SMRXS
MCID: SYN083
MIFTS: 20

Syndromic X-Linked Intellectual Disability Shashi Type (SMRXS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 20 6
Mental Retardation, X-Linked, Syndromic 11, Shashi Type 12 29
Syndromic X-Linked Intellectual Disability Type 11 12 58
X-Linked Intellectual Disability, Shashi Type 20 58
Smrxs 12 20
Shashi X-Linked Mental Retardation Syndrome 12
Mental Retardation, X-Linked, Syndromic 11 70
X-Linked Mental Retardation Shashi Type 12
Mrxs11 12

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, shashi type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060826
ICD10 32 Q87.8
ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA85286
UMLS 70 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, is also known as mental retardation, x-linked, syndromic 11, shashi type. An important gene associated with Syndromic X-Linked Intellectual Disability Shashi Type is RBMX (RNA Binding Motif Protein X-Linked). Related phenotypes are coarse facial features and prominent supraorbital ridges

Related Diseases for Syndromic X-Linked Intellectual Disability Shashi Type

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

Human phenotypes related to Syndromic X-Linked Intellectual Disability Shashi Type:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
3 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
4 macroorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000053
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
7 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
8 palpebral edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100540
9 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
10 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
11 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
12 seizure 31 occasional (7.5%) HP:0001250
13 seizures 58 Occasional (29-5%)

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

Articles related to Syndromic X-Linked Intellectual Disability Shashi Type:

# Title Authors PMID Year
1
The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. 6
25256757 2015
2
A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 6
10677307 2000

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 Position
1 RBMX RBMX, 23-BP DEL, EX9 Deletion Pathogenic 372147 GRCh37:
GRCh38:
2 RBMX NM_002139.4(RBMX):c.389-8T>C SNV Uncertain significance 522685 rs181515589 GRCh37: X:135958822-135958822
GRCh38: X:136876663-136876663
3 RBMX NM_002139.4(RBMX):c.591A>G (p.Glu197=) SNV Uncertain significance 1027782 GRCh37: X:135957695-135957695
GRCh38: X:136875536-136875536

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