MCID: GRN052
MIFTS: 18

Grin2b-Related Neurodevelopmental Disorder

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Grin2b-Related Neurodevelopmental Disorder

MalaCards integrated aliases for Grin2b-Related Neurodevelopmental Disorder:

Name: Grin2b-Related Neurodevelopmental Disorder 24 52 25
Grin2b Encephalopathy 24 52 25 29
Grin2b Related Syndrome 52 25
Intellectual Disability, Autosomal Dominant 6, with or Without Seizures 52
Epileptic Encephalopathy, Early Infantile, 27 25
Autosomal Dominant Intellectual Disability-6 52
Grin2b-Related Intellectual Disability 52
Grin2b-Related Disorder 6
Eiee27 25

Characteristics:

GeneReviews:

24
Penetrance Penetrance of grin2b-related neurodevelopmental disorder is thought to be 100%.

Classifications:



Summaries for Grin2b-Related Neurodevelopmental Disorder

Genetics Home Reference : 25 GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system. Neurodevelopmental disorders result from impaired growth and development of the central nervous system, which includes the brain and spinal cord, and the nerves connecting them. These disorders often affect learning ability, memory, and behavior and can be associated with other neurological problems. GRIN2B Individuals with GRIN2B-related neurodevelopmental disorder have mild to profound intellectual disability and delayed development of speech and motor skills, such as sitting and walking. Some affected individuals never develop speech or the ability to walk on their own. Many people with this condition have weak muscle tone (hypotonia), which can contribute to the problems developing motor skills and lead to difficulty eating. Some affected individuals have abnormal muscle stiffness (spasticity), which can also cause problems with movement. GRIN2B Recurrent seizures (epilepsy) occur in about half of people with GRIN2B-related neurodevelopmental disorder. About one-quarter of affected individuals have features of autism spectrum disorder, which is characterized by impaired communication and social interaction. Other behavioral problems are also possible. These individuals may be hyperactive, impulsive, or easily distractible, and some are described as being overly friendly. Sleeping difficulties can also occur in this condition. GRIN2B Less common features of GRIN2B-related neurodevelopmental disorder include structural brain abnormalities, an unusually small head size (microcephaly), impaired vision, and involuntary muscle movements. GRIN2B

MalaCards based summary : Grin2b-Related Neurodevelopmental Disorder, also known as grin2b encephalopathy, is related to mental retardation, autosomal dominant 6, with or without seizures and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Grin2b-Related Neurodevelopmental Disorder is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B). Affiliated tissues include brain and spinal cord.

NIH Rare Diseases : 52 GRIN2B related syndrome is a genetic disorder that causes developmental delay and intellectual disability . Intellectual disability ranges from mild to severe. Other symptoms may include low muscle tone (hypotonia ), seizures , behavior problems including autistic features, abnormal movements, a very small head (microcephaly ), and developmental regression . Some children have brain malformations that can be seen in brain imaging exams. This disorder is caused by variations (mutations ) in the GRIN2B gene , which plays a role in the transmission of signals in the brain. Inheritance is autosomal dominant . Treatment depends on the symptoms seen in each person. In some cases, the medication memantine was used with good results, but more studies are needed to know if it is broadly effective.

GeneReviews: NBK501979

Related Diseases for Grin2b-Related Neurodevelopmental Disorder

Graphical network of the top 20 diseases related to Grin2b-Related Neurodevelopmental Disorder:



Diseases related to Grin2b-Related Neurodevelopmental Disorder

Symptoms & Phenotypes for Grin2b-Related Neurodevelopmental Disorder

Drugs & Therapeutics for Grin2b-Related Neurodevelopmental Disorder

Search Clinical Trials , NIH Clinical Center for Grin2b-Related Neurodevelopmental Disorder

Genetic Tests for Grin2b-Related Neurodevelopmental Disorder

Genetic tests related to Grin2b-Related Neurodevelopmental Disorder:

# Genetic test Affiliating Genes
1 Grin2b Encephalopathy 29

Anatomical Context for Grin2b-Related Neurodevelopmental Disorder

MalaCards organs/tissues related to Grin2b-Related Neurodevelopmental Disorder:

40
Brain, Spinal Cord

Publications for Grin2b-Related Neurodevelopmental Disorder

Articles related to Grin2b-Related Neurodevelopmental Disorder:

(show all 29)
# Title Authors PMID Year
1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 61 24
28377535 2017
2
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. 24
28837158 2018
3
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. 24
29365063 2018
4
GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors. 24
28533163 2017
5
Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy. 24
27605359 2016
6
Clinical application of whole-exome sequencing across clinical indications. 24
26633542 2016
7
Novel genetic causes for cerebral visual impairment. 24
26350515 2016
8
Timing, rates and spectra of human germline mutation. 24
26656846 2016
9
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 24
26350204 2015
10
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 24
25590979 2015
11
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. 24
26077850 2015
12
Large-scale discovery of novel genetic causes of developmental disorders. 24
25533962 2015
13
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. 24
26544041 2015
14
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 24
25418537 2014
15
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 24
24863970 2014
16
De novo mutations in moderate or severe intellectual disability. 24
25356899 2014
17
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. 24
24126926 2014
18
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24
24272827 2014
19
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. 24
23918416 2013
20
De novo mutations in epileptic encephalopathies. 24
23934111 2013
21
NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease. 24
23686171 2013
22
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. 24
23718928 2013
23
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 24
23160955 2012
24
Diagnostic exome sequencing in persons with severe intellectual disability. 24
23033978 2012
25
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. 24
22521361 2012
26
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. 24
22833210 2011
27
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 24
20890276 2010
28
Glutamate receptor ion channels: structure, regulation, and function. 24
20716669 2010
29
GRIN2B-Related Neurodevelopmental Disorder 61
29851452 2018

Variations for Grin2b-Related Neurodevelopmental Disorder

ClinVar genetic disease variations for Grin2b-Related Neurodevelopmental Disorder:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIN2B NM_000834.4(GRIN2B):c.466G>A (p.Val156Ile)SNV Uncertain significance 546534 rs1555133189 12:13906795-13906795 12:13753861-13753861

Expression for Grin2b-Related Neurodevelopmental Disorder

Search GEO for disease gene expression data for Grin2b-Related Neurodevelopmental Disorder.

Pathways for Grin2b-Related Neurodevelopmental Disorder

GO Terms for Grin2b-Related Neurodevelopmental Disorder

Sources for Grin2b-Related Neurodevelopmental Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
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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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