GLASS
MCID: GLS018
MIFTS: 34

Glass Syndrome (GLASS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 58 12 38
Chromosome 2q32-Q33 Deletion Syndrome 58 12 30 13 6 15 74
2q32q33 Microdeletion Syndrome 12 60
Monosomy 2q32q33 12 60
Monosomy 2q32 12 60
2q32-Q33 Microdeletion Syndrome 12
Monosomy 2q32-Q33 12
Syndrome, Glass 41
Del(2)(q32q33) 60
Del(2)(q32) 60
Glass 58

Characteristics:

Orphanet epidemiological data:

60
2q32q33 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable manifestations


HPO:

33
glass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Glass Syndrome

OMIM : 58 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)

MalaCards based summary : Glass Syndrome, also known as chromosome 2q32-q33 deletion syndrome, is related to cleft palate, isolated and glass-chapman-hockley syndrome, and has symptoms including thin, sparse hair An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2). Affiliated tissues include skin, and related phenotypes are global developmental delay and delayed speech and language development

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 445)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 28.9 HMOX2 SATB2
2 glass-chapman-hockley syndrome 12.3
3 uncombable hair syndrome 1 12.0
4 pulmonary venoocclusive disease 1, autosomal dominant 11.4
5 satb2-associated syndrome 11.3
6 amblyopia 11.2
7 cataract 11.2
8 presbyopia 11.2
9 esotropia 11.2
10 refractive error 11.2
11 pica disease 11.2
12 brittle bone disorder 11.1
13 pulmonary venoocclusive disease 2, autosomal recessive 11.0
14 albinism, oculocutaneous, type ib 11.0
15 brittle cornea syndrome 2 11.0
16 corneal endothelial dystrophy type 2 11.0
17 adie pupil 10.9
18 macular dystrophy, retinal, 1, north carolina type 10.9
19 microcoria, congenital 10.9
20 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
21 blue cone monochromacy 10.9
22 hyperferritinemia with or without cataract 10.9
23 supranuclear palsy, progressive, 1 10.9
24 corneal dystrophy, avellino type 10.9
25 west nile virus 10.9
26 porphyria, acute hepatic 10.9
27 uncombable hair syndrome 2 10.9
28 uncombable hair syndrome 3 10.9
29 keratoconus 10.9
30 oculocutaneous albinism 10.9
31 baritosis 10.9
32 abducens nerve disease 10.9
33 ocular motility disease 10.9
34 glassy cell variant cervical adenosquamous carcinoma 10.9
35 ocular albinism, x-linked 10.9
36 duane syndrome type 1 10.9
37 glassy cell carcinoma of the cervix 10.9
38 mercury poisoning 10.9
39 neonatal adrenoleukodystrophy 10.9
40 trichostasis spinulosa 10.9
41 wagner syndrome 10.9
42 neuropathy - hereditary 10.9
43 adenocarcinoma 10.5
44 lung cancer susceptibility 3 10.4
45 spondyloenchondrodysplasia 10.3
46 horns in sheep 10.3
47 osteomyelitis 10.2
48 aging 10.2
49 lymphoma 10.2
50 nodular lymphocyte predominant hodgkin lymphoma 10.1

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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Abdomen External Features:
inguinal hernia

Growth Height:
short stature

Skin Nails Hair Skin:
thin skin

Skeletal Hands:
arachnodactyly
camptodactyly

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

Head And Neck Eyes:
downslanting palpebral fissures

Skin Nails Hair Hair:
thin, sparse hair

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

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

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
happy demeanor
aggression

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

Skin Nails Hair Nails:
dysplastic nails

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

Search Clinical Trials , NIH Clinical Center for Glass Syndrome

Genetic Tests for Glass Syndrome

Genetic tests related to Glass Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q32-Q33 Deletion Syndrome 30 SATB2

Anatomical Context for Glass Syndrome

MalaCards organs/tissues related to Glass Syndrome:

42
Skin

Publications for Glass Syndrome

Variations for Glass Syndrome

ClinVar genetic disease variations for Glass Syndrome:

6 (show top 50) (show all 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 SATB2 NM_015265.3(SATB2): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs797044874 GRCh37 Chromosome 2, 200213750: 200213750
2 SATB2 NM_015265.3(SATB2): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs797044874 GRCh38 Chromosome 2, 199349027: 199349027
3 SATB2 NM_015265.3(SATB2): c.1169C> T (p.Thr390Ile) single nucleotide variant Likely pathogenic rs863224917 GRCh37 Chromosome 2, 200213428: 200213428
4 SATB2 NM_015265.3(SATB2): c.1169C> T (p.Thr390Ile) single nucleotide variant Likely pathogenic rs863224917 GRCh38 Chromosome 2, 199348705: 199348705
5 SATB2 NG_016976.1: g.(77205_77207)_(112216_112218)dup duplication Pathogenic GRCh38 Chromosome 2, 199364049: 199399062
6 SATB2 NG_016976.1: g.(77205_77207)_(112216_112218)dup duplication Pathogenic GRCh37 Chromosome 2, 200228772: 200263785
7 SATB2 NM_001172509.1(SATB2): c.170_346dup177 duplication Pathogenic GRCh38 Chromosome 2, 199391823: 199446462
8 SATB2 NM_001172509.1(SATB2): c.170_346dup177 duplication Pathogenic GRCh37 Chromosome 2, 200298061: 200298237
9 SATB2 NM_015265.3(SATB2): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs137853127 GRCh37 Chromosome 2, 200213882: 200213882
10 SATB2 NM_015265.3(SATB2): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs137853127 GRCh38 Chromosome 2, 199349159: 199349159
11 SATB2 NM_015265.3(SATB2): c.1131_1132delGT (p.Ser378Profs) deletion Pathogenic rs875989830 GRCh38 Chromosome 2, 199348742: 199348743
12 SATB2 NM_015265.3(SATB2): c.1131_1132delGT (p.Ser378Profs) deletion Pathogenic rs875989830 GRCh37 Chromosome 2, 200213465: 200213466
13 SATB2 NM_015265.3(SATB2): c.1495A> T (p.Lys499Ter) single nucleotide variant Pathogenic rs878853163 GRCh37 Chromosome 2, 200188573: 200188573
14 SATB2 NM_015265.3(SATB2): c.1495A> T (p.Lys499Ter) single nucleotide variant Pathogenic rs878853163 GRCh38 Chromosome 2, 199323850: 199323850
15 SATB2 NM_015265.3(SATB2): c.1286G> A (p.Arg429Gln) single nucleotide variant Pathogenic rs886041516 GRCh38 Chromosome 2, 199328798: 199328798
16 SATB2 NM_015265.3(SATB2): c.1286G> A (p.Arg429Gln) single nucleotide variant Pathogenic rs886041516 GRCh37 Chromosome 2, 200193521: 200193521
17 SATB2 NM_015265.3(SATB2): c.1165C> T (p.Arg389Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1057521083 GRCh38 Chromosome 2, 199348709: 199348709
18 SATB2 NM_015265.3(SATB2): c.1165C> T (p.Arg389Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1057521083 GRCh37 Chromosome 2, 200213432: 200213432
19 SATB2 NM_015265.3(SATB2): c.1696G> A (p.Glu566Lys) single nucleotide variant Likely pathogenic rs1064795530 GRCh37 Chromosome 2, 200173527: 200173527
20 SATB2 NM_015265.3(SATB2): c.1696G> A (p.Glu566Lys) single nucleotide variant Likely pathogenic rs1064795530 GRCh38 Chromosome 2, 199308804: 199308804
21 SATB2 NM_001172509.1(SATB2): c.1627del (p.Arg543Alafs) deletion Pathogenic rs1135401803 GRCh37 Chromosome 2, 200173596: 200173596
22 SATB2 NM_001172509.1(SATB2): c.1627del (p.Arg543Alafs) deletion Pathogenic rs1135401803 GRCh38 Chromosome 2, 199308873: 199308873
23 SATB2 NM_015265.3(SATB2): c.1964C> T (p.Pro655Leu) single nucleotide variant Likely pathogenic rs1553538919 GRCh37 Chromosome 2, 200137172: 200137172
24 SATB2 NM_015265.3(SATB2): c.1964C> T (p.Pro655Leu) single nucleotide variant Likely pathogenic rs1553538919 GRCh38 Chromosome 2, 199272449: 199272449
25 SATB2 NM_015265.3(SATB2): c.674G> A (p.Trp225Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1553493553 GRCh38 Chromosome 2, 199368631: 199368631
26 SATB2 NM_015265.3(SATB2): c.674G> A (p.Trp225Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1553493553 GRCh37 Chromosome 2, 200233354: 200233354
