MCID: MNT195
MIFTS: 15

Mental Retardation, X-Linked 96

Categories: Genetic diseases, Neuronal diseases, Mental 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 57 75 29 13 6 73
Mrx96 57 75
Mental Retardation, X-Linked, Type 96 40

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
mental retardation, x-linked 96:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 96

UniProtKB/Swiss-Prot : 75 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 intellectual disability and seizures

Description from OMIM: 300802

Symptoms & Phenotypes for Mental Retardation, X-Linked 96

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation, mild to moderate
epilepsy (in some patients)


Clinical features from OMIM:

300802

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

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250

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 29 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:

75
# 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 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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