MRX94
MCID: SYN170
MIFTS: 22

Syndromic X-Linked Intellectual Disability 94 (MRX94)

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

Aliases & Classifications for Syndromic X-Linked Intellectual Disability 94

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability 94:

Name: Syndromic X-Linked Intellectual Disability 94 12 15
Mental Retardation, X-Linked, Syndromic, Wu Type 29 6
Syndromic X-Linked Intellectual Disability Due to Gria3 Anomalies 12
Syndromic X-Linked Mental Retardation Wu Type 12
Syndromic X-Linked Mental Retardation 29 12
Mental Retardation, X-Linked 94 70
Mrxs29 12
Mrx94 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060823
ICD10 32 F72
UMLS 70 C2678051

Summaries for Syndromic X-Linked Intellectual Disability 94

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.

MalaCards based summary : Syndromic X-Linked Intellectual Disability 94, also known as mental retardation, x-linked, syndromic, wu type, is related to intellectual developmental disorder, x-linked, syndromic, wu type and episodic ataxia, and has symptoms including seizures and myoclonus. An important gene associated with Syndromic X-Linked Intellectual Disability 94 is GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3), and among its related pathways/superpathways is Dopamine-DARPP32 Feedback onto cAMP Pathway.

Related Diseases for Syndromic X-Linked Intellectual Disability 94

Diseases in the Syndromic X-Linked Intellectual Disability Type 10 family:

Syndromic X-Linked Intellectual Disability Syndromic X-Linked Intellectual Disability 12
Syndromic X-Linked Intellectual Disability 7 Syndromic X-Linked Intellectual Disability 14
Syndromic X-Linked Intellectual Disability 94

Diseases related to Syndromic X-Linked Intellectual Disability 94 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder, x-linked, syndromic, wu type 11.4
2 episodic ataxia 9.6 GRIA3 CACNA1E
3 46,xy sex reversal 9 9.5 SMAD9 CACNA1E

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability 94

UMLS symptoms related to Syndromic X-Linked Intellectual Disability 94:


seizures; myoclonus

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability 94

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability 94

Genetic Tests for Syndromic X-Linked Intellectual Disability 94

Genetic tests related to Syndromic X-Linked Intellectual Disability 94:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Wu Type 29 GRIA3

Anatomical Context for Syndromic X-Linked Intellectual Disability 94

Publications for Syndromic X-Linked Intellectual Disability 94

Articles related to Syndromic X-Linked Intellectual Disability 94:

# Title Authors PMID Year
1
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 6
24721225 2014
2
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. 6
17989220 2007

Variations for Syndromic X-Linked Intellectual Disability 94

ClinVar genetic disease variations for Syndromic X-Linked Intellectual Disability 94:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIA3 NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) SNV Pathogenic 431114 rs1135401788 GRCh37: X:122561878-122561878
GRCh38: X:123428027-123428027
2 GRIA3 NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg) SNV Pathogenic 127195 rs587777361 GRCh37: X:122561802-122561802
GRCh38: X:123427951-123427951
3 GRIA3 GRIA3, 0.4-MB DEL Deletion Pathogenic 10359 GRCh37:
GRCh38:
4 GRIA3 NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr) SNV Pathogenic 10358 rs137852352 GRCh37: X:122598756-122598756
GRCh38: X:123464905-123464905
5 GRIA3 NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) SNV Pathogenic 10357 rs137852351 GRCh37: X:122561805-122561805
GRCh38: X:123427954-123427954
6 GRIA3 NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) SNV Pathogenic 10356 rs137852350 GRCh37: X:122616707-122616707
GRCh38: X:123482856-123482856
7 GRIA3 NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) SNV Likely pathogenic 383739 rs1057521721 GRCh37: X:122561871-122561871
GRCh38: X:123428020-123428020
8 GRIA3 NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp) SNV Uncertain significance 1028873 GRCh37: X:122537286-122537286
GRCh38: X:123403435-123403435
9 GRIA3 NM_007325.5(GRIA3):c.69G>A (p.Leu23=) SNV Uncertain significance 1028874 GRCh37: X:122318456-122318456
GRCh38: X:123184604-123184604
10 GRIA3 NM_007325.5(GRIA3):c.268+16792G>A SNV Uncertain significance 1031666 GRCh37: X:122336633-122336633
GRCh38: X:123202782-123202782
11 GRIA3 NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg) SNV Uncertain significance 982834 GRCh37: X:122528880-122528880
GRCh38: X:123395029-123395029
12 GRIA3 NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) SNV Uncertain significance 560997 rs1569443329 GRCh37: X:122616657-122616657
GRCh38: X:123482806-123482806
13 GRIA3 NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) SNV Uncertain significance 561018 rs1569441235 GRCh37: X:122598755-122598755
GRCh38: X:123464904-123464904
14 GRIA3 NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) SNV Uncertain significance 561019 rs1569442989 GRCh37: X:122613997-122613997
GRCh38: X:123480146-123480146
15 GRIA3 NM_007325.5(GRIA3):c.813G>C (p.Gln271His) SNV Uncertain significance 638312 rs756316953 GRCh37: X:122528881-122528881
GRCh38: X:123395030-123395030
16 GRIA3 NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) SNV Uncertain significance 800848 rs866395967 GRCh37: X:122598828-122598828
GRCh38: X:123464977-123464977
17 GRIA3 NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) SNV Uncertain significance 426660 rs764670975 GRCh37: X:122459895-122459895
GRCh38: X:123326044-123326044
18 GRIA3 NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) SNV Likely benign 198752 rs138817389 GRCh37: X:122536945-122536945
GRCh38: X:123403094-123403094
19 GRIA3 NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg) SNV Likely benign 224120 rs189437004 GRCh37: X:122459948-122459948
GRCh38: X:123326097-123326097
20 GRIA3 NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) SNV Likely benign 224091 rs144902457 GRCh37: X:122387351-122387351
GRCh38: X:123253500-123253500
21 GRIA3 NM_007325.5(GRIA3):c.268+16762dup Duplication Benign 804081 rs11452643 GRCh37: X:122336600-122336601
GRCh38: X:123202748-123202749
22 GRIA3 NM_007325.5(GRIA3):c.268+16757dup Duplication Benign 218561 rs778944548 GRCh37: X:122336597-122336598
GRCh38: X:123202745-123202746

Expression for Syndromic X-Linked Intellectual Disability 94

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability 94.

Pathways for Syndromic X-Linked Intellectual Disability 94

Pathways related to Syndromic X-Linked Intellectual Disability 94 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.98 GRIA3 CACNA1E

GO Terms for Syndromic X-Linked Intellectual Disability 94

Molecular functions related to Syndromic X-Linked Intellectual Disability 94 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.62 GRIA3 CACNA1E

Sources for Syndromic X-Linked Intellectual Disability 94

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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