysmorphic disorder and uncombable hair syndrome 1, and has symptoms including thin, sparse hair An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2). The drugs Tocopherol and Naproxen have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and breast, and related phenotypes are global developmental delay and delayed speech and language development

OMIM : 56 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)

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 854)
# Related Disease Score Top Affiliating Genes
1 body dysmorphic disorder 29.0 PACS1 NUDT9
2 uncombable hair syndrome 1 12.1
3 satb2-associated syndrome 11.8
4 pulmonary venoocclusive disease 2, autosomal recessive 11.5
5 pulmonary venoocclusive disease 1, autosomal dominant 11.5
6 cataract 11.4
7 refractive error 11.4
8 amblyopia 11.4
9 presbyopia 11.4
10 esotropia 11.4
11 pica disease 11.3
12 coloboma of macula 11.3
13 keratoconus 11.3
14 pulmonary venoocclusive disease 11.3
15 mercury poisoning 11.3
16 brittle bone disorder 11.2
17 albinism, oculocutaneous, type ib 11.2
18 brittle cornea syndrome 2 11.2
19 corneal endothelial dystrophy type 2 11.2
20 adie pupil 11.0
21 macular dystrophy, retinal, 1, north carolina type 11.0
22 microcoria, congenital 11.0
23 capillary malformations, congenital 11.0
24 bietti crystalline corneoretinal dystrophy 11.0
25 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.0
26 blue cone monochromacy 11.0
27 hyperferritinemia with or without cataract 11.0
28 supranuclear palsy, progressive, 1 11.0
29 corneal dystrophy, avellino type 11.0
30 west nile virus 11.0
31 porphyria, acute hepatic 11.0
32 uncombable hair syndrome 2 11.0
33 uncombable hair syndrome 3 11.0
34 oculocutaneous albinism 11.0
35 baritosis 11.0
36 abducens nerve disease 11.0
37 ocular motility disease 11.0
38 glassy cell variant cervical adenosquamous carcinoma 11.0
39 ocular albinism, x-linked 11.0
40 glassy cell carcinoma of the cervix 11.0
41 neonatal adrenoleukodystrophy 11.0
42 trichostasis spinulosa 11.0
43 wagner syndrome 11.0
44 hereditary neuropathies 11.0
45 hair whorl 10.7
46 adenocarcinoma 10.7
47 lung cancer susceptibility 3 10.6
48 aging 10.5
49 adenocarcinoma in situ 10.5
50 bronchiolo-alveolar adenocarcinoma 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 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
11 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
12 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
13 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
14 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
15 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
16 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
17 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
18 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
19 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
20 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
21 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
22 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
23 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
24 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
25 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
26 toe clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001863
27 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
28 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
29 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
30 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
31 incomprehensible speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002546
32 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
33 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
34 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
35 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
36 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
37 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
38 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
39 convex nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000444
40 sparse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0008070
41 conspicuously happy disposition 58 31 occasional (7.5%) Occasional (29-5%) HP:0100024
42 oligodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000677
43 malar flattening 31 HP:0000272
44 frontal bossing 31 HP:0002007
45 intellectual disability 31 HP:0001249
46 seizures 31 HP:0001250
47 inguinal hernia 31 HP:0000023
48 smooth philtrum 31 HP:0000319
49 midface retrusion 31 HP:0011800
50 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Abdomen External Features:
inguinal hernia

Head And Neck Head:
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
happy demeanor
aggression

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

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

Head And Neck Face:
frontal bossing
micrognathia
smooth philtrum
high forehead
long face
more
Growth Height:
short stature

