MRX17
MCID: CHR639
MIFTS: 17

Chromosome Xp11.22 Duplication Syndrome (MRX17)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Chromosome Xp11.22 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xp11.22 Duplication Syndrome:

Name: Chromosome Xp11.22 Duplication Syndrome 57 12
Xp11.22 Microduplication Syndrome 57 12
Mental Retardation, X-Linked 31 57 70
Mrx17 57 12
Mrx31 57 12
Mental Retardation, X-Linked 17; Mrx17 57
Mental Retardation, X-Linked 31; Mrx31 57
Syndrome, , Microduplication Xp11.22 39
Mental Retardation, X-Linked 17 70
X-Linked Mental Retardation 31 12

Characteristics:

HPO:

31
chromosome xp11.22 duplication syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112037
OMIM® 57 300705
OMIM Phenotypic Series 57 PS309530
MedGen 41 C0796238
UMLS 70 C0796223 C0796238

Summaries for Chromosome Xp11.22 Duplication Syndrome

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has material basis in duplication of a small region within chromosome Xp11.22 involving both HSD17B10 and HUWE1.

MalaCards based summary : Chromosome Xp11.22 Duplication Syndrome, also known as xp11.22 microduplication syndrome, is related to methylmalonic acidemia and homocysteinemia, cblx type and non-syndromic x-linked intellectual disability. An important gene associated with Chromosome Xp11.22 Duplication Syndrome is DUPXP11.22 (Xp11.22 Microduplication Syndrome). Related phenotypes are intellectual disability and delayed speech and language development

More information from OMIM: 300705 PS309530

Related Diseases for Chromosome Xp11.22 Duplication Syndrome

Diseases related to Chromosome Xp11.22 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia and homocysteinemia, cblx type 9.9
2 non-syndromic x-linked intellectual disability 9.9
3 non-syndromic x-linked intellectual disability 2 9.9
4 non-syndromic x-linked intellectual disability 30 9.9

Symptoms & Phenotypes for Chromosome Xp11.22 Duplication Syndrome

Human phenotypes related to Chromosome Xp11.22 Duplication Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 delayed speech and language development 31 HP:0000750

Clinical features from OMIM®:

300705 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome Xp11.22 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xp11.22 Duplication Syndrome

Genetic Tests for Chromosome Xp11.22 Duplication Syndrome

Anatomical Context for Chromosome Xp11.22 Duplication Syndrome

Publications for Chromosome Xp11.22 Duplication Syndrome

Articles related to Chromosome Xp11.22 Duplication Syndrome:

# Title Authors PMID Year
1
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 57 61
18252223 2008
2
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). 61 57
8826460 1996
3
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. 57
22840365 2012
4
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. 57
18047645 2007
5
Pericentromeric genes for non-specific X-linked mental retardation (MRX). 57
7943039 1994

Variations for Chromosome Xp11.22 Duplication Syndrome

Expression for Chromosome Xp11.22 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome Xp11.22 Duplication Syndrome.

Pathways for Chromosome Xp11.22 Duplication Syndrome

GO Terms for Chromosome Xp11.22 Duplication Syndrome

Sources for Chromosome Xp11.22 Duplication Syndrome

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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