SMRXS
MCID: SYN083
MIFTS: 11

Syndromic X-Linked Intellectual Disability Shashi Type (SMRXS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability Shashi Type

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Shashi Type:

Name: Syndromic X-Linked Intellectual Disability Shashi Type 12 6
Mental Retardation, X-Linked, Syndromic 11, Shashi Type 12 29
Syndromic X-Linked Intellectual Disability Type 11 12
Shashi X-Linked Mental Retardation Syndrome 12
Mental Retardation, X-Linked, Syndromic 11 71
X-Linked Mental Retardation Shashi Type 12
Mrxs11 12
Smrxs 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060826
ICD10 32 Q87.8
UMLS 71 C1846145

Summaries for Syndromic X-Linked Intellectual Disability Shashi Type

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has material basis in mutation in the RBMX gene on chromosome Xq26.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Shashi Type, also known as mental retardation, x-linked, syndromic 11, shashi type, is related to x-linked intellectual disability, shashi type. An important gene associated with Syndromic X-Linked Intellectual Disability Shashi Type is RBMX (RNA Binding Motif Protein X-Linked).

Related Diseases for Syndromic X-Linked Intellectual Disability Shashi Type

Diseases related to Syndromic X-Linked Intellectual Disability Shashi Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability, shashi type 11.6

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability Shashi Type

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability Shashi Type

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability Shashi Type

Genetic Tests for Syndromic X-Linked Intellectual Disability Shashi Type

Genetic tests related to Syndromic X-Linked Intellectual Disability Shashi Type:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 11, Shashi Type 29

Anatomical Context for Syndromic X-Linked Intellectual Disability Shashi Type

Publications for Syndromic X-Linked Intellectual Disability Shashi Type

Variations for Syndromic X-Linked Intellectual Disability Shashi Type

ClinVar genetic disease variations for Syndromic X-Linked Intellectual Disability Shashi Type:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBMX RBMX, 23-BP DEL, EX9deletion Pathogenic 372147
2 RBMX NM_002139.4(RBMX):c.389-8T>CSNV Uncertain significance 522685 rs181515589 X:135958822-135958822 X:136876663-136876663

Expression for Syndromic X-Linked Intellectual Disability Shashi Type

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability Shashi Type.

Pathways for Syndromic X-Linked Intellectual Disability Shashi Type

GO Terms for Syndromic X-Linked Intellectual Disability Shashi Type

Sources for Syndromic X-Linked Intellectual Disability Shashi Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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