GLASS
MCID: GLS018
MIFTS: 51

Glass Syndrome (GLASS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 57 12 37
Chromosome 2q32-Q33 Deletion Syndrome 57 12 29 13 6 15 72
2q32q33 Microdeletion Syndrome 12 59
Monosomy 2q32q33 12 59
Monosomy 2q32 12 59
2q32-Q33 Microdeletion Syndrome 12
Monosomy 2q32-Q33 12
Syndrome, Glass 40
Del(2)(q32q33) 59
Del(2)(q32) 59
Glass 57

Characteristics:

Orphanet epidemiological data:

59
2q32q33 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable manifestations


HPO:

32
glass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060428
OMIM 57 612313
KEGG 37 H02146
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C2676739
Orphanet 59 ORPHA251019
MedGen 42 C2676739
UMLS 72 C2676739

Summaries for Glass Syndrome

KEGG : 37
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 cleft palate, isolated 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, breast and bone, and related phenotypes are global developmental delay and delayed speech and language development

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)

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 859)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 28.8 SATB2 HMOX2
2 uncombable hair syndrome 1 12.1
3 satb2-associated syndrome 11.8
4 pulmonary venoocclusive disease 1, autosomal dominant 11.5
5 cataract 11.4
6 refractive error 11.4
7 amblyopia 11.4
8 presbyopia 11.4
9 esotropia 11.4
10 pica disease 11.3
11 coloboma of macula 11.3
12 keratoconus 11.3
13 pulmonary venoocclusive disease 11.3
14 mercury poisoning 11.3
15 brittle bone disorder 11.2
16 pulmonary venoocclusive disease 2, autosomal recessive 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 bietti crystalline corneoretinal dystrophy 11.0
24 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.0
25 blue cone monochromacy 11.0
26 hyperferritinemia with or without cataract 11.0
27 supranuclear palsy, progressive, 1 11.0
28 corneal dystrophy, avellino type 11.0
29 west nile virus 11.0
30 porphyria, acute hepatic 11.0
31 uncombable hair syndrome 2 11.0
32 uncombable hair syndrome 3 11.0
33 oculocutaneous albinism 11.0
34 baritosis 11.0
35 abducens nerve disease 11.0
36 ocular motility disease 11.0
37 glassy cell variant cervical adenosquamous carcinoma 11.0
38 vitreous disease 11.0
39 ocular albinism, x-linked 11.0
40 duane syndrome type 1 11.0
41 glassy cell carcinoma of the cervix 11.0
42 neonatal adrenoleukodystrophy 11.0
43 trichostasis spinulosa 11.0
44 wagner syndrome 11.0
45 hereditary neuropathies 11.0
46 hair whorl 10.7
47 adenocarcinoma 10.6
48 lung cancer susceptibility 3 10.6
49 aging 10.5
50 adenocarcinoma in situ 10.5

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:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
2 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
5 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
6 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
8 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
9 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
10 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
11 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
12 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
13 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
14 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
15 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
16 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
17 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
18 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
19 broad hallux phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0010059
20 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
21 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
22 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
23 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
24 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
25 toe clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001863
26 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
27 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
28 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
29 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
30 incomprehensible speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002546
31 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
32 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
33 decreased testicular size 59 32 occasional (7.5%) Occasional (29-5%) HP:0008734
34 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
35 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
36 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
37 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
38 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
39 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
40 sparse hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0008070
41 conspicuously happy disposition 59 32 occasional (7.5%) Occasional (29-5%) HP:0100024
42 oligodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000677
43 malar flattening 32 HP:0000272
44 frontal bossing 32 HP:0002007
45 intellectual disability 32 HP:0001249
46 seizures 32 HP:0001250
47 inguinal hernia 32 HP:0000023
48 smooth philtrum 32 HP:0000319
49 hyperactivity 32 HP:0000752
50 thin skin 32 HP:0000963

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Abdomen External Features:
inguinal hernia

Growth Height:
short stature

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
smooth philtrum
micrognathia
long face
high forehead
more
Head And Neck Head:
microcephaly

