GLASS
MCID: GLS018
MIFTS: 57

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 56 12 24 52 25 36
Chromosome 2q32-Q33 Deletion Syndrome 56 12 25 29 13 6 15 71
Satb2-Associated Syndrome 12 24 52 25 58
2q33.1 Microdeletion Syndrome 24 25 58
Sas 52 25 58
2q32-Q33 Microdeletion Syndrome 12 52
2q32q33 Microdeletion Syndrome 12 58
2q32 Deletion Syndrome 24 25
Monosomy 2q32-Q33 12 52
Monosomy 2q32q33 12 58
Del(2)(q32q33) 52 58
Monosomy 2q32 12 58
Del(2)(q32) 52 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 52
Monosomy 2q33.1 58
Syndrome, Glass 39
Satb2 Syndrome 52
Del(2)(q33.1) 58
Glass 56

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:

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

Genetics Home Reference : 25 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. SATB2 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. SATB2 SATB2 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). SATB2 SATB2 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 nabais sa-de vries syndrome, type 1 and nabais sa-de vries syndrome, type 2, and has symptoms including thin, sparse hair An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2). The drugs Naproxen and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and brain, and related phenotypes are global developmental delay and delayed speech and language development

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.

NIH Rare Diseases : 52 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 : 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)

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 1033)
# Related Disease Score Top Affiliating Genes
1 nabais sa-de vries syndrome, type 1 12.5
2 nabais sa-de vries syndrome, type 2 12.5
3 uncombable hair syndrome 1 12.2
4 sinoatrial node disease 11.9
5 sick sinus syndrome 11.8
6 atrioventricular block 11.7
7 pulmonary venoocclusive disease 2, autosomal recessive 11.5
8 pulmonary venoocclusive disease 1, autosomal dominant 11.5
9 chronic atrial and intestinal dysrhythmia 11.4
10 cataract 11.4
11 refractive error 11.4
12 ovalocytosis, southeast asian 11.4
13 amblyopia 11.4
14 presbyopia 11.4
15 esotropia 11.4
16 pica disease 11.3
17 coloboma of macula 11.3
18 keratoconus 11.3
19 pulmonary venoocclusive disease 11.3
20 mercury poisoning 11.3
21 cardiac arrhythmia, ankyrin-b-related 11.3
22 subvalvular aortic stenosis 11.3
23 multifocal atrial tachycardia 11.3
24 brittle bone disorder 11.3
25 albinism, oculocutaneous, type ib 11.2
26 brittle cornea syndrome 2 11.2
27 corneal endothelial dystrophy type 2 11.2
28 vulto-van silfhout-de vries syndrome 11.1
29 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures 11.1
30 third-degree atrioventricular block 11.1
31 adie pupil 11.0
32 macular dystrophy, retinal, 1, north carolina type 11.0
33 microcoria, congenital 11.0
34 capillary malformations, congenital 11.0
35 bietti crystalline corneoretinal dystrophy 11.0
36 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.0
37 corneal dystrophy, endothelial, x-linked 11.0
38 blue cone monochromacy 11.0
39 hyperferritinemia with or without cataract 11.0
40 supranuclear palsy, progressive, 1 11.0
41 corneal dystrophy, avellino type 11.0
42 west nile virus 11.0
43 porphyria, acute hepatic 11.0
44 uncombable hair syndrome 2 11.0
45 uncombable hair syndrome 3 11.0
46 oculocutaneous albinism 11.0
47 baritosis 11.0
48 abducens nerve disease 11.0
49 ocular motility disease 11.0
50 glassy cell variant cervical adenosquamous carcinoma 11.0

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 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
6 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
7 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
8 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
11 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
12 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
13 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
14 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
15 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
16 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
17 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
18 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
19 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
20 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
21 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
24 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
25 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
26 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
27 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
28 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
29 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
30 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
31 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
32 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
33 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
34 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
35 convex nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000444
36 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
37 toe clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001863
38 sparse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0008070
39 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
40 oligodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000677
41 incomprehensible speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002546
42 conspicuously happy disposition 58 31 occasional (7.5%) Occasional (29-5%) HP:0100024
43 intellectual disability 31 HP:0001249
44 inguinal hernia 31 HP:0000023
45 smooth philtrum 31 HP:0000319
46 frontal bossing 31 HP:0002007
47 growth delay 58 Frequent (79-30%)
48 malar flattening 31 HP:0000272
49 bulbous nose 31 HP:0000414
50 midface retrusion 31 HP:0011800

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia

Head And Neck Face:
smooth philtrum
frontal bossing
micrognathia
long face
high forehead
more
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

