GAND
MCID: GND017
MIFTS: 32

Gand Syndrome (GAND)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gand Syndrome

MalaCards integrated aliases for Gand Syndrome:

Name: Gand Syndrome 57
Mental Retardation, Autosomal Dominant 18 57 72 29 13 6 70
Mrd18 57 72
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome 58
Mental Retardation, Autosomal Dominant 18; Mrd18 57
Syndrome, Gand 39
Gand 57

Characteristics:

Orphanet epidemiological data:

58
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

31
gand syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Gand Syndrome

OMIM® : 57 GAND syndrome is a neurodevelopmental syndrome characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development. Most patients have poor speech acquisition, especially expressive language development, and may manifest signs of speech apraxia. Affected individuals have hypotonia and feeding difficulties in infancy, as well as common dysmorphic features, such as macrocephaly, frontal bossing, hypertelorism, deep-set eyes, posteriorly rotated ears, and elongated wide nose with prominent nasal tip. More variable features may include seizures, cardiac abnormalities, and nonspecific findings on brain imaging (summary by Shieh et al., 2020). (615074) (Updated 05-Apr-2021)

MalaCards based summary : Gand Syndrome, also known as mental retardation, autosomal dominant 18, is related to gatad2b-associated neurodevelopmental disorder and autosomal dominant non-syndromic intellectual disability 18. An important gene associated with Gand Syndrome is GATAD2B (GATA Zinc Finger Domain Containing 2B). Affiliated tissues include eye and brain, and related phenotypes are hyperactivity and tics

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 18: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD18 patients have severe intellectual disability and dysmorphic features.

Related Diseases for Gand Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 gatad2b-associated neurodevelopmental disorder 11.3
2 autosomal dominant non-syndromic intellectual disability 18 11.0
3 alacrima, achalasia, and mental retardation syndrome 10.0
4 hypotonia 10.0
5 hypertelorism 9.9
6 cervical cancer 9.9
7 apraxia 9.9
8 neutropenia 9.9
9 diarrhea 9.9
10 poliomyelitis 9.9
11 polyhydramnios 9.9
12 cleft lip 9.9
13 childhood apraxia of speech 9.9
14 cleft lip/palate 9.9

