MCID: CHR639
MIFTS: 14

Chromosome Xp11.22 Duplication Syndrome

Categories: Neuronal diseases, Mental 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
Mental Retardation, X-Linked 31 57 73
Mental Retardation, X-Linked 17 75 73
Mrx17 57 75
Mrx31 57 75
Non-Specific X-Linked Mental Retardation Type 17 75
Mental Retardation Non-Syndromic X-Linked 17 75
Mental Retardation, X-Linked 17; Mrx17 57
Mental Retardation, X-Linked 31; Mrx31 57
Xp11.22 Microduplication Syndrome 57
Mental Retardation X-Linked 31 75

Characteristics:

HPO:

32
chromosome xp11.22 duplication syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Chromosome Xp11.22 Duplication Syndrome

UniProtKB/Swiss-Prot : 75 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 delayed speech and language development and intellectual disability

Description from OMIM: 300705

Related Diseases for Chromosome Xp11.22 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xp11.22 Duplication Syndrome

Clinical features from OMIM:

300705

Human phenotypes related to Chromosome Xp11.22 Duplication Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 intellectual disability 32 HP:0001249

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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