MRX96
MCID: MNT195
MIFTS: 15

Mental Retardation, X-Linked 96 (MRX96)

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

Aliases & Classifications for Mental Retardation, X-Linked 96

MalaCards integrated aliases for Mental Retardation, X-Linked 96:

Name: Mental Retardation, X-Linked 96 58 76 30 13 6 74
Mrx96 58 76
Mental Retardation, X-Linked, Type 96 41

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
mental retardation, x-linked 96:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 96

UniProtKB/Swiss-Prot : 76 Mental retardation, X-linked 96: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked 96, is also known as mrx96. An important gene associated with Mental Retardation, X-Linked 96 is SYP (Synaptophysin). Related phenotypes are seizures and intellectual disability

Description from OMIM: 300802

Symptoms & Phenotypes for Mental Retardation, X-Linked 96

Human phenotypes related to Mental Retardation, X-Linked 96:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 intellectual disability 33 HP:0001249

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
mental retardation, mild to moderate
epilepsy (in some patients)

Clinical features from OMIM:

300802

Drugs & Therapeutics for Mental Retardation, X-Linked 96

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 96

Genetic Tests for Mental Retardation, X-Linked 96

Genetic tests related to Mental Retardation, X-Linked 96:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 96 30 SYP

Anatomical Context for Mental Retardation, X-Linked 96

Publications for Mental Retardation, X-Linked 96

Variations for Mental Retardation, X-Linked 96

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 96:

76
# Symbol AA change Variation ID SNP ID
1 SYP p.Gly217Arg VAR_062986 rs137852561

ClinVar genetic disease variations for Mental Retardation, X-Linked 96:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SYP SYP, 1-BP INS, 274A insertion Pathogenic
2 SYP SYP, 2-BP DEL/INS indel Pathogenic
3 SYP SYP, 4-BP DEL, 829GACT deletion Pathogenic
4 SYP NM_003179.2(SYP): c.649G> C (p.Gly217Arg) single nucleotide variant Pathogenic rs137852561 GRCh37 Chromosome X, 49048187: 49048187
5 SYP NM_003179.2(SYP): c.649G> C (p.Gly217Arg) single nucleotide variant Pathogenic rs137852561 GRCh38 Chromosome X, 49191730: 49191730

Expression for Mental Retardation, X-Linked 96

Search GEO for disease gene expression data for Mental Retardation, X-Linked 96.

Pathways for Mental Retardation, X-Linked 96

GO Terms for Mental Retardation, X-Linked 96

Sources for Mental Retardation, X-Linked 96

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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