Aliases & Classifications for Iqsec2

MalaCards integrated aliases for Iqsec2:

Name: Iqsec2 20
Iqsec2-Related Intellectual Disability 20
X-Linked Intellectual Disability 1/78 20
X-Linked Intellectual Disability 78 20
X-Linked Intellectual Disability 1 20
Iqsec2-Related Epilepsy 20

Classifications:



Summaries for Iqsec2

GARD : 20 IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms. People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features may include abnormal head shape (plagiocephaly), very small head ( microcephaly ), reduced muscle tone ( hypotonia ), and crossed eyes (strabismus). This condition is caused by mutations in the IQSEC2 gene, which is located on chromosome X. Depending on the severity of the gene mutation, the features can range from only intellectual disability to a syndrome that includes the other symptoms. In general, males are more affected than females. Most cases are not inherited from a parent but are caused by a new ( de novo ) mutation. When the condition is inherited, the pattern is called X-linked recessive. There is no specific treatment, but early intervention and other services can support development. Seizure medications such as lamotrigine and rufinamide have been reported to control seizures in some people.

MalaCards based summary : Iqsec2, also known as iqsec2-related intellectual disability, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia and non-syndromic x-linked intellectual disability. An important gene associated with Iqsec2 is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include retina and brain.

Wikipedia : 73 IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2... more...

Related Diseases for Iqsec2

Diseases related to Iqsec2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 31.0 TSPYL2 IQSEC2
2 non-syndromic x-linked intellectual disability 31.0 KDM5C IQSEC2
3 smith-magenis syndrome 30.7 KDM5C IQSEC2
4 mental retardation, x-linked, syndromic, claes-jensen type 30.4 TSPYL2 KDM5C IQSEC2
5 autism 11.2
6 autism spectrum disorder 11.2
7 alacrima, achalasia, and mental retardation syndrome 11.1
8 microcephaly 11.0
9 syndromic intellectual disability 11.0
10 syndromic x-linked intellectual disability 11.0
11 learning disability 11.0
12 non-syndromic x-linked intellectual disability 1 11.0
13 disease of mental health 11.0
14 severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome 11.0
15 non-syndromic intellectual disability 10.9
16 pitt-hopkins syndrome 10.9
17 west syndrome 10.9
18 lennox-gastaut syndrome 10.9
19 mitochondrial complex ii deficiency, nuclear type 1 10.8
20 aicardi syndrome 10.8
21 opitz-kaveggia syndrome 10.8
22 atrial septal defect 8 10.8
23 early infantile epileptic encephalopathy 10.8
24 chromosome 16p11.2 deletion syndrome 10.8
25 syndromic x-linked intellectual disability type 10 10.8
26 cornelia de lange syndrome 10.8
27 bruxism 10.8
28 thymic dysplasia 10.8
29 brain ependymoma 10.8
30 specific learning disability 10.8
31 epilepsy 10.2
32 hypotonia 10.2
33 encephalopathy 10.1
34 strabismus 10.1
35 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.1
36 mechanical strabismus 10.1
37 attention deficit-hyperactivity disorder 10.0
38 plagiocephaly 10.0
39 seizure disorder 10.0
40 rett syndrome 9.8
41 ataxia and polyneuropathy, adult-onset 9.8
42 yemenite deaf-blind hypopigmentation syndrome 9.8
43 scoliosis 9.8
44 cortical blindness 9.8
45 constipation 9.8
46 depression 9.8
47 spasticity 9.8

Graphical network of the top 20 diseases related to Iqsec2:



Diseases related to Iqsec2

Symptoms & Phenotypes for Iqsec2

Drugs & Therapeutics for Iqsec2

Search Clinical Trials , NIH Clinical Center for Iqsec2

Genetic Tests for Iqsec2

Anatomical Context for Iqsec2

MalaCards organs/tissues related to Iqsec2:

40
Retina, Brain

Publications for Iqsec2

Articles related to Iqsec2:

(show top 50) (show all 60)
# Title Authors PMID Year
1
The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 20 61
27665735 2016
2
IQSEC2 and X-linked syndromal intellectual disability. 20 61
27010919 2016
3
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. 61 20
24306141 2014
4
Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant. 61
33494955 2021
5
Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior. 61
33753721 2021
6
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 61
33368194 2021
7
Whole genome sequencing of 45 Japanese patients with intellectual disability. 61
33624935 2021
8
Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. 61
33486335 2021
9
The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome. 61
33125726 2020
10
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy. 61
32564198 2020
11
[Identification of a novel nonsense IQSEC2 variant in a child with X-linked intellectual disability]. 61
32761587 2020
12
Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease. 61
31978606 2020
13
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. 61
31415821 2020
14
Glycine Receptor Complex Analysis Using Immunoprecipitation-Blue Native Gel Electrophoresis-Mass Spectrometry. 61
31984645 2020
15
BRAG1/IQSEC2 as a regulator of small GTPase-dependent trafficking. 61
29363391 2020
16
Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder. 61
32529990 2020
17
Discovery of Prognostic Signature Genes for Overall Survival Prediction in Gastric Cancer. 61
32908579 2020
18
A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family. 61
31829726 2020
19
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability. 61
31906484 2020
20
A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing. 61
31490346 2019
21
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. 61
31512412 2019
22
Rs2262251 in lncRNA RP11-462G12.2 is associated with nonsyndromic cleft lip with/without cleft palate. 61
31283072 2019
23
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. 61
31439632 2019
24
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. 61
30279470 2019
25
IQSEC2-Associated Intellectual Disability and Autism. 61
31234416 2019
26
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. 61
30666632 2019
27
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. 61
30977854 2019
28
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. 61
30206421 2019
29
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. 61
30328660 2019
30
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors. 61
30842726 2019
31
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients. 61
30182498 2018
32
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy. 61
30255931 2018
33
Novel and de novo mutations in pediatric refractory epilepsy. 61
30185235 2018
34
Monogenic disorders that mimic the phenotype of Rett syndrome. 61
29322350 2018
35
Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation. 61
29026562 2017
36
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. 61
28815955 2017
37
Hierarchical organization and genetically separable subfamilies of PSD95 postsynaptic supercomplexes. 61
28452394 2017
38
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. 61
28295038 2017
39
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. 61
28463240 2017
40
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 61
28213671 2017
41
Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 61
27369185 2017
42
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. 61
27062609 2017
43
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 61
27652284 2016
44
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 61
26795593 2016
45
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 61
27476654 2016
46
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 61
26733290 2016
47
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. 61
26059843 2016
48
Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. 61
27009485 2016
49
Next-generation sequencing in X-linked intellectual disability. 61
25649377 2015
50
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 61
25914188 2015

Variations for Iqsec2

Expression for Iqsec2

Search GEO for disease gene expression data for Iqsec2.

Pathways for Iqsec2

Pathways related to Iqsec2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 IQSEC2 ARF6

GO Terms for Iqsec2

Biological processes related to Iqsec2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 8.62 TSPYL2 KDM5C

Sources for Iqsec2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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