MRXSW
MCID: INT384
MIFTS: 27

Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type (MRXSW)

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

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type:

Name: Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type 57
Mental Retardation, X-Linked, Syndromic 29 57 6
Mental Retardation, X-Linked 94 73 13
Mrx94 57 73
X-Linked Intellectual Disability Due to Gria3 Mutations 58
Mental Retardation, X-Linked, Syndromic 29; Mrxs29 57
Mental Retardation, X-Linked 94; Mrx94 57
Mrxs29 57
Mrxsw 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
variable features

Inheritance:
x-linked recessive


HPO:

31
intellectual developmental disorder, x-linked, syndromic, wu type:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked 94: 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. MRX94 patients have moderate mental retardation. Other variable features are macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia.

MalaCards based summary : Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type, also known as mental retardation, x-linked, syndromic 29, is related to syndromic x-linked intellectual disability 94. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type is GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3). Affiliated tissues include eye, and related phenotypes are global developmental delay and specific learning disability

More information from OMIM: 300699 PS309510 PS309530

Related Diseases for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

Diseases related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability 94 11.0

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

Human phenotypes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
3 slender build 58 31 very rare (1%) Frequent (79-30%) HP:0001533
4 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
5 macrocephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000256
6 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
7 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
8 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
9 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
10 narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000189
11 prominent supraorbital ridges 58 31 very rare (1%) Occasional (29-5%) HP:0000336
12 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
13 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
14 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
15 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
16 short stature 58 31 very rare (1%) Occasional (29-5%) HP:0004322
17 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
18 brachycephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000248
19 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
20 myoclonus 58 31 very rare (1%) Occasional (29-5%) HP:0001336
21 genu recurvatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002816
22 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
24 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
25 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
26 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
27 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
28 deeply set eye 58 31 very rare (1%) Occasional (29-5%) HP:0000490
29 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
30 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
31 hyporeflexia 58 31 very rare (1%) Occasional (29-5%) HP:0001265
32 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
33 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
34 poor eye contact 58 31 occasional (7.5%) Occasional (29-5%) HP:0000817
35 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
36 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
37 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
38 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
39 distal muscle weakness 58 31 very rare (1%) Occasional (29-5%) HP:0002460
40 self-mutilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000742
41 pain insensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007021
42 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
43 eversion of lateral third of lower eyelids 58 31 occasional (7.5%) Occasional (29-5%) HP:0007655
44 uplifted earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0009909
45 retrocerebellar cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0006951
46 facial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000297
47 short upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000188
48 severe expressive language delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0006863
49 sleep-wake cycle disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006979
50 macrodontia of permanent maxillary central incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000675

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
brachycephaly

Head And Neck Eyes:
prominent supraorbital ridges
deep-set eyes

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
poor muscle bulk

Growth Other:
asthenic body habitus

Neurologic Central Nervous System:
seizures
mental retardation, severe
myoclonic jerks

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
autistic features
aggression
self-injury

Head And Neck Face:
dysmorphic features

Clinical features from OMIM®:

300699 (Updated 05-Mar-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type

Genetic Tests for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

Anatomical Context for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

MalaCards organs/tissues related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type:

40
Eye

Publications for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

Articles related to Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type:

# Title Authors PMID Year
1
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 6 57
24721225 2014
2
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. 57 6
17989220 2007
3
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability. 57
22124977 2012
4
Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. 57
19449417 2009
5
Partial tandem duplication of GRIA3 in a male with mental retardation. 57
17568425 2007
6
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. 57
10644433 1999

Variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type:

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

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type:

73
# Symbol AA change Variation ID SNP ID
1 GRIA3 p.Arg450Gln VAR_043484 rs368568228
2 GRIA3 p.Arg631Ser VAR_043485 rs137852351
3 GRIA3 p.Met706Thr VAR_043486 rs137852352
4 GRIA3 p.Gly833Arg VAR_043487 rs137852350

Expression for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type.

Pathways for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

GO Terms for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

Sources for Intellectual Developmental Disorder, X-Linked, Syndromic, Wu...

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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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