MCID: MNT274
MIFTS: 14

Mental Retardation, X-Linked 105

Categories: Genetic diseases, Neuronal diseases, Mental 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 75 6
Mrx105 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
mental retardation, x-linked 105:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300984
MeSH 44 D038901

Summaries for Mental Retardation, X-Linked 105

UniProtKB/Swiss-Prot : 75 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 behavioral abnormality and intellectual disability

Description from OMIM: 300984

Symptoms & Phenotypes for Mental Retardation, X-Linked 105

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
poor or absent speech

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems


Clinical features from OMIM:

300984

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

32
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 HP:0000708
2 intellectual disability 32 HP:0001249

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

Anatomical Context for Mental Retardation, X-Linked 105

Publications for Mental Retardation, X-Linked 105

Variations for Mental Retardation, X-Linked 105

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

75
# Symbol AA change Variation ID SNP ID
1 USP27X p.Tyr381His VAR_077830 rs886038211

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 USP27X NM_001145073.2(USP27X): c.1023_1027delAAGTA (p.Ser342Argfs) deletion Pathogenic rs886038210 GRCh38 Chromosome X, 49881330: 49881334
2 USP27X NM_001145073.2(USP27X): c.1023_1027delAAGTA (p.Ser342Argfs) deletion Pathogenic rs886038210 GRCh37 Chromosome X, 49645933: 49645937
3 USP27X NM_001145073.2(USP27X): c.1141T> C (p.Tyr381His) single nucleotide variant Pathogenic rs886038211 GRCh38 Chromosome X, 49881448: 49881448
4 USP27X NM_001145073.2(USP27X): c.1141T> C (p.Tyr381His) single nucleotide variant Pathogenic rs886038211 GRCh37 Chromosome X, 49646051: 49646051

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 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
Content
Loading form....