MCID: MNT258
MIFTS: 23

Mental Retardation, X-Linked, Syndromic, Wu Type

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Wu Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Wu Type:

Name: Mental Retardation, X-Linked, Syndromic, Wu Type 57 29 6
Mrx94 57 12 75
Mental Retardation, X-Linked 94 75 73
Mrxs29 57 12
Syndromic X-Linked Intellectual Disability Due to Gria3 Anomalies 12
X-Linked Intellectual Disability Due to Gria3 Anomalies 59
Mental Retardation, X-Linked, Syndromic 29; Mrxs29 57
Syndromic X-Linked Intellectual Disability 94 12
Syndromic X-Linked Mental Retardation Wu Type 12
Mental Retardation, X-Linked, Syndromic 29 57
Syndromic X-Linked Mental Retardation 29 12
Mental Retardation, X-Linked 94; Mrx94 57
Mrxsw 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable features


HPO:

32
mental retardation, x-linked, syndromic, wu type:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, Wu Type

UniProtKB/Swiss-Prot : 75 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 : Mental Retardation, X-Linked, Syndromic, Wu Type, is also known as mrx94, and has symptoms including myoclonus and seizures. An important gene associated with Mental Retardation, X-Linked, Syndromic, Wu Type is GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3). Affiliated tissues include eye, and related phenotypes are brachycephaly and macrocephaly

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.

Description from OMIM: 300699

Related Diseases for Mental Retardation, X-Linked, Syndromic, Wu Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Wu Type

Symptoms via clinical synopsis from OMIM:

57
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

Head And Neck Face:
dysmorphic features

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

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
autistic features
aggression
self-injury

Growth Other:
asthenic body habitus


Clinical features from OMIM:

300699

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Wu Type:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 32 HP:0000248
2 macrocephaly 32 very rare (1%) HP:0000256
3 prominent supraorbital ridges 32 HP:0000336
4 deeply set eye 32 HP:0000490
5 autism 32 very rare (1%) HP:0000717
6 aggressive behavior 32 HP:0000718
7 intellectual disability 32 HP:0001249
8 seizures 32 very rare (1%) HP:0001250
9 hyporeflexia 32 very rare (1%) HP:0001265
10 myoclonus 32 very rare (1%) HP:0001336
11 slender build 32 very rare (1%) HP:0001533
12 distal muscle weakness 32 very rare (1%) HP:0002460
13 short stature 32 HP:0004322
14 intellectual disability, severe 32 HP:0010864

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Wu Type:


myoclonus, seizures

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Wu Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Wu Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Wu Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Wu Type:

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

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Wu Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Wu Type:

41
Eye

Publications for Mental Retardation, X-Linked, Syndromic, Wu Type

Variations for Mental Retardation, X-Linked, Syndromic, Wu Type

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Wu Type:

75
# 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

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Wu Type:

6
(show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIA3 NM_007325.4(GRIA3): c.2497G> A (p.Gly833Arg) single nucleotide variant Pathogenic rs137852350 GRCh37 Chromosome X, 122616707: 122616707
2 GRIA3 NM_007325.4(GRIA3): c.2497G> A (p.Gly833Arg) single nucleotide variant Pathogenic rs137852350 GRCh38 Chromosome X, 123482856: 123482856
3 GRIA3 NM_007325.4(GRIA3): c.1891C> A (p.Arg631Ser) single nucleotide variant Pathogenic rs137852351 GRCh37 Chromosome X, 122561805: 122561805
4 GRIA3 NM_007325.4(GRIA3): c.1891C> A (p.Arg631Ser) single nucleotide variant Pathogenic rs137852351 GRCh38 Chromosome X, 123427954: 123427954
5 GRIA3 NM_007325.4(GRIA3): c.2117T> C (p.Met706Thr) single nucleotide variant Pathogenic rs137852352 GRCh37 Chromosome X, 122598756: 122598756
6 GRIA3 NM_007325.4(GRIA3): c.2117T> C (p.Met706Thr) single nucleotide variant Pathogenic rs137852352 GRCh38 Chromosome X, 123464905: 123464905
7 GRIA3 GRIA3, 0.4-MB DEL deletion Pathogenic
8 GRIA3 NM_007325.4(GRIA3): c.1888G> C (p.Gly630Arg) single nucleotide variant Pathogenic rs587777361 GRCh37 Chromosome X, 122561802: 122561802
9 GRIA3 NM_007325.4(GRIA3): c.1888G> C (p.Gly630Arg) single nucleotide variant Pathogenic rs587777361 GRCh38 Chromosome X, 123427951: 123427951
10 GRIA3 NM_007325.4(GRIA3): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs139990565 GRCh37 Chromosome X, 122460014: 122460014
11 GRIA3 NM_007325.4(GRIA3): c.646C> T (p.Arg216Ter) single nucleotide variant Likely pathogenic rs139990565 GRCh38 Chromosome X, 123326163: 123326163
12 GRIA3 NM_001256743.1(GRIA3): c.380dupG (p.Gly128Trpfs) duplication Benign rs778944548 GRCh38 Chromosome X, 123202747: 123202747
13 GRIA3 NM_001256743.1(GRIA3): c.380dupG (p.Gly128Trpfs) duplication Benign rs778944548 GRCh37 Chromosome X, 122336599: 122336599
14 GRIA3 NM_007325.4(GRIA3): c.466T> C (p.Tyr156His) single nucleotide variant Likely benign rs144902457 GRCh37 Chromosome X, 122387351: 122387351
15 GRIA3 NM_007325.4(GRIA3): c.466T> C (p.Tyr156His) single nucleotide variant Likely benign rs144902457 GRCh38 Chromosome X, 123253500: 123253500
16 GRIA3 NM_007325.4(GRIA3): c.580G> A (p.Gly194Arg) single nucleotide variant Likely benign rs189437004 GRCh37 Chromosome X, 122459948: 122459948
17 GRIA3 NM_007325.4(GRIA3): c.580G> A (p.Gly194Arg) single nucleotide variant Likely benign rs189437004 GRCh38 Chromosome X, 123326097: 123326097
18 GRIA3 NM_007325.4(GRIA3): c.1964T> C (p.Phe655Ser) single nucleotide variant Pathogenic rs1135401788 GRCh38 Chromosome X, 123428027: 123428027
19 GRIA3 NM_007325.4(GRIA3): c.1964T> C (p.Phe655Ser) single nucleotide variant Pathogenic rs1135401788 GRCh37 Chromosome X, 122561878: 122561878

Expression for Mental Retardation, X-Linked, Syndromic, Wu Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Wu Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Wu Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Wu Type

Sources for Mental Retardation, X-Linked, Syndromic, Wu Type

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