MRX1
MCID: NNS083
MIFTS: 14

Non-Syndromic X-Linked Intellectual Disability 1 (MRX1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 1

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 1:

Name: Non-Syndromic X-Linked Intellectual Disability 1 12
Mental Retardation, X-Linked 1/78 29
X-Linked Mental Retardation 1/78 12
Mental Retardation, X-Linked 18 6
X-Linked Mental Retardation 18 12
Mrx18 12
Mrx78 12
Mrx1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112038

Summaries for Non-Syndromic X-Linked Intellectual Disability 1

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has material basis in hemizygous or heterozygous mutation in IQSEC2 on chromosome Xp11.22.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability 1, also known as mental retardation, x-linked 1/78, is related to arts syndrome and non-syndromic x-linked intellectual disability. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 1 is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2).

Related Diseases for Non-Syndromic X-Linked Intellectual Disability 1

Diseases in the Non-Syndromic X-Linked Intellectual Disability family:

Non-Syndromic X-Linked Intellectual Disability 2 Non-Syndromic X-Linked Intellectual Disability 19
Non-Syndromic X-Linked Intellectual Disability 20 Non-Syndromic X-Linked Intellectual Disability 58
Non-Syndromic X-Linked Intellectual Disability 14 Non-Syndromic X-Linked Intellectual Disability 45
Non-Syndromic X-Linked Intellectual Disability 84 Non-Syndromic X-Linked Intellectual Disability 89
Non-Syndromic X-Linked Intellectual Disability 81 Non-Syndromic X-Linked Intellectual Disability 9
Non-Syndromic X-Linked Intellectual Disability 1 Non-Syndromic X-Linked Intellectual Disability 77
Non-Syndromic X-Linked Intellectual Disability 90 Non-Syndromic X-Linked Intellectual Disability 91
Non-Syndromic X-Linked Intellectual Disability 93 Non-Syndromic X-Linked Intellectual Disability 63
Non-Syndromic X-Linked Intellectual Disability 30 Non-Syndromic X-Linked Intellectual Disability 82
Non-Syndromic X-Linked Intellectual Disability 88 Non-Syndromic X-Linked Intellectual Disability 46
Non-Syndromic X-Linked Intellectual Disability 41 Non-Syndromic X-Linked Intellectual Disability 72

Diseases related to Non-Syndromic X-Linked Intellectual Disability 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 arts syndrome 11.4
2 non-syndromic x-linked intellectual disability 10.1
3 alacrima, achalasia, and mental retardation syndrome 9.9
4 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
5 iqsec2 9.9

Graphical network of the top 20 diseases related to Non-Syndromic X-Linked Intellectual Disability 1:



Diseases related to Non-Syndromic X-Linked Intellectual Disability 1

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 1

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 1

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability 1

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 1

Genetic tests related to Non-Syndromic X-Linked Intellectual Disability 1:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 1/78 29

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 1

Publications for Non-Syndromic X-Linked Intellectual Disability 1

Articles related to Non-Syndromic X-Linked Intellectual Disability 1:

# Title Authors PMID Year
1
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 6
20473311 2010
2
Pericentromeric genes for non-specific X-linked mental retardation (MRX). 6
7943039 1994
3
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 61
26793055 2015
4
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. 61
12210308 2002

Variations for Non-Syndromic X-Linked Intellectual Disability 1

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IQSEC2 NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro) SNV Pathogenic 10863 rs267607187 X:53277960-53277960 X:53248778-53248778

Expression for Non-Syndromic X-Linked Intellectual Disability 1

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability 1.

Pathways for Non-Syndromic X-Linked Intellectual Disability 1

GO Terms for Non-Syndromic X-Linked Intellectual Disability 1

Sources for Non-Syndromic X-Linked Intellectual Disability 1

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....