Aliases & Classifications for Iqsec2

MalaCards integrated aliases for Iqsec2:

Name: Iqsec2 54
Iqsec2-Related Intellectual Disability 54
X-Linked Intellectual Disability 1/78 54
X-Linked Intellectual Disability 78 54
X-Linked Intellectual Disability 1 54
Iqsec2-Related Epilepsy 54

Classifications:



Summaries for Iqsec2

NIH Rare Diseases : 54 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 alacrima, achalasia, and mental retardation syndrome and non-syndromic x-linked intellectual disability. An important gene associated with Iqsec2 is IQSEC2 (IQ Motif And Sec7 Domain 2). Affiliated tissues include eye.

Wikipedia : 77 IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2... more...

Related Diseases for Iqsec2

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:

42
Eye

Publications for Iqsec2

Articles related to Iqsec2:

(show all 22)
# Title Authors Year
1
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors. ( 30842726 )
2019
2
Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. ( 30666632 )
2019
3
BRAG1/IQSEC2 as a regulator of small GTPase-dependent trafficking. ( 29363391 )
2018
4
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. ( 30206421 )
2018
5
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. ( 30279470 )
2018
6
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. ( 30328660 )
2018
7
Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation. ( 29026562 )
2017
8
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. ( 28815955 )
2017
9
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. ( 28295038 )
2017
10
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. ( 28463240 )
2017
11
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. ( 26059843 )
2016
12
Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. ( 27009485 )
2016
13
The molecular and phenotypic spectrum of IQSEC2-related epilepsy. ( 27665735 )
2016
14
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. ( 26733290 )
2016
15
IQSEC2 and X-linked syndromal intellectual disability. ( 27010919 )
2016
16
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features. ( 25858702 )
2015
17
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. ( 26793055 )
2015
18
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. ( 23674175 )
2014
19
Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis. ( 24306141 )
2013
20
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. ( 21686261 )
2010
21
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. ( 20473311 )
2010
22
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. ( 21479374 )
2008

Variations for Iqsec2

Expression for Iqsec2

Search GEO for disease gene expression data for Iqsec2.

Pathways for Iqsec2

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 KDM5C TSPYL2

Sources for Iqsec2

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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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