MCID: XQ2002
MIFTS: 8

Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Aliases & Classifications for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

MalaCards integrated aliases for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated:

Name: Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated 24

Characteristics:

GeneReviews:

24
Penetrance Int22h1/int22h2-mediated xq28 duplication syndrome is completely penetrant for cognitive impairment in males....

Summaries for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

MalaCards based summary : Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated is related to alacrima, achalasia, and mental retardation syndrome and bacterial infectious disease. An important gene associated with Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated is CLIC2 (Chloride Intracellular Channel 2). Affiliated tissues include brain.

GeneReviews: NBK349624

Related Diseases for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Diseases related to Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.4
2 bacterial infectious disease 10.4
3 chromosome xq28 duplication syndrome 9.5 RAB39B CLIC2

Symptoms & Phenotypes for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Drugs & Therapeutics for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Search Clinical Trials , NIH Clinical Center for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Genetic Tests for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Anatomical Context for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

MalaCards organs/tissues related to Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated:

41
Brain

Publications for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Articles related to Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated:

(show all 12)
# Title Authors PMID Year
1
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. 4
25927380 2015
2
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability. 4
24700761 2014
3
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. 4
24357492 2014
4
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene. 4
23299923 2013
5
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 4
22814392 2012
6
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. 4
21984752 2011
7
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 4
20159109 2010
8
Rab GTPases as coordinators of vesicle traffic. 4
19603039 2009
9
CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy. 4
19356589 2009
10
Rab GTPases and their roles in brain neurons and glia. 4
18485483 2008
11
Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. 4
16241967 2005
12
Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated 38
26962617 2016

Variations for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Expression for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Search GEO for disease gene expression data for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated.

Pathways for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

GO Terms for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

Cellular components related to Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 8.62 RAB39B CLIC2

Sources for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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45 MESH via Orphanet
46 MGI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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