MCID: GLS018
MIFTS: 29

Glass Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 57 12 40
Chromosome 2q32-Q33 Deletion Syndrome 57 12 29 13 6 15 73
2q32-Q33 Microdeletion Syndrome 12 59
2q32q33 Microdeletion Syndrome 12 59
Monosomy 2q32-Q33 12 59
Monosomy 2q32q33 12 59
Monosomy 2q32 12 59
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:



Summaries for Glass Syndrome

OMIM : 57 Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014). (612313)

MalaCards based summary : Glass Syndrome, also known as chromosome 2q32-q33 deletion syndrome, is related to glass-chapman-hockley syndrome and uncombable hair syndrome 1, 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 low-set ears and high palate

Related Diseases for Glass Syndrome

Diseases related to Glass Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glass-chapman-hockley syndrome 12.1
2 uncombable hair syndrome 1 11.8
3 pulmonary venoocclusive disease 1, autosomal dominant 11.2
4 satb2-associated syndrome 11.1
5 cavernous sinus thrombosis 9.6 SATB2 SERPINC1
6 cleft palate, isolated 9.5 HMOX2 SATB2

Graphical network of the top 20 diseases related to Glass Syndrome:



Diseases related to Glass Syndrome

Symptoms & Phenotypes for Glass Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glass Syndrome:

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

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 29 SATB2

Anatomical Context for Glass Syndrome

MalaCards organs/tissues related to Glass Syndrome:

41
Skin

Publications for Glass Syndrome

Variations for Glass Syndrome

ClinVar genetic disease variations for Glass Syndrome:

6
(show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 SATB2 NM_015265.3(SATB2): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs137853127 GRCh37 Chromosome 2, 200213882: 200213882
2 SATB2 NM_015265.3(SATB2): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs137853127 GRCh38 Chromosome 2, 199349159: 199349159
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.1131_1132delGT (p.Ser378Profs) deletion Pathogenic rs875989830 GRCh37 Chromosome 2, 200213465: 200213466
10 SATB2 NM_015265.3(SATB2): c.1131_1132delGT (p.Ser378Profs) deletion Pathogenic rs875989830 GRCh38 Chromosome 2, 199348742: 199348743
11 SATB2 NM_015265.3(SATB2): c.1495A> T (p.Lys499Ter) single nucleotide variant Pathogenic rs878853163 GRCh37 Chromosome 2, 200188573: 200188573
12 SATB2 NM_015265.3(SATB2): c.1495A> T (p.Lys499Ter) single nucleotide variant Pathogenic rs878853163 GRCh38 Chromosome 2, 199323850: 199323850
13 SATB2 NM_015265.3(SATB2): c.1627delC (p.Arg543Alafs) deletion Pathogenic rs1135401803 GRCh37 Chromosome 2, 200173596: 200173596
14 SATB2 NM_015265.3(SATB2): c.1627delC (p.Arg543Alafs) deletion Pathogenic rs1135401803 GRCh38 Chromosome 2, 199308873: 199308873
15 SATB2 NM_015265.3(SATB2): c.1964C> T (p.Pro655Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 199272449: 199272449
16 SATB2 NM_015265.3(SATB2): c.1964C> T (p.Pro655Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 200137172: 200137172
17 SATB2 NM_001172509.1(SATB2): c.674G> A (p.Trp225Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 199368631: 199368631
18 SATB2 NM_001172509.1(SATB2): c.674G> A (p.Trp225Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 200233354: 200233354
19 SATB2 NC_000002.12: g.(?_199308740)_(199456057_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 199308740: 199456057
20 SATB2 NC_000002.12: g.(?_199308740)_(199456057_?)dup duplication Uncertain significance GRCh37 Chromosome 2, 200173463: 200320780
21 SATB2 NM_015265.3(SATB2): c.2176G> A (p.Ala726Thr) single nucleotide variant Benign rs551624897 GRCh38 Chromosome 2, 199272237: 199272237
22 SATB2 NM_015265.3(SATB2): c.2176G> A (p.Ala726Thr) single nucleotide variant Benign rs551624897 GRCh37 Chromosome 2, 200136960: 200136960
23 SATB2 NM_015265.3(SATB2): c.2103C> T (p.Asn701=) single nucleotide variant Likely benign rs529621505 GRCh38 Chromosome 2, 199272310: 199272310
24 SATB2 NM_015265.3(SATB2): c.2103C> T (p.Asn701=) single nucleotide variant Likely benign rs529621505 GRCh37 Chromosome 2, 200137033: 200137033
25 SATB2 NM_015265.3(SATB2): c.2055C> T (p.Asp685=) single nucleotide variant Likely benign rs747832215 GRCh38 Chromosome 2, 199272358: 199272358
26 SATB2 NM_015265.3(SATB2): c.2055C> T (p.Asp685=) single nucleotide variant Likely benign rs747832215 GRCh37 Chromosome 2, 200137081: 200137081
27 SATB2 NM_015265.3(SATB2): c.1851T> C (p.Ser617=) single nucleotide variant Likely benign rs188200171 GRCh38 Chromosome 2, 199272562: 199272562
28 SATB2 NM_015265.3(SATB2): c.1851T> C (p.Ser617=) single nucleotide variant Likely benign rs188200171 GRCh37 Chromosome 2, 200137285: 200137285
29 SATB2 NM_015265.3(SATB2): c.1818G> T (p.Pro606=) single nucleotide variant Benign rs141436870 GRCh38 Chromosome 2, 199272595: 199272595
30 SATB2 NM_015265.3(SATB2): c.1818G> T (p.Pro606=) single nucleotide variant Benign rs141436870 GRCh37 Chromosome 2, 200137318: 200137318
31 SATB2 NM_015265.3(SATB2): c.1592dup (p.Asn531Lysfs) duplication Pathogenic GRCh38 Chromosome 2, 199308908: 199308908
32 SATB2 NM_015265.3(SATB2): c.1592dup (p.Asn531Lysfs) duplication Pathogenic GRCh37 Chromosome 2, 200173631: 200173631
33 SATB2 NM_015265.3(SATB2): c.1542+9T> C single nucleotide variant Likely benign GRCh38 Chromosome 2, 199323794: 199323794
34 SATB2 NM_015265.3(SATB2): c.1542+9T> C single nucleotide variant Likely benign GRCh37 Chromosome 2, 200188517: 200188517
35 SATB2 NM_015265.3(SATB2): c.1174-6A> T single nucleotide variant Likely benign rs368537092 GRCh38 Chromosome 2, 199328916: 199328916
36 SATB2 NM_015265.3(SATB2): c.1174-6A> T single nucleotide variant Likely benign rs368537092 GRCh37 Chromosome 2, 200193639: 200193639
37 SATB2 NM_015265.3(SATB2): c.598-4dup duplication Benign GRCh38 Chromosome 2, 199368711: 199368711
38 SATB2 NM_015265.3(SATB2): c.598-4dup duplication Benign GRCh37 Chromosome 2, 200233434: 200233434
39 SATB2 NM_015265.3(SATB2): c.501G> A (p.Ala167=) single nucleotide variant Likely benign rs761351033 GRCh37 Chromosome 2, 200245183: 200245183
40 SATB2 NM_015265.3(SATB2): c.501G> A (p.Ala167=) single nucleotide variant Likely benign rs761351033 GRCh38 Chromosome 2, 199380460: 199380460
41 SATB2 NM_015265.3(SATB2): c.357G> A (p.Lys119=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 199381810: 199381810
42 SATB2 NM_015265.3(SATB2): c.357G> A (p.Lys119=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 200246533: 200246533
43 SATB2 NM_015265.3(SATB2): c.210C> T (p.Asp70=) single nucleotide variant Benign rs34311963 GRCh38 Chromosome 2, 199433474: 199433474
44 SATB2 NM_015265.3(SATB2): c.210C> T (p.Asp70=) single nucleotide variant Benign rs34311963 GRCh37 Chromosome 2, 200298197: 200298197
45 SATB2 NM_015265.3(SATB2): c.1257G> A (p.Gln419=) single nucleotide variant Likely benign rs367947535 GRCh38 Chromosome 2, 199328827: 199328827
46 SATB2 NM_015265.3(SATB2): c.1257G> A (p.Gln419=) single nucleotide variant Likely benign rs367947535 GRCh37 Chromosome 2, 200193550: 200193550
47 SATB2 NM_015265.3(SATB2): c.2121C> T (p.Ser707=) single nucleotide variant Benign rs141424911 GRCh37 Chromosome 2, 200137015: 200137015
48 SATB2 NM_015265.3(SATB2): c.2121C> T (p.Ser707=) single nucleotide variant Benign rs141424911 GRCh38 Chromosome 2, 199272292: 199272292
49 SATB2 NM_015265.3(SATB2): c.825A> G (p.Gln275=) single nucleotide variant Likely benign rs995750176 GRCh37 Chromosome 2, 200213772: 200213772
50 SATB2 NM_015265.3(SATB2): c.825A> G (p.Gln275=) single nucleotide variant Likely benign rs995750176 GRCh38 Chromosome 2, 199349049: 199349049

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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