27 SATB2 NC_000002.12: g.(?_199308740)_(199456057_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 199308740: 199456057
28 SATB2 NC_000002.12: g.(?_199308740)_(199456057_?)dup duplication Uncertain significance GRCh37 Chromosome 2, 200173463: 200320780
29 SATB2 NM_015265.3(SATB2): c.2176G> A (p.Ala726Thr) single nucleotide variant Benign/Likely benign rs551624897 GRCh38 Chromosome 2, 199272237: 199272237
30 SATB2 NM_015265.3(SATB2): c.2176G> A (p.Ala726Thr) single nucleotide variant Benign/Likely benign rs551624897 GRCh37 Chromosome 2, 200136960: 200136960
31 SATB2 NM_015265.3(SATB2): c.2103C> T (p.Asn701=) single nucleotide variant Likely benign rs529621505 GRCh38 Chromosome 2, 199272310: 199272310
32 SATB2 NM_015265.3(SATB2): c.2103C> T (p.Asn701=) single nucleotide variant Likely benign rs529621505 GRCh37 Chromosome 2, 200137033: 200137033
33 SATB2 NM_015265.3(SATB2): c.2055C> T (p.Asp685=) single nucleotide variant Likely benign rs747832215 GRCh38 Chromosome 2, 199272358: 199272358
34 SATB2 NM_015265.3(SATB2): c.2055C> T (p.Asp685=) single nucleotide variant Likely benign rs747832215 GRCh37 Chromosome 2, 200137081: 200137081
35 SATB2 NM_015265.3(SATB2): c.1851T> C (p.Ser617=) single nucleotide variant Likely benign rs188200171 GRCh38 Chromosome 2, 199272562: 199272562
36 SATB2 NM_015265.3(SATB2): c.1851T> C (p.Ser617=) single nucleotide variant Likely benign rs188200171 GRCh37 Chromosome 2, 200137285: 200137285
37 SATB2 NM_015265.3(SATB2): c.1818G> T (p.Pro606=) single nucleotide variant Benign/Likely benign rs141436870 GRCh38 Chromosome 2, 199272595: 199272595
38 SATB2 NM_015265.3(SATB2): c.1818G> T (p.Pro606=) single nucleotide variant Benign/Likely benign rs141436870 GRCh37 Chromosome 2, 200137318: 200137318
39 SATB2 NM_015265.3(SATB2): c.1592dup (p.Asn531Lysfs) duplication Pathogenic rs1553544158 GRCh37 Chromosome 2, 200173631: 200173631
40 SATB2 NM_015265.3(SATB2): c.1592dup (p.Asn531Lysfs) duplication Pathogenic rs1553544158 GRCh38 Chromosome 2, 199308908: 199308908
41 SATB2 NM_015265.3(SATB2): c.1542+9T> C single nucleotide variant Likely benign rs1306705746 GRCh37 Chromosome 2, 200188517: 200188517
42 SATB2 NM_015265.3(SATB2): c.1542+9T> C single nucleotide variant Likely benign rs1306705746 GRCh38 Chromosome 2, 199323794: 199323794
43 SATB2 NM_015265.3(SATB2): c.1174-6A> T single nucleotide variant Likely benign rs368537092 GRCh38 Chromosome 2, 199328916: 199328916
44 SATB2 NM_015265.3(SATB2): c.1174-6A> T single nucleotide variant Likely benign rs368537092 GRCh37 Chromosome 2, 200193639: 200193639
45 SATB2 NM_015265.3(SATB2): c.598-4dup duplication Benign rs199978702 GRCh38 Chromosome 2, 199368711: 199368711
46 SATB2 NM_015265.3(SATB2): c.598-4dup duplication Benign rs199978702 GRCh37 Chromosome 2, 200233434: 200233434
47 SATB2 NM_015265.3(SATB2): c.501G> A (p.Ala167=) single nucleotide variant Likely benign rs761351033 GRCh37 Chromosome 2, 200245183: 200245183
48 SATB2 NM_015265.3(SATB2): c.501G> A (p.Ala167=) single nucleotide variant Likely benign rs761351033 GRCh38 Chromosome 2, 199380460: 199380460
49 SATB2 NM_015265.3(SATB2): c.357G> A (p.Lys119=) single nucleotide variant Likely benign rs1185687010 GRCh38 Chromosome 2, 199381810: 199381810
50 SATB2 NM_015265.3(SATB2): c.357G> A (p.Lys119=) single nucleotide variant Likely benign rs1185687010 GRCh37 Chromosome 2, 200246533: 200246533

Expression for Glass Syndrome

Search GEO for disease gene expression data for Glass Syndrome.

Pathways for Glass Syndrome

GO Terms for Glass Syndrome

Sources for Glass Syndrome

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