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 800)
# 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
Racepinephrine Approved Phase 4 329-65-7 838
4
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
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 103577-45-3, 138530-94-6 9578005
8
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
9
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
10
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
11
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
12
Ranibizumab Approved Phase 4 347396-82-1 459903
13
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
14
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
15
Hexetidine Approved, Investigational Phase 4 141-94-6
16
Bisacodyl Approved Phase 4 603-50-9
17
Calcium polycarbophil Approved Phase 4 126040-58-2
18
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
19
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
20
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
21
Magnesium oxide Approved Phase 4 1309-48-4 14792
22
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
23
Polyestradiol phosphate Approved Phase 4 28014-46-2
24
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
25
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
26
Ceftibuten Approved, Investigational Phase 4 97519-39-6 5282241 5282242
27
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
28
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
29
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
30
Simvastatin Approved Phase 4 79902-63-9 54454
31
Cefixime Approved, Investigational Phase 4 79350-37-1 54362 5362065
32
Phentermine Approved, Illicit Phase 4 122-09-8 4771
33
Topiramate Approved Phase 4 97240-79-4 5284627
34
Lumefantrine Approved Phase 4 82186-77-4 6437380
35
Artemether Approved Phase 4 71963-77-4 68911 119380
36
Lopinavir Approved Phase 4 192725-17-0 92727
37
Atorvastatin Approved Phase 4 134523-00-5 60823
38
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
39
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
40
Tibolone Approved, Investigational Phase 4 5630-53-5
41
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
42
Drospirenone Approved Phase 4 67392-87-4 68873
43
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
44
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
45
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
46
Metronidazole Approved Phase 4 443-48-1 4173
47
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
48
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
49
Dimethyl sulfoxide Approved, Vet_approved Phase 4 67-68-5 679
50
Clarithromycin Approved Phase 4 81103-11-9 84029

Interventional clinical trials:

(show top 50) (show all 1182)
# 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 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
7 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
8 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
9 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
10 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
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 Dycal (Indirect pulp treatment);Vitrebond (Indirect pulp treatment)
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 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
19 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
20 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
21 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
22 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
23 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
24 The Change of Bone Markers After Low Dose Alendronate in Postmenopausal Women Completed NCT00460057 Phase 4 Alendronate
25 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
26 Effect of Soymilk Replacement on Anthropometric and Blood Pressure Value Completed NCT01253876 Phase 4
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 Impact of SSKI Pre-Treatment on Blood Loss in Thyroidectomy for Graves Disease Completed NCT00946296 Phase 4 Potassium Iodide
29 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
30 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
31 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
32 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
33 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
34 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
35 Effect of Exenatide in Obese Patients With Accelerated Gastric Emptying Completed NCT02160990 Phase 4 Exenatide;Placebo
36 Efficacy and Safety of Intra-Articular Injections of Durolane® in the Treatment of Osteoarthritis in the Knee Completed NCT00731289 Phase 4 hyaluronic acid;triamcinolone
37 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
38 Peripheral Pharmacodynamics of Phentermine-Topiramate in Obese Patients Completed NCT01834404 Phase 4 Phentermine-Topiramate ER;Placebo
39 MoviPrep® Versus HalfLytely® for Colon Cleansing: An Investigator-blinded, Randomized Trial. Completed NCT00779649 Phase 4
40 Pharmacokinetics of Lopinavir Crushed Versus Whole Tablets in Pediatric Patients Completed NCT00810108 Phase 4 lopinavir/ritonavir (Kaletra®) tablets
41 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
42 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
43 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
44 Imaging the Effect of Experimental Stress on Small and Large Bowel Water During Fructose Absorption Completed NCT01763281 Phase 4 CRH;Placebo
45 Reduction in YEllow Plaque by Aggressive Lipid LOWering Therapy. (YELLOW Trial) Completed NCT01567826 Phase 4 standard of care lipid therapy;Aggressive lipid therapy
46 Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified Phytosterols In Chilean Subjects With Hypercholesterolemia Completed NCT02644109 Phase 4
47 A 5-year Clinical Trial Assessing the Effects of a Surface Sealant on Composite Resin Class I Restorations Completed NCT02899247 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 Varenicline Treatment for Smoking Cessation in Patients With Bipolar Disorder Completed NCT01010204 Phase 4 Varenicline;Placebo
50 Sublingual Administration of a Polyvalent Mechanical Bacterial Lysate in Patients With Moderate, Severe or Very Severe COPD According to GOLD Classification: a Multicenter, Double Blind, Randomized, Controlled, Phase IV Study Completed NCT02417649 Phase 4

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:

41
Lung, Breast, Bone, Brain, Liver, 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. 8 71
28151491 2017
2
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. 8 71
25118029 2015
3
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome. 8 71
25251319 2014
4
Further delineation of the SATB2 phenotype. 8 71
24301056 2014
5
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 8 71
23925499 2013
6
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 8 71
17377962 2007
7
SATB2-Associated Syndrome 71
29023086 2017
8
Large-scale discovery of novel genetic causes of developmental disorders. 71
25533962 2015
9
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 8
24363063 2014
10
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. 8
21343628 2011
11
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. 8
21295280 2011
12
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. 8
20034071 2010
13
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 8
19576302 2009
14
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 8
19668335 2009
15
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 8
16179223 2005
16
Identification of SATB2 as the cleft palate gene on 2q32-q33. 8
12915443 2003
17
A locus for isolated cleft palate, located on human chromosome 2q32. 8
10417281 1999
18
A chromosomal deletion map of human malformations. 8
9758599 1998
19
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 8
2918541 1989
20
[Analysis of SATB2 gene mutation in a child with Glass syndrome]. 38
31302918 2019
21
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation. 38
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. 38
25925190 2015
23
[Computed tomography in the differential diagnosis of disseminated pulmonary tuberculosis and fibrosing alveolitis]. 38
17598461 2007
24
[Role of endothelial dysfunction and coagulation disorders in the development of pulmonary fibrosis in patients with interstitial lung diseases]. 38
15344689 2004

