MCID: GTD002
MIFTS: 18

Gatad2b-Associated Neurodevelopmental Disorder

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Gatad2b-Associated Neurodevelopmental Disorder

MalaCards integrated aliases for Gatad2b-Associated Neurodevelopmental Disorder:

Name: Gatad2b-Associated Neurodevelopmental Disorder 20
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome 20

Classifications:



Summaries for Gatad2b-Associated Neurodevelopmental Disorder

GARD : 20 GATAD2B -associated neurodevelopmental disorder (GAND) affects the way the brain develops. Symptoms of GAND include moderate to severe intellectual disability, poor speech development, and large head size. Other signs and symptoms may include low muscle tone in children (childhood hypotonia ), feeding problems, heart problems and shared facial features. Because so few cases have been described in the medical literature, it is difficult to know how this condition changes over time. GAND is caused by a GATAD2B gene that is absent or not working correctly. It usually occurs in a family for the first time due to a new genetic change ( de novo ) and may be inherited in an autosomal dominant pattern. GAND is diagnosed based on the symptoms, a clinical exam and genetic testing. Treatment is focused on managing the symptoms.

MalaCards based summary : Gatad2b-Associated Neurodevelopmental Disorder, also known as severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, is related to gand syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Gatad2b-Associated Neurodevelopmental Disorder is GATAD2B (GATA Zinc Finger Domain Containing 2B). Affiliated tissues include eye, and related phenotypes are global developmental delay and intellectual disability, severe

Related Diseases for Gatad2b-Associated Neurodevelopmental Disorder

Diseases related to Gatad2b-Associated Neurodevelopmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gand syndrome 10.3
2 alacrima, achalasia, and mental retardation syndrome 10.3
3 hypotonia 10.3
4 hypertelorism 10.2
5 apraxia 10.2
6 polyhydramnios 10.2
7 childhood apraxia of speech 10.2

Graphical network of the top 20 diseases related to Gatad2b-Associated Neurodevelopmental Disorder:



Diseases related to Gatad2b-Associated Neurodevelopmental Disorder

Symptoms & Phenotypes for Gatad2b-Associated Neurodevelopmental Disorder

Human phenotypes related to Gatad2b-Associated Neurodevelopmental Disorder:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 frequent (33%) HP:0001263
2 intellectual disability, severe 31 frequent (33%) HP:0010864
3 strabismus 31 frequent (33%) HP:0000486
4 wide mouth 31 frequent (33%) HP:0000154
5 thin upper lip vermilion 31 frequent (33%) HP:0000219
6 fine hair 31 frequent (33%) HP:0002213
7 short philtrum 31 frequent (33%) HP:0000322
8 broad forehead 31 frequent (33%) HP:0000337
9 hyperactivity 31 frequent (33%) HP:0000752
10 broad nasal tip 31 frequent (33%) HP:0000455
11 abnormality of the cerebral white matter 31 frequent (33%) HP:0002500
12 poor speech 31 frequent (33%) HP:0002465
13 long fingers 31 frequent (33%) HP:0100807
14 facial grimacing 31 frequent (33%) HP:0000273
15 infantile muscular hypotonia 31 frequent (33%) HP:0008947
16 delayed myelination 31 frequent (33%) HP:0012448
17 hyperopic astigmatism 31 frequent (33%) HP:0000484
18 generalized non-motor (absence) seizure 31 frequent (33%) HP:0002121
19 frontal bossing 31 occasional (7.5%) HP:0002007
20 sleep disturbance 31 occasional (7.5%) HP:0002360
21 high palate 31 occasional (7.5%) HP:0000218
22 depressed nasal bridge 31 occasional (7.5%) HP:0005280
23 hypertelorism 31 occasional (7.5%) HP:0000316
24 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
25 micrognathia 31 occasional (7.5%) HP:0000347
26 epicanthus 31 occasional (7.5%) HP:0000286
27 joint laxity 31 occasional (7.5%) HP:0001388
28 upslanted palpebral fissure 31 occasional (7.5%) HP:0000582
29 deeply set eye 31 occasional (7.5%) HP:0000490
30 hypospadias 31 occasional (7.5%) HP:0000047
31 feeding difficulties 31 occasional (7.5%) HP:0011968
32 autistic behavior 31 occasional (7.5%) HP:0000729
33 low frustration tolerance 31 occasional (7.5%) HP:0000744
34 lower limb spasticity 31 occasional (7.5%) HP:0002061
35 self-mutilation 31 occasional (7.5%) HP:0000742
36 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609
37 long palpebral fissure 31 occasional (7.5%) HP:0000637
38 incomprehensible speech 31 occasional (7.5%) HP:0002546
39 broad distal phalanx of finger 31 occasional (7.5%) HP:0009836
40 narrow palpebral fissure 31 occasional (7.5%) HP:0045025
41 periorbital fullness 31 occasional (7.5%) HP:0000629
42 long toe 31 occasional (7.5%) HP:0010511
43 inappropriate laughter 31 occasional (7.5%) HP:0000748
44 tics 31 occasional (7.5%) HP:0100033
45 chronic constipation 31 occasional (7.5%) HP:0012450
46 obsessive-compulsive trait 31 occasional (7.5%) HP:0008770
47 widely-spaced maxillary central incisors 31 occasional (7.5%) HP:0001566

Drugs & Therapeutics for Gatad2b-Associated Neurodevelopmental Disorder

Search Clinical Trials , NIH Clinical Center for Gatad2b-Associated Neurodevelopmental Disorder

Genetic Tests for Gatad2b-Associated Neurodevelopmental Disorder

Anatomical Context for Gatad2b-Associated Neurodevelopmental Disorder

MalaCards organs/tissues related to Gatad2b-Associated Neurodevelopmental Disorder:

40
Eye

Publications for Gatad2b-Associated Neurodevelopmental Disorder

Articles related to Gatad2b-Associated Neurodevelopmental Disorder:

# Title Authors PMID Year
1
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). 61
32688057 2020
2
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 61
31949314 2020
3
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 61
32047287 2020
4
The NuRD complex and macrocephaly associated neurodevelopmental disorders. 61
31737996 2019
5
Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent. 61
30346093 2018

Variations for Gatad2b-Associated Neurodevelopmental Disorder

Expression for Gatad2b-Associated Neurodevelopmental Disorder

Search GEO for disease gene expression data for Gatad2b-Associated Neurodevelopmental Disorder.

Pathways for Gatad2b-Associated Neurodevelopmental Disorder

GO Terms for Gatad2b-Associated Neurodevelopmental Disorder

Sources for Gatad2b-Associated Neurodevelopmental Disorder

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
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