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



Diseases related to Gand Syndrome

Symptoms & Phenotypes for Gand Syndrome

Human phenotypes related to Gand Syndrome:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperactivity 58 31 occasional (7.5%) Frequent (79-30%) HP:0000752
2 tics 58 31 occasional (7.5%) Occasional (29-5%) HP:0100033
3 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
4 intellectual disability, severe 58 31 very rare (1%) Frequent (79-30%) HP:0010864
5 strabismus 58 31 very rare (1%) Frequent (79-30%) HP:0000486
6 short philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000322
7 broad nasal tip 58 31 very rare (1%) Frequent (79-30%) HP:0000455
8 sparse hair 31 very rare (1%) HP:0008070
9 language impairment 31 very rare (1%) HP:0002463
10 hypertelorism 58 31 Occasional (29-5%) HP:0000316
11 wide mouth 58 31 Frequent (79-30%) HP:0000154
12 thin upper lip vermilion 58 31 Frequent (79-30%) HP:0000219
13 deeply set eye 58 31 Occasional (29-5%) HP:0000490
14 broad forehead 58 31 Frequent (79-30%) HP:0000337
15 poor speech 58 31 Frequent (79-30%) HP:0002465
16 long fingers 58 31 Frequent (79-30%) HP:0100807
17 narrow palpebral fissure 58 31 Occasional (29-5%) HP:0045025
18 long toe 58 31 Occasional (29-5%) HP:0010511
19 inappropriate laughter 58 31 Occasional (29-5%) HP:0000748
20 frontal bossing 58 Occasional (29-5%)
21 sleep disturbance 58 Occasional (29-5%)
22 high palate 58 Occasional (29-5%)
23 depressed nasal bridge 58 Occasional (29-5%)
24 wide nasal bridge 31 HP:0000431
25 neonatal hypotonia 31 HP:0001319
26 intrauterine growth retardation 58 Occasional (29-5%)
27 micrognathia 58 Occasional (29-5%)
28 epicanthus 58 Occasional (29-5%)
29 joint laxity 58 Occasional (29-5%)
30 upslanted palpebral fissure 58 Occasional (29-5%)
31 fine hair 58 Frequent (79-30%)
32 hypospadias 58 Occasional (29-5%)
33 blepharophimosis 31 HP:0000581
34 astigmatism 58 Occasional (29-5%)
35 feeding difficulties 58 Occasional (29-5%)
36 autistic behavior 58 Occasional (29-5%)
37 abnormality of the cerebral white matter 58 Frequent (79-30%)
38 low frustration tolerance 58 Occasional (29-5%)
39 lower limb spasticity 58 Occasional (29-5%)
40 self-mutilation 58 Occasional (29-5%)
41 optic nerve hypoplasia 58 Occasional (29-5%)
42 long palpebral fissure 58 Occasional (29-5%)
43 incomprehensible speech 58 Occasional (29-5%)
44 hypermetropia 31 HP:0000540
45 broad distal phalanx of finger 58 Occasional (29-5%)
46 periorbital fullness 58 Occasional (29-5%)
47 absence seizure 58 Frequent (79-30%)
48 facial grimacing 58 Frequent (79-30%)
49 infantile muscular hypotonia 58 Frequent (79-30%)
50 delayed myelination 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
hypertelorism
strabismus
astigmatism
optic nerve hypoplasia
hypermetropia
more
Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
oromotor difficulties

Head And Neck Ears:
posteriorly rotated ears

Neurologic Behavioral Psychiatric Manifestations:
autistic behavior
hyperactivity
tics
stereotypic behavior
easy frustration

Skeletal Hands:
long fingers

Cardiovascular Heart:
bicuspid aortic valve (in some patients)
pulmonary artery stenosis (in some patients)
aortic stenosis (in some patients)

Head And Neck Face:
frontal bossing
prominent supraorbital ridges
short philtrum
pointed chin
broad forehead

Skeletal Feet:
pes planus
long toes

Skin Nails Hair Hair:
sparse hair
blond hair
thin hair

Head And Neck Nose:
prominent nose
broad nasal bridge
bulbous nasal tip
tubular nose

Neurologic Central Nervous System:
unsteady gait
speech apraxia
inability to walk
hypotonia
enlarged ventricles
more
Head And Neck Mouth:
thin upper lip
high-arched palate
downturned corners of the mouth
broad mouth

Clinical features from OMIM®:

615074 (Updated 05-Apr-2021)

Drugs & Therapeutics for Gand Syndrome

Search Clinical Trials , NIH Clinical Center for Gand Syndrome

Genetic Tests for Gand Syndrome

Genetic tests related to Gand Syndrome:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 18 29 GATAD2B

Anatomical Context for Gand Syndrome

MalaCards organs/tissues related to Gand Syndrome:

40
Eye, Brain

Publications for Gand Syndrome

Articles related to Gand Syndrome:

# Title Authors PMID Year
1
GATAD2B-related intellectual disability due to parental mosaicism and review of literature. 61 6 57
31205050 2019
2
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 6 57
31949314 2020
3
Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent. 57 6
30346093 2018
4
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 6 57
28077840 2017
5
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. 57 6
23644463 2013
6
Diagnostic exome sequencing in persons with severe intellectual disability. 6 57
23033978 2012
7
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). 57
32688057 2020

