MRX105
MCID: MNT274
MIFTS: 18

Mental Retardation, X-Linked 105 (MRX105)

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

Aliases & Classifications for Mental Retardation, X-Linked 105

MalaCards integrated aliases for Mental Retardation, X-Linked 105:

Name: Mental Retardation, X-Linked 105 57 72 29 6
Mrx105 57 12 72
Non-Syndromic X-Linked Intellectual Disability 105 12
Mental Retardation, X-Linked, Type 105 39
X-Linked Mental Retardation 105 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
two unrelated families have been reported (last curated september 2016)


HPO:

31
mental retardation, x-linked 105:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112036
OMIM® 57 300984
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901

Summaries for Mental Retardation, X-Linked 105

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked 105: A form of mental retardation, 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.

MalaCards based summary : Mental Retardation, X-Linked 105, is also known as mrx105. An important gene associated with Mental Retardation, X-Linked 105 is USP27X (Ubiquitin Specific Peptidase 27 X-Linked). Related phenotypes are intellectual disability and behavioral abnormality

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has material basis in hemizygous mutation in USP27X on chromosome Xp11.23.

More information from OMIM: 300984 PS309530

Symptoms & Phenotypes for Mental Retardation, X-Linked 105

Human phenotypes related to Mental Retardation, X-Linked 105:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 behavioral abnormality 31 HP:0000708
3 absent speech 31 HP:0001344

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
poor or absent speech

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems

Clinical features from OMIM®:

300984 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked 105

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 105

Genetic Tests for Mental Retardation, X-Linked 105

Genetic tests related to Mental Retardation, X-Linked 105:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 105 29 USP27X

Anatomical Context for Mental Retardation, X-Linked 105

Publications for Mental Retardation, X-Linked 105

Articles related to Mental Retardation, X-Linked 105:

# Title Authors PMID Year
1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6 57
25644381 2016

Variations for Mental Retardation, X-Linked 105

ClinVar genetic disease variations for Mental Retardation, X-Linked 105:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USP27X NM_001145073.3(USP27X):c.1026_1030del (p.Ser342fs) Deletion Pathogenic 254684 rs886038210 GRCh37: X:49645933-49645937
GRCh38: X:49881330-49881334
2 USP27X NM_001145073.3(USP27X):c.1141T>C (p.Tyr381His) SNV Pathogenic 254685 rs886038211 GRCh37: X:49646051-49646051
GRCh38: X:49881448-49881448
3 USP27X NM_001145073.3(USP27X):c.719_721del (p.Phe240del) Deletion Uncertain significance 931735 GRCh37: X:49645627-49645629
GRCh38: X:49881024-49881026
4 USP27X NM_001145073.3(USP27X):c.1157G>A (p.Arg386Gln) SNV Uncertain significance 1031163 GRCh37: X:49646067-49646067
GRCh38: X:49881464-49881464
5 USP27X NM_001145073.3(USP27X):c.94G>A (p.Glu32Lys) SNV Uncertain significance 1031164 GRCh37: X:49645004-49645004
GRCh38: X:49880401-49880401

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 105:

72
# Symbol AA change Variation ID SNP ID
1 USP27X p.Tyr381His VAR_077830 rs886038211

Expression for Mental Retardation, X-Linked 105

Search GEO for disease gene expression data for Mental Retardation, X-Linked 105.

Pathways for Mental Retardation, X-Linked 105

GO Terms for Mental Retardation, X-Linked 105

Sources for Mental Retardation, X-Linked 105

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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