Syndromic X-Linked Intellectual Disability Shashi Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

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

SNOMED-CT via HPO ⁶⁸ 128613002 162294008 229721007 more

UMLS ⁷⁰ C1846145

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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

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Related Diseases for Syndromic X-Linked Intellectual Disability Shashi Type

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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%)

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

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

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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

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Anatomical Context for Syndromic X-Linked Intellectual Disability Shashi Type

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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	Shashi V...Need AC	25256757	2015
2	A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. ⁶	Shashi V...Hart TC	10677307	2000

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Genes for Syndromic X-Linked Intellectual Disability Shashi Type

Genes related to Syndromic X-Linked Intellectual Disability Shashi Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RBMX	RNA Binding Motif Protein X-Linked	Protein Coding	408.18	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	10677307 25256757

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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

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Expression for Syndromic X-Linked Intellectual Disability Shashi Type

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

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Pathways for Syndromic X-Linked Intellectual Disability Shashi Type

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GO Terms for Syndromic X-Linked Intellectual Disability Shashi Type

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Sources for Syndromic X-Linked Intellectual Disability Shashi Type

¹ BioSystems

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⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Syndromic X-Linked Intellectual Disability Shashi Type (SMRXS)

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

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

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Syndromic X-Linked Intellectual Disability Shashi Type

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:

Drugs & Therapeutics 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:

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:

Genes for Syndromic X-Linked Intellectual Disability Shashi Type

Genes related to Syndromic X-Linked Intellectual Disability Shashi Type (1 elite genes):

Variations for Syndromic X-Linked Intellectual Disability Shashi Type

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

Expression 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