Variations for Gand Syndrome

ClinVar genetic disease variations for Gand Syndrome:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATAD2B GATAD2B, ASN195LYSfsTER30 Variation Pathogenic 39666 GRCh37:
GRCh38:
2 GATAD2B NM_020699.4(GATAD2B):c.563_564AG[1] (p.Gln190fs) Microsatellite Pathogenic 65423 rs886037647 GRCh37: 1:153791298-153791299
GRCh38: 1:153818822-153818823
3 GATAD2B NM_020699.4(GATAD2B):c.981del (p.Thr328fs) Deletion Pathogenic 211069 rs797045594 GRCh37: 1:153788984-153788984
GRCh38: 1:153816508-153816508
4 GATAD2B NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter) SNV Pathogenic 584436 rs1557781252 GRCh37: 1:153788890-153788890
GRCh38: 1:153816414-153816414
5 GATAD2B NM_020699.4(GATAD2B):c.1411C>T (p.Gln471Ter) SNV Pathogenic 620074 GRCh37: 1:153785734-153785734
GRCh38: 1:153813258-153813258
6 GATAD2B NM_020699.4(GATAD2B):c.185del (p.Glu62fs) Deletion Pathogenic 638011 rs1570938014 GRCh37: 1:153800639-153800639
GRCh38: 1:153828163-153828163
7 GATAD2B NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs) Deletion Pathogenic 638585 rs1570929072 GRCh37: 1:153790575-153790578
GRCh38: 1:153818099-153818102
8 GATAD2B NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter) SNV Pathogenic 801547 rs1570929904 GRCh37: 1:153791290-153791290
GRCh38: 1:153818814-153818814
9 GATAD2B NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter) SNV Pathogenic 981465 GRCh37: 1:153792182-153792182
GRCh38: 1:153819706-153819706
10 GATAD2B NM_020699.4(GATAD2B):c.539T>C (p.Leu180Pro) SNV Pathogenic 982259 GRCh37: 1:153791325-153791325
GRCh38: 1:153818849-153818849
11 GATAD2B NM_020699.4(GATAD2B):c.1258T>C (p.Cys420Arg) SNV Pathogenic 982260 GRCh37: 1:153785887-153785887
GRCh38: 1:153813411-153813411
12 GATAD2B NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter) SNV Pathogenic 982995 GRCh37: 1:153789853-153789853
GRCh38: 1:153817377-153817377
13 GATAD2B NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) SNV Pathogenic 39665 rs587776931 GRCh37: 1:153785737-153785737
GRCh38: 1:153813261-153813261
14 GATAD2B NM_020699.4(GATAD2B):c.1196_1197AG[1] (p.Ser400fs) Microsatellite Pathogenic 916018 GRCh37: 1:153788766-153788767
GRCh38: 1:153816290-153816291
15 overlap with 15 genes GRCh37/hg19 1q21.3(chr1:153701504-154218584) copy number loss Pathogenic 625770 GRCh37: 1:153701504-154218584
GRCh38:
16 GATAD2B NM_020699.4(GATAD2B):c.1419+1G>A SNV Pathogenic 977605 GRCh37: 1:153785725-153785725
GRCh38: 1:153813249-153813249
17 GATAD2B NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) SNV Pathogenic 435290 rs1553188463 GRCh37: 1:153791329-153791329
GRCh38: 1:153818853-153818853
18 GATAD2B NM_020699.4(GATAD2B):c.918del (p.Pro307fs) Deletion Pathogenic 419376 rs1064793829 GRCh37: 1:153789047-153789047
GRCh38: 1:153816571-153816571
19 GATAD2B NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter) SNV Pathogenic 432992 rs1553188314 GRCh37: 1:153790536-153790536
GRCh38: 1:153818060-153818060
20 GATAD2B NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) SNV Pathogenic 265610 rs761820222 GRCh37: 1:153784596-153784596
GRCh38: 1:153812120-153812120
21 GATAD2B NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) SNV Pathogenic 280408 rs886041621 GRCh37: 1:153792201-153792201
GRCh38: 1:153819725-153819725
22 GATAD2B NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) SNV Pathogenic 381463 rs1057521041 GRCh37: 1:153785904-153785904