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

Skin Nails Hair Skin:
thin skin

Skeletal Hands:
arachnodactyly
camptodactyly

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

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

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 788)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
2
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
8
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
9
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
10
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
11
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
12
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
13
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
14
Hexetidine Approved, Investigational Phase 4 141-94-6
15
Bisacodyl Approved Phase 4 603-50-9
16
Calcium polycarbophil Approved Phase 4 126040-58-2
17
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
18
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
19
Magnesium oxide Approved Phase 4 1309-48-4 14792
20
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
21
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
22
Polyestradiol phosphate Approved Phase 4 28014-46-2
23
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
24
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
25
Ceftibuten Approved, Investigational Phase 4 97519-39-6 5282241 5282242
26
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
27
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
28
Cefixime Approved, Investigational Phase 4 79350-37-1 54362 5362065
29
Simvastatin Approved Phase 4 79902-63-9 54454
30
Artemether Approved Phase 4 71963-77-4 119380 68911
31
Lumefantrine Approved Phase 4 82186-77-4 6437380
32
Lopinavir Approved Phase 4 192725-17-0 92727
33
Topiramate Approved Phase 4 97240-79-4 5284627
34
Phentermine Approved, Illicit Phase 4 122-09-8 4771
35
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
36
Atorvastatin Approved Phase 4 134523-00-5 60823
37
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
38
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
39
Tibolone Approved, Investigational Phase 4 5630-53-5
40
Drospirenone Approved Phase 4 67392-87-4 68873
41
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
42
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
43
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
44
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
45
Metronidazole Approved Phase 4 443-48-1 4173
46
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
47
Dimethyl sulfoxide Approved, Vet_approved Phase 4 67-68-5 679
48
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
49
Clarithromycin Approved Phase 4 81103-11-9 84029
50
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594

Interventional clinical trials:

