MCID: MNT304
MIFTS: 20

Mental Retardation, X-Linked, with or Without Seizures, Arx-Related

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Mental Retardation, X-Linked, with or Without Seizures,...

MalaCards integrated aliases for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

Name: Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 57 73
Mental Retardation, with or Without Seizures, Arx-Related, X-Linked 29 6
Mental Retardation, X-Linked 29 and Others 57 13
Mrxarx 57 75
Mrx29 57 75
Mrx32 57 75
Mrx33 57 75
Mrx38 57 75
Mrx43 57 75
Mrx54 57 75
Mrx76 57 75
Mrx87 57 75
Mental Retardation X-Linked with or Without Seizures Arx-Related 75
Mental Retardation, X-Linked, Type 29 and Others 40
Mental Retardation, X-Linked, Arx-Related 75
Mental Retardation, X-Linked 29; Mrx29 57
Mental Retardation, X-Linked 32; Mrx32 57
Mental Retardation, X-Linked 33; Mrx33 57
Mental Retardation, X-Linked 38; Mrx38 57
Mental Retardation, X-Linked 43; Mrx43 57
Mental Retardation, X-Linked 54; Mrx54 57
Mental Retardation, X-Linked 76; Mrx76 57
Mental Retardation, X-Linked 87; Mrx87 57
Mental Retardation, X-Linked 29 57
Mental Retardation, X-Linked 32 57
Mental Retardation, X-Linked 33 57
Mental Retardation, X-Linked 38 57
Mental Retardation, X-Linked 43 57
Mental Retardation, X-Linked 76 57
Mental Retardation, X-Linked 87 57
Mental Retardation, X-Linked-29 13
Mental Retardation X-Linked 29 75
Mental Retardation X-Linked 32 75
Mental Retardation X-Linked 33 75
Mental Retardation X-Linked 38 75
Mental Retardation X-Linked 43 75
Mental Retardation X-Linked 76 75
Mental Retardation X-Linked 87 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked, with or without seizures, arx-related:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, with or Without Seizures,...

OMIM : 57 ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). (300419)

MalaCards based summary : Mental Retardation, X-Linked, with or Without Seizures, Arx-Related, is also known as mental retardation, with or without seizures, arx-related, x-linked. An important gene associated with Mental Retardation, X-Linked, with or Without Seizures, Arx-Related is ARX (Aristaless Related Homeobox). Affiliated tissues include brain, and related phenotypes are periorbital fullness and long palpebral fissure

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, ARX-related: 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.

Related Diseases for Mental Retardation, X-Linked, with or Without Seizures,...

Symptoms & Phenotypes for Mental Retardation, X-Linked, with or Without Seizures,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
periorbital fullness (in some patients)
wide palpebral fissures (in some patients)

Neurologic Central Nervous System:
mental retardation, mild to severe (iq 21-67 for those reported)
seizures (in some patients)


Clinical features from OMIM:

300419

Human phenotypes related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

32
# Description HPO Frequency HPO Source Accession
1 periorbital fullness 32 occasional (7.5%) HP:0000629
2 long palpebral fissure 32 occasional (7.5%) HP:0000637
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250

Drugs & Therapeutics for Mental Retardation, X-Linked, with or Without Seizures,...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related

Genetic Tests for Mental Retardation, X-Linked, with or Without Seizures,...

Genetic tests related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

# Genetic test Affiliating Genes
1 Mental Retardation, with or Without Seizures, Arx-Related, X-Linked 29 ARX

Anatomical Context for Mental Retardation, X-Linked, with or Without Seizures,...

MalaCards organs/tissues related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

41
Brain

Publications for Mental Retardation, X-Linked, with or Without Seizures,...

Variations for Mental Retardation, X-Linked, with or Without Seizures,...

