MRX96
MCID: MNT195
MIFTS: 19

Mental Retardation, X-Linked 96 (MRX96)

Categories: Fetal diseases, 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 57 72 29 13 6 70
Mrx96 57 12 72
Non-Syndromic X-Linked Intellectual Disability 96 12
Mental Retardation, X-Linked, Type 96 39
X-Linked Mental Retardation 96 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive


HPO:

31
mental retardation, x-linked 96:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112035
OMIM® 57 300802
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901
UMLS 70 C3275408

Summaries for Mental Retardation, X-Linked 96

UniProtKB/Swiss-Prot : 72 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 seizure and intellectual disability

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has material basis in hemizygous mutation in SYP on chromosome Xp11.23.

More information from OMIM: 300802 PS309530

Symptoms & Phenotypes for Mental Retardation, X-Linked 96

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

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
mental retardation, mild to moderate
epilepsy (in some patients)

Clinical features from OMIM®:

300802 (Updated 20-May-2021)

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

Articles related to Mental Retardation, X-Linked 96:

# Title Authors PMID Year
1
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 6 57
19377476 2009

Variations for Mental Retardation, X-Linked 96

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYP SYP, 1-BP INS, 274A Insertion Pathogenic 9863 GRCh37:
GRCh38:
2 SYP SYP, 2-BP DEL/INS Indel Pathogenic 9864 GRCh37:
GRCh38:
3 SYP SYP, 4-BP DEL, 829GACT Deletion Pathogenic 9865 GRCh37:
GRCh38:
4 SYP NM_003179.2(SYP):c.649G>C (p.Gly217Arg) SNV Pathogenic 9866 rs137852561 GRCh37: X:49048187-49048187
GRCh38: X:49191730-49191730
5 SYP NM_003179.3(SYP):c.103G>A (p.Val35Ile) SNV Uncertain significance 982860 GRCh37: X:49054298-49054298
GRCh38: X:49197839-49197839
6 SYP NM_003179.3(SYP):c.526A>G (p.Ile176Val) SNV Uncertain significance 1030635 GRCh37: X:49049818-49049818
GRCh38: X:49193361-49193361

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

72
# Symbol AA change Variation ID SNP ID
1 SYP p.Gly217Arg VAR_062986 rs137852561

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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