Head And Neck Head:
microcephaly

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

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 776)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Racepinephrine Approved Phase 4 329-65-7 838
4
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
5
Menthol Approved Phase 4 2216-51-5 16666
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
8
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
9
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
10
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
11
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
12
Ranibizumab Approved Phase 4 347396-82-1 459903
13
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
14
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
15
Bisacodyl Approved Phase 4 603-50-9
16
Calcium polycarbophil Approved Phase 4 126040-58-2
17
Hexetidine Approved, Investigational Phase 4 141-94-6
18
Sodium sulfate Approved, Vet_approved Phase 4 7757-82-6
19
Magnesium oxide Approved Phase 4 1309-48-4 14792
20
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
21
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
22
Polyestradiol phosphate Approved Phase 4 28014-46-2
23
Ceftibuten Approved, Investigational Phase 4 97519-39-6 5282242 5282241
24
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
25
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
26
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
27
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
28
Phentermine Approved, Illicit Phase 4 122-09-8 4771
29
Topiramate Approved Phase 4 97240-79-4 5284627
30
Cefixime Approved, Investigational Phase 4 79350-37-1 5362065 54362
31
Simvastatin Approved Phase 4 79902-63-9 54454
32
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
33
Lumefantrine Approved Phase 4 82186-77-4 6437380
34
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
35
Atorvastatin Approved Phase 4 134523-00-5 60823
36
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
37
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
38
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
39
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
40
Drospirenone Approved Phase 4 67392-87-4 68873
41
Tibolone Approved, Investigational Phase 4 5630-53-5
42
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
43
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
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
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
48
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
49
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
50
Dimethyl sulfoxide Approved, Vet_approved Phase 4 67-68-5 679

Interventional clinical trials:

(show top 50) (show all 1352)
# 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 Efficacy of Calcium Silicate Pulp-capping; a Randomized Controlled Clinical Trial Unknown status NCT02201641 Phase 4
3 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
4 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
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 COLITIS: Clostridial Infection and Oral Lavage -Improving Treatment Before Illness Becomes Severe Unknown status NCT01630096 Phase 4 Nu-Lytely
8 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
9 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
10 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
11 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
12 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
13 Comparison of Prilosec OTC® Versus Prevacid ® for Gastric Acid Suppression Completed NCT00903448 Phase 4 Prilosec OTC (omeprazole-magnesium);Prevacid
14 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 )
15 Fuji Type VII Sealants Versus Resin Based Sealants. A Clinical Trial Completed NCT02795728 Phase 4
16 Bioactive Glass Granules as Bone Graft Substitute in Filling Material of Bone Defects Completed NCT01304121 Phase 4
17 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
18 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
19 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
20 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
21 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
22 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
23 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
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 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
26 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
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 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
33 The Change of Bone Markers After Low Dose Alendronate in Postmenopausal Women Completed NCT00460057 Phase 4 Alendronate
34 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
35 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
36 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
37 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
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 Efficacy and Safety of Intra-Articular Injections of Durolane® in the Treatment of Osteoarthritis in the Knee Completed NCT00731289 Phase 4 hyaluronic acid;triamcinolone
42 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
43 Effect of Exenatide in Obese Patients With Accelerated Gastric Emptying Completed NCT02160990 Phase 4 Exenatide;Placebo
44 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
45 Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified Phytosterols In Chilean Subjects With Hypercholesterolemia Completed NCT02644109 Phase 4
46 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
47 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
48 Imaging the Effect of Experimental Stress on Small and Large Bowel Water During Fructose Absorption Completed NCT01763281 Phase 4 CRH;Placebo
49 Reduction in YEllow Plaque by Aggressive Lipid LOWering Therapy. (YELLOW Trial) Completed NCT01567826 Phase 4 standard of care lipid therapy;Aggressive lipid therapy
50 Maximal Stimulation and Delayed Fertilization for Diminished Ovarian Reserve: a Randomized Pilot Study Completed NCT01921166 Phase 4 clomiphene plus gonadotropins;Leuprolide flare

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, Brain, Breast, Liver, Skin, Testes

Publications for Glass Syndrome

Articles related to Glass Syndrome:

(show all 49)
# Title Authors PMID Year
1
Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 56 6 24
28151491 2017
2
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. 24 6 56
25118029 2015
3
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome. 24 56 6
25251319 2014
4
Further delineation of the SATB2 phenotype. 56 24 6
24301056 2014
5
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 6 56 24
23925499 2013
6
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 56 24 6
17377962 2007
7
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 24 56
24363063 2014
8
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. 56 24
21343628 2011
9
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. 56 24
20034071 2010
10
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 56 24
19576302 2009
11
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 24 56
19668335 2009
12
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 56 24
16179223 2005
13
Identification of SATB2 as the cleft palate gene on 2q32-q33. 56 24
12915443 2003
14
A locus for isolated cleft palate, located on human chromosome 2q32. 56 24
10417281 1999
15
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 24 56
2918541 1989
16
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. 24 52
27774744 2017
17
SATB2-associated syndrome presenting with Rett-like phenotypes. 52 24
26596517 2016
18
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 52 24
25885067 2015
19
SATB2-Associated Syndrome 6
29023086 2017
20
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
21
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. 56
21295280 2011
22
A chromosomal deletion map of human malformations. 56
9758599 1998
23
Bone health and SATB2-associated syndrome. 24
28787087 2018
24
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 24
28139846 2017
25
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 24
28211976 2017
26
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. 24
27409069 2016
27
Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1. 24
26811410 2016
28
First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome. 24
25729738 2015
29
The clinical significance of small copy number variants in neurodevelopmental disorders. 24
25106414 2014
30
Genome sequencing identifies major causes of severe intellectual disability. 24
24896178 2014
31
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. 24
24884844 2014
32
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism. 24
23918240 2013
33
Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. 24
23840981 2013
34
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 24
23020937 2012
35
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. 24
22521361 2012
36
A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages. 24
21089028 2010
37
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. 24
19284984 2009
38
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 24
19170718 2009
39
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. 24
18371933 2008
40
SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons. 24
18333962 2008
41
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 24
16960803 2006
42
SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 24
16751105 2006
43
SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. 24
14701874 2003
44
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
45
[Analysis of SATB2 gene mutation in a child with Glass syndrome]. 61
31302918 2019
46
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation. 61
27915340 2016
47
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
48
[Computed tomography in the differential diagnosis of disseminated pulmonary tuberculosis and fibrosing alveolitis]. 61
17598461 2007
49
[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 132) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SATB2 NM_001172509.2(SATB2):c.1627del (p.Arg543fs)deletion Pathogenic 431132 rs1135401803 2:200173596-200173596 2:199308873-199308873
2 SATB2 NM_001172509.2(SATB2):c.1592dup (p.Asn531fs)duplication Pathogenic 469544 rs1553544158 2:200173630-200173631 2:199308907-199308908
3 SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)SNV Pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709
4 SATB2 NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser)SNV Pathogenic 545530 rs1553544187 2:200173680-200173680 2:199308957-199308957
5 SATB2 NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)SNV Pathogenic 573402 rs1559052032 2:200298064-200298064 2:199433341-199433341
6 SATB2 NC_000002.12:g.(?_199348681)_(199433534_?)deldeletion Pathogenic 584397 2:200213404-200298257 2:199348681-199433534
7 SATB2 NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)SNV Pathogenic 584426 rs1559135904 2:200137062-200137062 2:199272339-199272339
8 SATB2 NM_001172509.2(SATB2):c.2018dup (p.His673fs)duplication Pathogenic 584425 rs1559136015 2:200137117-200137118 2:199272394-199272395
9 SATB2 NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)duplication Pathogenic 584424 rs1559136052 2:200137190-200137191 2:199272467-199272468
10 SATB2 NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)SNV Pathogenic 584423 rs1559164403 2:200193621-200193621 2:199328898-199328898
11 SATB2 NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)SNV Pathogenic 584422 rs1559174813 2:200213426-200213426 2:199348703-199348703
12 SATB2 NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)SNV Pathogenic 584421 rs1559174854 2:200213455-200213455 2:199348732-199348732
