MCID: MNT224
MIFTS: 19

Mental Retardation, X-Linked 101

Categories: Genetic diseases, Neuronal diseases, Mental 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 75 29 6 73
Mrx101 57 75
Mental Retardation, X-Linked, Type 101 40

Characteristics:

OMIM:

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

Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked 101:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 101

UniProtKB/Swiss-Prot : 75 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, is also known as mrx101. An important gene associated with Mental Retardation, X-Linked 101 is MID2 (Midline 2). Related phenotypes are intellectual disability and seizures

Description from OMIM: 300928

Symptoms & Phenotypes for Mental Retardation, X-Linked 101

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 macrotia 32 occasional (7.5%) HP:0000400
4 global developmental delay 32 HP:0001263
5 strabismus 32 HP:0000486
6 absent speech 32 HP:0001344
7 long face 32 occasional (7.5%) HP:0000276
8 hyperactivity 32 HP:0000752
9 poor speech 32 HP:0002465

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

Variations for Mental Retardation, X-Linked 101

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

75
# Symbol AA change Variation ID SNP ID
1 MID2 p.Arg347Gln VAR_071836 rs587777605

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MID2 NM_012216.3(MID2): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs587777605 GRCh37 Chromosome X, 107148823: 107148823
2 MID2 NM_012216.3(MID2): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs587777605 GRCh38 Chromosome X, 107905593: 107905593
3 MID2 NM_012216.3(MID2): c.448G> T (p.Ala150Ser) single nucleotide variant Uncertain significance rs375785745 GRCh37 Chromosome X, 107084343: 107084343
4 MID2 NM_012216.3(MID2): c.448G> T (p.Ala150Ser) single nucleotide variant Uncertain significance rs375785745 GRCh38 Chromosome X, 107841113: 107841113

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

Sources for Mental Retardation, X-Linked 101

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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