MRX17
MCID: CHR639
MIFTS: 14

Chromosome Xp11.22 Duplication Syndrome (MRX17)

Categories: 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 58
Mental Retardation, X-Linked 31 58 74
Mental Retardation, X-Linked 17 76 74
Mrx17 58 76
Mrx31 58 76
Non-Specific X-Linked Mental Retardation Type 17 76
Mental Retardation Non-Syndromic X-Linked 17 76
Mental Retardation, X-Linked 17; Mrx17 58
Mental Retardation, X-Linked 31; Mrx31 58
Xp11.22 Microduplication Syndrome 58
Mental Retardation X-Linked 31 76

Characteristics:

HPO:

33
chromosome xp11.22 duplication syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Chromosome Xp11.22 Duplication Syndrome

UniProtKB/Swiss-Prot : 76 Mental retardation, X-linked 17: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Chromosome Xp11.22 Duplication Syndrome, is also known as mental retardation, x-linked 31. 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

Description from OMIM: 300705

Related Diseases for Chromosome Xp11.22 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xp11.22 Duplication Syndrome

Human phenotypes related to Chromosome Xp11.22 Duplication Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 delayed speech and language development 33 HP:0000750

Clinical features from OMIM:

300705

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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