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

75
# Symbol AA change Variation ID SNP ID
1 ARX p.Leu33Pro VAR_015669 rs28936077
2 ARX p.Gly286Ser VAR_015671 rs28935479

ClinVar genetic disease variations for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

6
(show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh37 Chromosome X, 25031779: 25031781
2 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh38 Chromosome X, 25013662: 25013664
3 ARX NM_139058.2(ARX): c.98T> C (p.Leu33Pro) single nucleotide variant Pathogenic rs28936077 GRCh37 Chromosome X, 25033757: 25033757
4 ARX NM_139058.2(ARX): c.98T> C (p.Leu33Pro) single nucleotide variant Pathogenic rs28936077 GRCh38 Chromosome X, 25015640: 25015640
5 ARX NM_139058.2(ARX): c.856G> A (p.Gly286Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28935479 GRCh37 Chromosome X, 25031256: 25031256
6 ARX NM_139058.2(ARX): c.856G> A (p.Gly286Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28935479 GRCh38 Chromosome X, 25013139: 25013139
7 ARX NM_139058.2(ARX) duplication Pathogenic rs398124511 GRCh37 Chromosome X, 25031648: 25031671
8 ARX NM_139058.2(ARX) duplication Pathogenic rs398124511 GRCh38 Chromosome X, 25013531: 25013554
9 ARX NM_139058.2(ARX): c.802G> T (p.Val268Leu) single nucleotide variant Benign rs587783141 GRCh38 Chromosome X, 25013193: 25013193
10 ARX NM_139058.2(ARX): c.802G> T (p.Val268Leu) single nucleotide variant Benign rs587783141 GRCh37 Chromosome X, 25031310: 25031310
11 ARX NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla) duplication Conflicting interpretations of pathogenicity rs398124508 GRCh38 Chromosome X, 25007239: 25007241
12 ARX NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla) duplication Conflicting interpretations of pathogenicity rs398124508 GRCh37 Chromosome X, 25025356: 25025358
13 ARX NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del) deletion Benign/Likely benign rs587783197 GRCh37 Chromosome X, 25031777: 25031782
14 ARX NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del) deletion Benign/Likely benign rs587783197 GRCh38 Chromosome X, 25013660: 25013665
15 ARX NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla) duplication Conflicting interpretations of pathogenicity rs587783198 GRCh38 Chromosome X, 25013660: 25013662
16 ARX NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla) duplication Conflicting interpretations of pathogenicity rs587783198 GRCh37 Chromosome X, 25031777: 25031779
17 ARX NM_139058.2(ARX): c.454G> A (p.Ala152Thr) single nucleotide variant Uncertain significance rs587783201 GRCh37 Chromosome X, 25031658: 25031658
18 ARX NM_139058.2(ARX): c.454G> A (p.Ala152Thr) single nucleotide variant Uncertain significance rs587783201 GRCh38 Chromosome X, 25013541: 25013541
19 ARX NM_139058.2(ARX): c.1269C> T (p.His423=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727656 GRCh37 Chromosome X, 25025407: 25025407
20 ARX NM_139058.2(ARX): c.1269C> T (p.His423=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727656 GRCh38 Chromosome X, 25007290: 25007290
21 ARX NM_139058.2(ARX): c.441A> G (p.Ala147=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045301 GRCh37 Chromosome X, 25031671: 25031671
22 ARX NM_139058.2(ARX): c.441A> G (p.Ala147=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045301 GRCh38 Chromosome X, 25013554: 25013554
23 ARX NM_139058.2(ARX): c.166A> G (p.Ser56Gly) single nucleotide variant Likely benign rs144098296 GRCh37 Chromosome X, 25033689: 25033689
24 ARX NM_139058.2(ARX): c.166A> G (p.Ser56Gly) single nucleotide variant Likely benign rs144098296 GRCh38 Chromosome X, 25015572: 25015572
25 ARX NM_139058.2(ARX): c.776T> C (p.Leu259Pro) single nucleotide variant Uncertain significance rs774291500 GRCh37 Chromosome X, 25031336: 25031336
26 ARX NM_139058.2(ARX): c.776T> C (p.Leu259Pro) single nucleotide variant Uncertain significance rs774291500 GRCh38 Chromosome X, 25013219: 25013219
