MRX101
MCID: MNT224
MIFTS: 24

Mental Retardation, X-Linked 101 (MRX101)

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

Aliases & Classifications for Mental Retardation, X-Linked 101

MalaCards integrated aliases for Mental Retardation, X-Linked 101:

Name: Mental Retardation, X-Linked 101 57 72 29 6 70
Mrx101 57 12 72
Non-Syndromic X-Linked Intellectual Disability 101 12
Mental Retardation, X-Linked, Type 101 39
X-Linked Mental Retardation 101 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset at birth
one family from punjab, india has been reported (last curated august 2014)

Inheritance:
x-linked recessive


HPO:

31
mental retardation, x-linked 101:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112048
OMIM® 57 300928
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901
UMLS 70 C3890168

Summaries for Mental Retardation, X-Linked 101

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked 101: 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. MRX101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus.

MalaCards based summary : Mental Retardation, X-Linked 101, also known as mrx101, is related to non-syndromic x-linked intellectual disability. An important gene associated with Mental Retardation, X-Linked 101 is MID2 (Midline 2). Related phenotypes are macrotia and long face

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by global developmental delay that has material basis in hemizygous mutation in MID2 on chromosome Xq22.3.

More information from OMIM: 300928 PS309530

Related Diseases for Mental Retardation, X-Linked 101

Symptoms & Phenotypes for Mental Retardation, X-Linked 101

Human phenotypes related to Mental Retardation, X-Linked 101:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macrotia 31 occasional (7.5%) HP:0000400
2 long face 31 occasional (7.5%) HP:0000276
3 seizure 31 occasional (7.5%) HP:0001250
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 strabismus 31 HP:0000486
7 absent speech 31 HP:0001344
8 hyperactivity 31 HP:0000752
9 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
poor speech
mental retardation
seizures (in some patients)
lack of speech
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive outbursts

Head And Neck Ears:
large ears (in some patients)

Head And Neck Eyes:
strabismus
squint

Head And Neck Face:
long face (in some patients)

Clinical features from OMIM®:

300928 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Mental Retardation, X-Linked 101 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in HCT116 cells GR00103-A-0 8.32 USP9X

Drugs & Therapeutics for Mental Retardation, X-Linked 101

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 101

Genetic Tests for Mental Retardation, X-Linked 101

Genetic tests related to Mental Retardation, X-Linked 101:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 101 29 MID2

Anatomical Context for Mental Retardation, X-Linked 101

Publications for Mental Retardation, X-Linked 101

Articles related to Mental Retardation, X-Linked 101:

# Title Authors PMID Year
1
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. 6 57
24115387 2014

Variations for Mental Retardation, X-Linked 101

ClinVar genetic disease variations for Mental Retardation, X-Linked 101:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MID2 , LOC101928335 NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) SNV Pathogenic 143857 rs587777605 GRCh37: X:107148823-107148823
GRCh38: X:107905593-107905593
2 MID2 , LOC101928335 NM_012216.4(MID2):c.1447del (p.Ser483fs) Deletion Pathogenic 818208 rs1602511836 GRCh37: X:107167583-107167583
GRCh38: X:107924353-107924353
3 MID2 , LOC101928335 NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) SNV Likely pathogenic 800883 rs750972972 GRCh37: X:107167695-107167695
GRCh38: X:107924465-107924465
4 MID2 , LOC101928335 NM_012216.4(MID2):c.2070del (p.Phe691fs) Deletion Likely pathogenic 1047926 GRCh37: X:107170165-107170165
GRCh38: X:107926935-107926935
5 USP9X NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu) SNV Uncertain significance 988733 GRCh37: X:41043780-41043780
GRCh38: X:41184527-41184527
6 MID2 NM_012216.4(MID2):c.448G>T (p.Ala150Ser) SNV Uncertain significance 224103 rs375785745 GRCh37: X:107084343-107084343
GRCh38: X:107841113-107841113
7 MID2 NM_012216.4(MID2):c.491G>A (p.Arg164His) SNV Uncertain significance 548625 rs778859599 GRCh37: X:107084386-107084386
GRCh38: X:107841156-107841156

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 101:

72
# Symbol AA change Variation ID SNP ID
1 MID2 p.Arg347Gln VAR_071836 rs587777605

Expression for Mental Retardation, X-Linked 101

Search GEO for disease gene expression data for Mental Retardation, X-Linked 101.

Pathways for Mental Retardation, X-Linked 101

GO Terms for Mental Retardation, X-Linked 101

Biological processes related to Mental Retardation, X-Linked 101 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 8.62 USP9X MID2

Sources for Mental Retardation, X-Linked 101

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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