(show top 50) (show all 1226)
# Name Status NCT ID Phase Drugs
1 Efficacy of Calcium Silicate Pulp-capping; a Randomized Controlled Clinical Trial Unknown status NCT02201641 Phase 4
2 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
3 Immediate Effect and Substantivity of the Essential Oils Without Alcohol on the Oral Biofilm in Situ. A Randomized Clinical Trial Unknown status NCT02946814 Phase 4 essential oils;essential oils without mouthwash;sterile water
4 Transarterial Radioembolization Versus Chemoembolization for the Treatment of Advanced Hepatocellular Carcinoma Unknown status NCT02729506 Phase 4
5 COLITIS: Clostridial Infection and Oral Lavage -Improving Treatment Before Illness Becomes Severe Unknown status NCT01630096 Phase 4 Nu-Lytely
6 Maintenance of Vitamin D Sufficiency With Oral Vitamin D Supplementation in Malaysian Women of Malay and Indian Ethnicity With Post Menopausal Osteoporosis Unknown status NCT02389179 Phase 4 Vitamin D3
7 Helicobacter Pylori Eradication Using a Bismuth Quadruple Therapy Among Asymptomatically Infected Adults in El Paso, Texas: A Pilot Study. Unknown status NCT01335334 Phase 4 bismuth subcitrate potassium, metronidazole,tetracycline hydrochloride and omeprazole
8 Brain Mechanisms For Clinical Placebo in Chronic Pain: A Randomized Clinical Trial of Placebo, Active Treatment, and No Treatment in Chronic Back Pain Unknown status NCT02986334 Phase 4 Naproxen;Omeprazole;Placebo
9 Bronchiolitis All-study, SE-Norway What is the Optimal Inhalation Treatment for Children 0-12 Months With Acute Bronchiolitis? Unknown status NCT00817466 Phase 4 Racemic adrenaline;Isotonic saline
10 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
11 Comparison of Prilosec OTC® Versus Prevacid ® for Gastric Acid Suppression Completed NCT00903448 Phase 4 Prilosec OTC (omeprazole-magnesium);Prevacid
12 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 )
13 Fuji Type VII Sealants Versus Resin Based Sealants. A Clinical Trial Completed NCT02795728 Phase 4
14 Bioactive Glass Granules as Bone Graft Substitute in Filling Material of Bone Defects Completed NCT01304121 Phase 4
15 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
16 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
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 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
19 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
20 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
21 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
22 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
23 A 17 Week, Investigator-initiated, Single-center, Double-blind, Randomized, Placebo-controlled, Cross-over Trial of Pregabalin in Essential Tremor Completed NCT00646451 Phase 4 pregabalin;placebo capsules
24 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
25 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
26 The Change of Bone Markers After Low Dose Alendronate in Postmenopausal Women Completed NCT00460057 Phase 4 Alendronate
27 An Exploratory Clinical Study to Evaluate the Efficacy of Two Currently Marketed Toothpastes Containing Different Concentrations of a Tubule Occlusion Agent Completed NCT01075256 Phase 4
28 Effect of Soymilk Replacement on Anthropometric and Blood Pressure Value Completed NCT01253876 Phase 4
29 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
30 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
31 Impact of SSKI Pre-Treatment on Blood Loss in Thyroidectomy for Graves Disease Completed NCT00946296 Phase 4 Potassium Iodide
32 Phase IV Non Comparative Study of the Impact of Dietary Fiber Deficiency Correction Using Mucofalk® on Clinical Features and Motor Function of the Esophagus in Patients With Non-erosive Gastroesophageal Reflux Disease Completed NCT01882088 Phase 4 Mucofalk
33 Effect of Topical Dexamethasone on Histologic Response of Human Dental Pulp Completed NCT02574468 Phase 4 Dexamethasone applied on pulp or Dexamethasone did not applied on pulp
34 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
35 Antiplaque Effect of Essential Oils and 0.2% Chlorhexidine on an in Situ Model of Oral Biofilm Growth: a Randomised Clinical Trial. Completed NCT02124655 Phase 4 Essential oils;0.2% chlorhexidine;Sterile water
36 Evaluation of Postoperative Pain After Using 3MIX-TATIN Versus Calcium Hydroxide Iodoform Paste In Necrotic Primary Molars Treated by Lesion Sterilization and Tissue Repair Therapy: A Randomized Controlled Trial Completed NCT03084601 Phase 4 Calcium Hydroxide, Iodoform, paste;3-mixtatin
37 Efficacy and Safety of Intra-Articular Injections of Durolane® in the Treatment of Osteoarthritis in the Knee Completed NCT00731289 Phase 4 hyaluronic acid;triamcinolone
38 Pharmacokinetics of Lopinavir Crushed Versus Whole Tablets in Pediatric Patients Completed NCT00810108 Phase 4 lopinavir/ritonavir (Kaletra®) tablets
39 MoviPrep® Versus HalfLytely® for Colon Cleansing: An Investigator-blinded, Randomized Trial. Completed NCT00779649 Phase 4
40 Peripheral Pharmacodynamics of Phentermine-Topiramate in Obese Patients Completed NCT01834404 Phase 4 Phentermine-Topiramate ER;Placebo
41 Effect of Exenatide in Obese Patients With Accelerated Gastric Emptying Completed NCT02160990 Phase 4 Exenatide;Placebo
42 A Prospective Multi-center Randomized Study of the Difference in Diagnostic Yield Between EUSFNA Needles With and Without a Side Port in Pancreatic Masses Completed NCT02092519 Phase 4
43 Comparison of the Ultra-low-dose Veo Algorithm With the Gold Standard Filtered Back Projection for Detecting Pulmonary Asbestos-related Conditions Completed NCT01955018 Phase 4
44 Reduction in YEllow Plaque by Aggressive Lipid LOWering Therapy. (YELLOW Trial) Completed NCT01567826 Phase 4 standard of care lipid therapy;Aggressive lipid therapy
45 Imaging the Effect of Experimental Stress on Small and Large Bowel Water During Fructose Absorption Completed NCT01763281 Phase 4 CRH;Placebo
46 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
47 Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified Phytosterols In Chilean Subjects With Hypercholesterolemia Completed NCT02644109 Phase 4
48 Maximal Stimulation and Delayed Fertilization for Diminished Ovarian Reserve: a Randomized Pilot Study Completed NCT01921166 Phase 4 clomiphene plus gonadotropins;Leuprolide flare
49 A 5-year Clinical Trial Assessing the Effects of a Surface Sealant on Composite Resin Class I Restorations Completed NCT02899247 Phase 4
50 Varenicline Treatment for Smoking Cessation in Patients With Bipolar Disorder Completed NCT01010204 Phase 4 Varenicline;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
Lung, Bone, Breast, Liver, Brain, Testes, Skin

Publications for Glass Syndrome

Articles related to Glass Syndrome:

(show all 24)
# Title Authors PMID Year
1
Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 56 6
28151491 2017
2
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. 56 6
25118029 2015
3
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome. 56 6
25251319 2014
4
Further delineation of the SATB2 phenotype. 56 6
24301056 2014
5
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 56 6
23925499 2013
6
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 56 6
17377962 2007
7
SATB2-Associated Syndrome 6
29023086 2017
8
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
9
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 56
24363063 2014
10
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. 56
21343628 2011
11
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. 56
21295280 2011
12
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. 56
20034071 2010
13
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 56
19576302 2009
14
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 56
19668335 2009
15
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 56
16179223 2005
16
Identification of SATB2 as the cleft palate gene on 2q32-q33. 56
12915443 2003
17
A locus for isolated cleft palate, located on human chromosome 2q32. 56
10417281 1999
18
A chromosomal deletion map of human malformations. 56
9758599 1998
19
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 56
2918541 1989
20
[Analysis of SATB2 gene mutation in a child with Glass syndrome]. 61
31302918 2019
21
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation. 61
27915340 2016
22
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
23
[Computed tomography in the differential diagnosis of disseminated pulmonary tuberculosis and fibrosing alveolitis]. 61
17598461 2007
24
[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 73) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SATB2 NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dupduplication Pathogenic 217315 2:200228772-200263785 2:199364049-199399062
2 SATB2 NM_001172509.1(SATB2):c.170_346dupduplication Pathogenic 218098 2:200298061-200298237 2:199391823-199446462
3 SATB2 NM_001172509.2(SATB2):c.1127_1128GT[2] (p.Ser378fs)short repeat Pathogenic 224131 rs875989830 2:200213465-200213466 2:199348742-199348743
4 SATB2 NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)SNV Pathogenic 2519 rs137853127 2:200213882-200213882 2:199349159-199349159
5 SATB2 NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter)SNV Pathogenic 235893 rs878853163 2:200188573-200188573 2:199323850-199323850
6 SATB2 NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)SNV Pathogenic 280687 rs886041847 2:200193522-200193522 2:199328799-199328799
7 SATB2 NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)SNV Pathogenic 280282 rs886041516 2:200193521-200193521 2:199328798-199328798
8 SATB2 NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)SNV Pathogenic 373069 rs1057518190 2:200193611-200193611 2:199328888-199328888
9 SATB2 NM_001172509.2(SATB2):c.1627del (p.Arg543fs)deletion Pathogenic 431132 rs1135401803 2:200173596-200173596 2:199308873-199308873
10 SATB2 NM_001172509.2(SATB2):c.1592dup (p.Asn531fs)duplication Pathogenic 469544 rs1553544158 2:200173630-200173631 2:199308907-199308908
11 SATB2 NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)SNV Pathogenic 208673 rs797044874 2:200213750-200213750 2:199349027-199349027
12 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)SNV Pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709
13 SATB2 NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser)SNV Pathogenic 545530 rs1553544187 2:200173680-200173680 2:199308957-199308957
14 SATB2 NC_000002.11:g.(?_200213404)_(200298257_?)deldeletion Pathogenic 584397 2:200213404-200298257 2:199348681-199433534
15 SATB2 NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)SNV Pathogenic 584421 rs1559174854 2:200213455-200213455 2:199348732-199348732
16 SATB2 NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)SNV Pathogenic 584426 rs1559135904 2:200137062-200137062 2:199272339-199272339
17 SATB2 NM_001172509.2(SATB2):c.2018dup (p.His673fs)duplication Pathogenic 584425 rs1559136015 2:200137117-200137118 2:199272394-199272395
18 SATB2 NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)duplication Pathogenic 584424 rs1559136052 2:200137190-200137191 2:199272467-199272468
19 SATB2 NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)SNV Pathogenic 584423 rs1559164403 2:200193621-200193621 2:199328898-199328898