27 ARX NM_139058.2(ARX): c.453G> C (p.Ala151=) single nucleotide variant Likely benign rs878855205 GRCh37 Chromosome X, 25031659: 25031659
28 ARX NM_139058.2(ARX): c.453G> C (p.Ala151=) single nucleotide variant Likely benign rs878855205 GRCh38 Chromosome X, 25013542: 25013542
29 ARX NM_139058.2(ARX): c.148T> C (p.Leu50=) single nucleotide variant Benign/Likely benign rs370342380 GRCh38 Chromosome X, 25015590: 25015590
30 ARX NM_139058.2(ARX): c.148T> C (p.Leu50=) single nucleotide variant Benign/Likely benign rs370342380 GRCh37 Chromosome X, 25033707: 25033707
31 ARX NM_139058.2(ARX): c.447G> C (p.Ala149=) single nucleotide variant Conflicting interpretations of pathogenicity rs745705522 GRCh37 Chromosome X, 25031665: 25031665
32 ARX NM_139058.2(ARX): c.447G> C (p.Ala149=) single nucleotide variant Conflicting interpretations of pathogenicity rs745705522 GRCh38 Chromosome X, 25013548: 25013548
33 ARX NM_139058.2(ARX): c.223T> G (p.Phe75Val) single nucleotide variant Uncertain significance rs999545482 GRCh37 Chromosome X, 25031889: 25031889
34 ARX NM_139058.2(ARX): c.223T> G (p.Phe75Val) single nucleotide variant Uncertain significance rs999545482 GRCh38 Chromosome X, 25013772: 25013772
35 ARX NM_139058.2(ARX): c.1119+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201300786 GRCh37 Chromosome X, 25028371: 25028371
36 ARX NM_139058.2(ARX): c.1119+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201300786 GRCh38 Chromosome X, 25010254: 25010254
37 ARX NM_139058.2(ARX): c.558G> T (p.Pro186=) single nucleotide variant Likely benign rs748764628 GRCh37 Chromosome X, 25031554: 25031554
38 ARX NM_139058.2(ARX): c.558G> T (p.Pro186=) single nucleotide variant Likely benign rs748764628 GRCh38 Chromosome X, 25013437: 25013437
39 ARX NM_139058.2(ARX): c.1059G> A (p.Pro353=) single nucleotide variant Likely benign rs1060504804 GRCh37 Chromosome X, 25031053: 25031053
40 ARX NM_139058.2(ARX): c.1059G> A (p.Pro353=) single nucleotide variant Likely benign rs1060504804 GRCh38 Chromosome X, 25012936: 25012936
41 ARX NM_139058.2(ARX): c.333_335delGGC (p.Ala115del) deletion Benign/Likely benign rs1060504803 GRCh37 Chromosome X, 25031777: 25031779
42 ARX NM_139058.2(ARX): c.333_335delGGC (p.Ala115del) deletion Benign/Likely benign rs1060504803 GRCh38 Chromosome X, 25013660: 25013662
43 ARX NM_139058.2(ARX): c.921C> A (p.Gly307=) single nucleotide variant Likely benign rs398124519 GRCh37 Chromosome X, 25031191: 25031191
44 ARX NM_139058.2(ARX): c.921C> A (p.Gly307=) single nucleotide variant Likely benign rs398124519 GRCh38 Chromosome X, 25013074: 25013074
45 ARX NM_139058.2(ARX): c.855G> A (p.Glu285=) single nucleotide variant Likely benign rs139301257 GRCh37 Chromosome X, 25031257: 25031257
46 ARX NM_139058.2(ARX): c.855G> A (p.Glu285=) single nucleotide variant Likely benign rs139301257 GRCh38 Chromosome X, 25013140: 25013140
47 ARX NM_139058.2(ARX): c.825C> T (p.Ala275=) single nucleotide variant Likely benign rs922800521 GRCh37 Chromosome X, 25031287: 25031287
48 ARX NM_139058.2(ARX): c.825C> T (p.Ala275=) single nucleotide variant Likely benign rs922800521 GRCh38 Chromosome X, 25013170: 25013170
49 ARX NM_139058.2(ARX): c.1318_1320delGCC (p.Ala440del) deletion Uncertain significance rs765792487 GRCh38 Chromosome X, 25007239: 25007241
50 ARX NM_139058.2(ARX): c.1318_1320delGCC (p.Ala440del) deletion Uncertain significance rs765792487 GRCh37 Chromosome X, 25025356: 25025358

Expression for Mental Retardation, X-Linked, with or Without Seizures,...

Search GEO for disease gene expression data for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related.

Pathways for Mental Retardation, X-Linked, with or Without Seizures,...

GO Terms for Mental Retardation, X-Linked, with or Without Seizures,...

Sources for Mental Retardation, X-Linked, with or Without Seizures,...

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