MCID: MNT224
MIFTS: 17

Mental Retardation, X-Linked 101

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

Aliases & Classifications for Mental Retardation, X-Linked 101

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

Name: Mental Retardation, X-Linked 101 53 71 28 69
Mrx101 53 71

Characteristics:

OMIM:

53
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:



Summaries for Mental Retardation, X-Linked 101

UniProtKB/Swiss-Prot : 71 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, and has symptoms including seizures, intellectual disability and macrotia. An important gene associated with Mental Retardation, X-Linked 101 is MID2 (Midline 2).

Description from OMIM: 300928

Symptoms & Phenotypes for Mental Retardation, X-Linked 101

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 macrotia 31 occasional (7.5%) HP:0000400
4 global developmental delay 31 HP:0001263
5 strabismus 31 HP:0000486
6 absent speech 31 HP:0001344
7 long face 31 occasional (7.5%) HP:0000276
8 hyperactivity 31 HP:0000752
9 poor speech 31 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 28 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:

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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