13 SATB2 NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)SNV Pathogenic 584420 rs1558995207 2:200213849-200213849 2:199349126-199349126
14 SATB2 NM_001172509.2(SATB2):c.346+2T>GSNV Pathogenic 584419 rs1559052017 2:200298059-200298059 2:199433336-199433336
15 SATB2 GRCh37/hg19 2q33.1(chr2:200213361-200233633)copy number loss Pathogenic 625775 2:200213361-200233633
16 SATB2 NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter)SNV Pathogenic 656899 2:200245122-200245122 2:199380399-199380399
17 SATB2 NM_001172509.2(SATB2):c.1610del (p.Asn537fs)deletion Pathogenic 691258 2:200173613-200173613 2:199308890-199308890
18 SATB2 NM_001172509.2(SATB2):c.1826del (p.Asp609fs)deletion Pathogenic 666260 2:200137310-200137310 2:199272587-199272587
19 SATB2 NM_001172509.2(SATB2):c.474-2A>GSNV Pathogenic 801850 2:200245212-200245212 2:199380489-199380489
20 SATB2 NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs)deletion Pathogenic 807482 2:200213491-200213494 2:199348768-199348771
21 SATB2 NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs)insertion Pathogenic 807483 2:200245130-200245131 2:199380407-199380408
22 SATB2 NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter)SNV Pathogenic 807484 2:200298182-200298182 2:199433459-199433459
23 SATB2 NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs)deletion Pathogenic 840533 2:200137115-200137134 2:199272392-199272411
24 SATB2 NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dupduplication Pathogenic 217315 2:200228772-200263785 2:199364049-199399062
25 SATB2 NM_001172509.1(SATB2):c.170_346dupduplication Pathogenic 218098 2:200298061-200298237 2:199391823-199446462
26 SATB2 NM_001172509.2(SATB2):c.1127_1128GT[2] (p.Ser378fs)short repeat Pathogenic 224131 rs875989830 2:200213465-200213466 2:199348742-199348743
27 SATB2 NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter)SNV Pathogenic 235893 rs878853163 2:200188573-200188573 2:199323850-199323850
28 SATB2 NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)SNV Pathogenic 280687 rs886041847 2:200193522-200193522 2:199328799-199328799
29 SATB2 NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)SNV Pathogenic 280282 rs886041516 2:200193521-200193521 2:199328798-199328798
30 SATB2 NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)SNV Pathogenic 373069 rs1057518190 2:200193611-200193611 2:199328888-199328888
31 SATB2 NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly)SNV Pathogenic 848669 2:200193620-200193620 2:199328897-199328897
32 SATB2 NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)SNV Pathogenic 2519 rs137853127 2:200213882-200213882 2:199349159-199349159
33 SATB2 NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)SNV Pathogenic 208673 rs797044874 2:200213750-200213750 2:199349027-199349027
34 SATB2 NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)SNV Pathogenic/Likely pathogenic 381575 rs1057521083 2:200213432-200213432 2:199348709-199348709
35 SATB2 NM_001172509.2(SATB2):c.597+1G>ASNV Pathogenic/Likely pathogenic 620021 rs1559016679 2:200245086-200245086 2:199380363-199380363
36 SATB2 NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)SNV Likely pathogenic 801849 2:200213672-200213672 2:199348949-199348949
37 SATB2 NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)deletion Likely pathogenic 666577 2:200193586-200193589 2:199328863-199328866
38 SATB2 NM_001172509.2(SATB2):c.75del (p.Pro26fs)deletion Likely pathogenic 830000 2:200320686-200320686 2:199455963-199455963
39 SATB2 NC_000002.12:g.(?_199380344)_(199433534_?)dupduplication Likely pathogenic 832126 2:200245067-200298257
40 SATB2 NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile)SNV Likely pathogenic 216996 rs863224917 2:200213428-200213428 2:199348705-199348705
41 SATB2 NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)SNV Likely pathogenic 422062 rs1064795530 2:200173527-200173527 2:199308804-199308804
42 SATB2 NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)SNV Likely pathogenic 436636 rs1553538919 2:200137172-200137172 2:199272449-199272449
43 SATB2 NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter)SNV Conflicting interpretations of pathogenicity 437864 rs1553493553 2:200233354-200233354 2:199368631-199368631
44 SATB2 NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)SNV Conflicting interpretations of pathogenicity 589354 rs1042085577 2:200173519-200173519 2:199308796-199308796
45 SATB2 NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr)SNV Uncertain significance 537275 rs773467832 2:200233333-200233333 2:199368610-199368610
46 SATB2 NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser)SNV Uncertain significance 661483 2:200298196-200298196 2:199433473-199433473
47 SATB2 NM_001172509.2(SATB2):c.597+4A>GSNV Uncertain significance 657251 2:200245083-200245083 2:199380360-199380360
48 SATB2 NM_001172509.2(SATB2):c.2189T>C (p.Ile730Thr)SNV Uncertain significance 660219 2:200136947-200136947 2:199272224-199272224
49 SATB2 NM_001172509.2(SATB2):c.2185G>A (p.Glu729Lys)SNV Uncertain significance 658810 2:200136951-200136951 2:199272228-199272228
50 SATB2 NM_001172509.2(SATB2):c.2183C>G (p.Ala728Gly)SNV Uncertain significance 654229 2:200136953-200136953 2:199272230-199272230

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 chromatin remodeling GO:0006338 8.8 SRCAP SATB2 SATB1

Sources for Glass Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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