20 SATB2 NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)SNV Pathogenic 584422 rs1559174813 2:200213426-200213426 2:199348703-199348703
21 SATB2 NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)SNV Pathogenic 584420 rs1558995207 2:200213849-200213849 2:199349126-199349126
22 SATB2 NM_001172509.2(SATB2):c.346+2T>GSNV Pathogenic 584419 rs1559052017 2:200298059-200298059 2:199433336-199433336
23 SATB2 GRCh37/hg19 2q33.1(chr2:200213361-200233633)copy number loss Pathogenic 625775 2:200213361-200233633
24 SATB2 NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)SNV Pathogenic 573402 rs1559052032 2:200298064-200298064 2:199433341-199433341
25 SATB2 NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter)SNV Pathogenic 656899 2:200245122-200245122 2:199380399-199380399
26 SATB2 NM_001172509.2(SATB2):c.1826del (p.Asp609fs)deletion Pathogenic 666260 2:200137310-200137310 2:199272587-199272587
27 SATB2 NM_001172509.2(SATB2):c.1610del (p.Asn537fs)deletion Pathogenic 691258 2:200173613-200173613 2:199308890-199308890
28 SATB2 NM_001172509.2(SATB2):c.474-2A>GSNV Pathogenic 801850 2:200245212-200245212 2:199380489-199380489
29 SATB2 NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs)deletion Pathogenic 807482 2:200213491-200213494 2:199348768-199348771
30 SATB2 NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs)insertion Pathogenic 807483 2:200245130-200245131 2:199380407-199380408
31 SATB2 NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter)SNV Pathogenic 807484 2:200298182-200298182 2:199433459-199433459
32 SATB2 NM_001172509.2(SATB2):c.597+1G>ASNV Pathogenic/Likely pathogenic 620021 rs1559016679 2:200245086-200245086 2:199380363-199380363
33 SATB2 NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)SNV Pathogenic/Likely pathogenic 381575 rs1057521083 2:200213432-200213432 2:199348709-199348709
34 SATB2 NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)SNV Likely pathogenic 422062 rs1064795530 2:200173527-200173527 2:199308804-199308804
35 SATB2 NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)SNV Likely pathogenic 436636 rs1553538919 2:200137172-200137172 2:199272449-199272449
36 SATB2 NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile)SNV Likely pathogenic 216996 rs863224917 2:200213428-200213428 2:199348705-199348705
37 SATB2 NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)SNV Likely pathogenic 801849 2:200213672-200213672 2:199348949-199348949
38 SATB2 NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)deletion Likely pathogenic 666577 2:200193586-200193589 2:199328863-199328866
39 SATB2 NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter)SNV Conflicting interpretations of pathogenicity 437864 rs1553493553 2:200233354-200233354 2:199368631-199368631
40 SATB2 NC_000002.11:g.(?_200173463)_(200320780_?)dupduplication Uncertain significance 469539 2:200173463-200320780 2:199308740-199456057
41 SATB2 NM_001172509.2(SATB2):c.855A>G (p.Gln285=)SNV Uncertain significance 469565 rs904363589 2:200213742-200213742 2:199349019-199349019
42 SATB2 NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr)SNV Uncertain significance 537273 rs142825652 2:200213735-200213735 2:199349012-199349012
43 SATB2 NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu)SNV Uncertain significance 581027 rs1559136030 2:200137136-200137136 2:199272413-199272413
44 SATB2 NM_001172509.2(SATB2):c.1173+4C>ASNV Uncertain significance 571732 rs376920785 2:200213420-200213420 2:199348697-199348697
45 SATB2 NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile)SNV Uncertain significance 581209 rs1201673032 2:200173563-200173563 2:199308840-199308840
46 SATB2 NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val)SNV Uncertain significance 575584 rs1559161533 2:200188627-200188627 2:199323904-199323904
47 SATB2 NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr)SNV Uncertain significance 537274 rs754385480 2:200213597-200213597 2:199348874-199348874
48 SATB2 NM_001172509.2(SATB2):c.2047G>A (p.Ala683Thr)SNV Uncertain significance 537272 rs372032415 2:200137089-200137089 2:199272366-199272366
49 SATB2 NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr)SNV Uncertain significance 537275 rs773467832 2:200233333-200233333 2:199368610-199368610
50 SATB2 NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser)SNV Uncertain significance 661483 2:200298196-200298196 2:199433473-199433473

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 embryonic pattern specification GO:0009880 8.62 SATB2 PGAP1

Sources for Glass Syndrome

3 CDC
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