MRX41
MCID: NNS093
MIFTS: 13

Non-Syndromic X-Linked Intellectual Disability 41 (MRX41)

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

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 41

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 41:

Name: Non-Syndromic X-Linked Intellectual Disability 41 12
Mental Retardation, X-Linked 48 6
X-Linked Mental Retardation 48 12
Mrx41 12
Mrx48 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112058

Summaries for Non-Syndromic X-Linked Intellectual Disability 41

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has material basis in heterozygous mutation in GDI1 on chromosome Xq28.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability 41, also known as mental retardation, x-linked 48, is related to non-syndromic x-linked intellectual disability. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 41 is GDI1 (GDP Dissociation Inhibitor 1).

Related Diseases for Non-Syndromic X-Linked Intellectual Disability 41

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 41

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 41

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability 41

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 41

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 41

Publications for Non-Syndromic X-Linked Intellectual Disability 41

Articles related to Non-Syndromic X-Linked Intellectual Disability 41:

# Title Authors PMID Year
1
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. 61 6
9668174 1998
2
A gene for dominant nonspecific X-linked mental retardation is located in Xq28. 61 6
9106537 1997
3
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. 6
22002931 2011
4
Mutations in GDI1 are responsible for X-linked non-specific mental retardation. 6
9620768 1998
5
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. 6
8826463 1996
6
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. 61
10232754 1999

Variations for Non-Syndromic X-Linked Intellectual Disability 41

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 41:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDI1 NM_001493.3(GDI1):c.275T>C (p.Leu92Pro) SNV Pathogenic 11626 rs121434607 X:153667373-153667373 X:154439027-154439027
2 GDI1 NM_001493.3(GDI1):c.208C>T (p.Arg70Ter) SNV Pathogenic 11627 rs121434608 X:153667165-153667165 X:154438819-154438819
3 GDI1 NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro) SNV Pathogenic 11628 rs121434609 X:153670943-153670943 X:154442596-154442596
4 GDI1 NM_001493.3(GDI1):c.1184_1185AG[1] (p.Ser396fs) Microsatellite Pathogenic 29933 rs398122814 X:153670767-153670768 X:154442420-154442421
5 GDI1 NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs) Deletion Pathogenic 975399 X:153670525-153670529 X:154442178-154442182
6 GDI1 NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer) Insertion Pathogenic 976430 X:153670753-153670754 X:154442406-154442407
7 GDI1 NM_001493.3(GDI1):c.788del (p.Gly263fs) Deletion Likely pathogenic 976035 X:153669510-153669510 X:154441163-154441163
8 GDI1 NM_001493.3(GDI1):c.1283C>T (p.Ala428Val) SNV Uncertain significance 423705 rs1064796588 X:153670958-153670958 X:154442611-154442611

Expression for Non-Syndromic X-Linked Intellectual Disability 41

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability 41.

Pathways for Non-Syndromic X-Linked Intellectual Disability 41

GO Terms for Non-Syndromic X-Linked Intellectual Disability 41

Sources for Non-Syndromic X-Linked Intellectual Disability 41

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
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