MCID: XQ2002
MIFTS: 9

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 25

Summaries for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

MalaCards based summary : Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated is related to ige responsiveness, atopic and strabismus. An important gene associated with Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated is CLIC2 (Chloride Intracellular Channel 2).

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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 ige responsiveness, atopic 10.4
2 strabismus 10.4
3 cryptorchidism, unilateral or bilateral 10.4
4 allergic rhinitis 10.4
5 alacrima, achalasia, and mental retardation syndrome 10.4
6 hypospadias 10.4
7 psychotic disorder 10.4
8 dermatitis 10.4
9 rhinitis 10.4
10 mechanical strabismus 10.4
11 refractive error 10.4
12 haemophilus influenzae 10.4
13 chromosome xq28 duplication syndrome 9.7 RAB39B CLIC2
14 developmental and epileptic encephalopathy 8 9.6 RAB39B CLIC2
15 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.6 RAB39B CLIC2
16 non-syndromic x-linked intellectual disability 9.5 RAB39B CLIC2

Graphical network of the top 20 diseases related to Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated:



Diseases related to Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

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

Publications for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

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

(show all 16)
# Title Authors PMID Year
1
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. 25
32112660 2020
2
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. 25
27066548 2015
3
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition. 25
25784538 2015
4
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. 25
25927380 2015
5
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 25
25434005 2014
6
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability. 25
24700761 2014
7
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. 25
24357492 2014
8
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene. 25
23299923 2013
9
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 25
22814392 2012
10
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. 25
21984752 2011
11
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 25
20159109 2010
12
CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy. 25
19356589 2009
13
Rab GTPases and their roles in brain neurons and glia. 25
18485483 2008
14
Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. 25
16241967 2005
15
CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels. 25
15147738 2004
16
Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated 61
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

Sources for Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated

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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