Variations for Glass Syndrome

ClinVar genetic disease variations for Glass Syndrome:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SATB2 NM_015265.4(SATB2): c.1627del (p.Arg543fs) deletion Pathogenic rs1135401803 2:200173596-200173596 2:199308873-199308873
2 SATB2 NM_015265.4(SATB2): c.1592dup (p.Asn531fs) duplication Pathogenic rs1553544158 2:200173631-200173631 2:199308908-199308908
3 SATB2 NM_015265.4(SATB2): c.1375C> T (p.Arg459Ter) single nucleotide variant Pathogenic rs1553547838 2:200193432-200193432 2:199328709-199328709
4 SATB2 NC_000002.12 duplication Pathogenic 2:200228772-200263785 2:199364049-199399062
5 SATB2 NM_001172509.1(SATB2): c.170_346dup duplication Pathogenic 2:200298061-200298237 2:199391823-199446462
6 SATB2 NM_015265.4(SATB2): c.1127_1128GT[2] (p.Ser378fs) short repeat Pathogenic rs875989830 2:200213465-200213466 2:199348742-199348743
7 SATB2 NM_015265.4(SATB2): c.1495A> T (p.Lys499Ter) single nucleotide variant Pathogenic rs878853163 2:200188573-200188573 2:199323850-199323850
8 SATB2 NM_015265.4(SATB2): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic rs886041847 2:200193522-200193522 2:199328799-199328799
9 SATB2 NM_015265.4(SATB2): c.1286G> A (p.Arg429Gln) single nucleotide variant Pathogenic rs886041516 2:200193521-200193521 2:199328798-199328798
10 SATB2 NM_015265.4(SATB2): c.343C> T (p.Gln115Ter) single nucleotide variant Pathogenic 2:200298064-200298064 2:199433341-199433341
11 SATB2 NC_000002.11: g.(?_200213404)_(200298257_?)del deletion Pathogenic 2:200213404-200298257 2:199348681-199433534
12 SATB2 NM_015265.4(SATB2): c.1186G> C (p.Glu396Gln) single nucleotide variant Pathogenic 2:200193621-200193621 2:199328898-199328898
13 SATB2 NM_015265.4(SATB2): c.2074G> T (p.Glu692Ter) single nucleotide variant Pathogenic 2:200137062-200137062 2:199272339-199272339
14 SATB2 NM_015265.4(SATB2): c.2018dup (p.His673fs) duplication Pathogenic 2:200137118-200137118 2:199272395-199272395
15 SATB2 NM_015265.4(SATB2): c.1945dup (p.Ser649fs) duplication Pathogenic 2:200137191-200137191 2:199272468-199272468
16 SATB2 NM_015265.4(SATB2): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic 2:200213426-200213426 2:199348703-199348703
17 SATB2 NM_015265.4(SATB2): c.1142T> G (p.Val381Gly) single nucleotide variant Pathogenic 2:200213455-200213455 2:199348732-199348732
18 SATB2 NM_015265.4(SATB2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic 2:200213849-200213849 2:199349126-199349126
19 SATB2 NM_015265.4(SATB2): c.346+2T> G single nucleotide variant Pathogenic 2:200298059-200298059 2:199433336-199433336
20 SATB2 NM_015265.4(SATB2): c.1543G> A (p.Gly515Ser) single nucleotide variant Pathogenic rs1553544187 2:200173680-200173680 2:199308957-199308957
21 SATB2 NM_015265.4(SATB2): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs137853127 2:200213882-200213882 2:199349159-199349159
22 SATB2 NM_015265.4(SATB2): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs797044874 2:200213750-200213750 2:199349027-199349027
23 SATB2 GRCh37/hg19 2q33.1(chr2: 200213361-200233633) copy number loss Pathogenic 2:200213361-200233633 :0-0
24 SATB2 NM_015265.4(SATB2): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic 2:200245122-200245122 2:199380399-199380399
25 SATB2 NM_015265.4(SATB2): c.1826del (p.Asp609fs) deletion Pathogenic 2:200137310-200137310 2:199272587-199272587
26 SATB2 NM_015265.4(SATB2): c.1165C> T (p.Arg389Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1057521083 2:200213432-200213432 2:199348709-199348709
27 SATB2 NM_015265.4(SATB2): c.1696G> A (p.Glu566Lys) single nucleotide variant Likely pathogenic rs1064795530 2:200173527-200173527 2:199308804-199308804