GRCh38: 1:153813428-153813428
23 GATAD2B NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter) SNV Pathogenic 448968 rs1553187446 GRCh37: 1:153784602-153784602
GRCh38: 1:153812126-153812126
24 GATAD2B NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter) SNV Pathogenic 435288 rs1553187443 GRCh37: 1:153784599-153784599
GRCh38: 1:153812123-153812123
25 GATAD2B NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs) Duplication Pathogenic 430624 rs1131692164 GRCh37: 1:153800743-153800744
GRCh38: 1:153828267-153828268
26 GATAD2B NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs) Deletion Pathogenic 430625 rs1131692165 GRCh37: 1:153791309-153791312
GRCh38: 1:153818833-153818836
27 GATAD2B NM_020699.4(GATAD2B):c.694C>T (p.Gln232Ter) SNV Pathogenic 374387 rs1057518674 GRCh37: 1:153790551-153790551
GRCh38: 1:153818075-153818075
28 GATAD2B NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His) SNV Likely pathogenic 931138 GRCh37: 1:153784582-153784582
GRCh38: 1:153812106-153812106
29 GATAD2B NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter) SNV Likely pathogenic 988718 GRCh37: 1:153784587-153784587
GRCh38: 1:153812111-153812111
30 overlap with 10 genes Deletion Likely pathogenic 560045 GRCh37: 1:153859810-154034971
GRCh38: 1:153887335-154062496
31 GATAD2B NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln) SNV Likely pathogenic 1029765 GRCh37: 1:153782655-153782655
GRCh38: 1:153810179-153810179
32 GATAD2B NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter) SNV Likely pathogenic 816673 rs1570938113 GRCh37: 1:153800733-153800733
GRCh38: 1:153828257-153828257
33 GATAD2B NM_020699.4(GATAD2B):c.597+1G>A SNV Likely pathogenic 666293 rs1570929867 GRCh37: 1:153791266-153791266
GRCh38: 1:153818790-153818790
34 GATAD2B NM_020699.4(GATAD2B):c.598-1G>A SNV Likely pathogenic 982401 GRCh37: 1:153790648-153790648
GRCh38: 1:153818172-153818172
35 GATAD2B NM_020699.4(GATAD2B):c.387del (p.Asp130fs) Deletion Likely pathogenic 801548 rs756062872 GRCh37: 1:153792160-153792160
GRCh38: 1:153819684-153819684
36 GATAD2B NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter) SNV Likely pathogenic 545450 rs1553187362 GRCh37: 1:153784318-153784318
GRCh38: 1:153811842-153811842
37 GATAD2B NM_020699.4(GATAD2B):c.597+2_597+3dup Duplication Uncertain significance 931087 GRCh37: 1:153791263-153791264
GRCh38: 1:153818787-153818788
38 GATAD2B NM_020699.4(GATAD2B):c.766C>T (p.Leu256Phe) SNV Uncertain significance 931111 GRCh37: 1:153789982-153789982
GRCh38: 1:153817506-153817506
39 GATAD2B NM_020699.4(GATAD2B):c.230A>G (p.Glu77Gly) SNV Uncertain significance 1029766 GRCh37: 1:153800594-153800594
GRCh38: 1:153828118-153828118
40 GATAD2B NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val) SNV Uncertain significance 211067 rs372276373 GRCh37: 1:153782682-153782682
GRCh38: 1:153810206-153810206
41 GATAD2B NM_020699.4(GATAD2B):c.947T>A (p.Ile316Asn) SNV Uncertain significance 1033947 GRCh37: 1:153789018-153789018
GRCh38: 1:153816542-153816542
42 GATAD2B NM_020699.4(GATAD2B):c.1154A>G (p.Asn385Ser) SNV Likely benign 375617 rs1057519401 GRCh37: 1:153788811-153788811
GRCh38: 1:153816335-153816335

Expression for Gand Syndrome

Search GEO for disease gene expression data for Gand Syndrome.

Pathways for Gand Syndrome

GO Terms for Gand Syndrome

Sources for Gand Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....