28 SATB2 NM_015265.4(SATB2): c.1964C> T (p.Pro655Leu) single nucleotide variant Likely pathogenic rs1553538919 2:200137172-200137172 2:199272449-199272449
29 SATB2 NM_015265.4(SATB2): c.1169C> T (p.Thr390Ile) single nucleotide variant Likely pathogenic rs863224917 2:200213428-200213428 2:199348705-199348705
30 SATB2 NM_015265.4(SATB2): c.597+1G> A single nucleotide variant Likely pathogenic 2:200245086-200245086 2:199380363-199380363
31 SATB2 NM_015265.4(SATB2): c.674G> A (p.Trp225Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1553493553 2:200233354-200233354 2:199368631-199368631
32 SATB2 NC_000002.11: g.(?_200173463)_(200320780_?)dup duplication Uncertain significance 2:200173463-200320780 2:199308740-199456057
33 SATB2 NM_015265.4(SATB2): c.1000G> A (p.Ala334Thr) single nucleotide variant Uncertain significance rs754385480 2:200213597-200213597 2:199348874-199348874
34 SATB2 NM_015265.4(SATB2): c.1173+6A> G single nucleotide variant Uncertain significance rs747745210 2:200213418-200213418 2:199348695-199348695
35 SATB2 NM_015265.4(SATB2): c.855A> G (p.Gln285=) single nucleotide variant Uncertain significance rs904363589 2:200213742-200213742 2:199349019-199349019
36 SATB2 NM_015265.4(SATB2): c.1704G> A (p.Met568Ile) single nucleotide variant Uncertain significance 2:200173519-200173519 2:199308796-199308796
37 SATB2 NM_015265.4(SATB2): c.2000G> T (p.Arg667Leu) single nucleotide variant Uncertain significance 2:200137136-200137136 2:199272413-199272413
38 SATB2 NM_015265.4(SATB2): c.1173+4C> A single nucleotide variant Uncertain significance 2:200213420-200213420 2:199348697-199348697
39 SATB2 NM_015265.4(SATB2): c.974G> A (p.Arg325Gln) single nucleotide variant Uncertain significance 2:200213623-200213623 2:199348900-199348900
40 SATB2 NM_015265.4(SATB2): c.732C> G (p.Asp244Glu) single nucleotide variant Uncertain significance 2:200213865-200213865 2:199349142-199349142
41 SATB2 NM_015265.4(SATB2): c.1660G> A (p.Val554Ile) single nucleotide variant Uncertain significance 2:200173563-200173563 2:199308840-199308840
42 SATB2 NM_015265.4(SATB2): c.1173+5A> G single nucleotide variant Uncertain significance 2:200213419-200213419 2:199348696-199348696
43 SATB2 NM_015265.4(SATB2): c.1441A> G (p.Ile481Val) single nucleotide variant Uncertain significance 2:200188627-200188627 2:199323904-199323904
44 SATB2 NM_015265.4(SATB2): c.2196G> T (p.Gln732His) single nucleotide variant Uncertain significance 2:200136940-200136940 2:199272217-199272217
45 SATB2 NM_015265.4(SATB2): c.2109C> T (p.Ser703=) single nucleotide variant Uncertain significance 2:200137027-200137027 2:199272304-199272304
46 SATB2 NM_015265.4(SATB2): c.2116G> A (p.Gly706Ser) single nucleotide variant Uncertain significance rs1553538875 2:200137020-200137020 2:199272297-199272297
47 SATB2 NM_015265.4(SATB2): c.862G> A (p.Ala288Thr) single nucleotide variant Uncertain significance rs142825652 2:200213735-200213735 2:199349012-199349012
48 SATB2 NM_015265.4(SATB2): c.732C> A (p.Asp244Glu) single nucleotide variant Uncertain significance rs766855879 2:200213865-200213865 2:199349142-199349142
49 SATB2 NM_015265.4(SATB2): c.695T> C (p.Ile232Thr) single nucleotide variant Uncertain significance rs773467832 2:200233333-200233333 2:199368610-199368610
50 SATB2 NM_015265.4(SATB2): c.2047G> A (p.Ala683Thr) single nucleotide variant Uncertain significance rs372032415 2:200137089-200137089 2:199272366-199272366

Expression for Glass Syndrome

Search GEO for disease gene expression data for Glass Syndrome.

Pathways for Glass Syndrome

GO Terms for Glass Syndrome

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