Non-Syndromic X-Linked Intellectual Disability 30 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 30

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 30:

Name: Non-Syndromic X-Linked Intellectual Disability 30 ¹¹ ¹⁴

Mental Retardation, X-Linked, Type 30/47 ³⁸

X-Linked Mental Retardation 30/47 ¹¹

X-Linked Mental Retardation 47 ¹¹

Mrx30 ¹¹

Mrx47 ¹¹

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0112051

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Summaries for Non-Syndromic X-Linked Intellectual Disability 30

Disease Ontology: ¹¹ A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has material basis in hemizygous mutation in PAK3 on chromosome Xq23.

MalaCards based summary: Non-Syndromic X-Linked Intellectual Disability 30, also known as mental retardation, x-linked, type 30/47, is related to non-syndromic x-linked intellectual disability and intellectual developmental disorder, x-linked 30. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 30 is PAK3 (P21 (RAC1) Activated Kinase 3), and among its related pathways/superpathways are Pentose phosphate pathway and PRPP biosynthesis. Affiliated tissues include brain.

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Related Diseases for Non-Syndromic X-Linked Intellectual Disability 30

Diseases in the Non-Syndromic X-Linked Intellectual Disability family:

Diseases related to Non-Syndromic X-Linked Intellectual Disability 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score	Top Affiliating Genes
1	non-syndromic x-linked intellectual disability	28.6	PAK3 PAK1IP1 MID2 IL1RAPL1 AFF2 ACSL4
2	intellectual developmental disorder, x-linked 30	11.2
3	tetanus neonatorum	10.1	PAK3 MID2
4	charcot-marie-tooth disease type 5	10.0	PRPS1L1 PRPS1
5	deafness, x-linked 3	10.0	PRPS1L1 PRPS1
6	cataract 40	10.0	PRPS1L1 PRPS1
7	childhood b-cell acute lymphoblastic leukemia	10.0	PRPS1L1 PRPS1
8	deafness, x-linked 1	10.0	PRPS1L1 PRPS1
9	deafness, x-linked 4	10.0	PRPS1L1 PRPS1
10	charcot-marie-tooth disease type x	10.0	PRPS1L1 PRPS1
11	deafness, x-linked 5, with peripheral neuropathy	10.0	PRPS1L1 PRPS1
12	charcot-marie-tooth disease, x-linked recessive, 5	10.0	PRPS1L1 PRPS1
13	deafness, x-linked 7	10.0	PRPS1L1 PRPS1
14	phosphoribosylpyrophosphate synthetase superactivity	10.0	PRPS1L1 PRPS1
15	arts syndrome	10.0	PRPS1L1 PRPS1
16	hyperuricemia, hprt-related	9.9	PRPS1L1 PRPS1
17	intellectual developmental disorder, x-linked 2	9.9
18	chromosome xp11.22 duplication syndrome	9.9
19	intellectual developmental disorder, x-linked 19	9.9
20	intellectual developmental disorder, x-linked 1	9.9
21	methylmalonic aciduria and homocystinuria, cblx type	9.9
22	intellectual developmental disorder, x-linked 109	9.9
23	non-syndromic x-linked intellectual disability 2	9.9
24	non-syndromic x-linked intellectual disability 1	9.9
25	purine-pyrimidine metabolic disorder	9.9	PRPS1L1 PRPS1
26	x-linked nonsyndromic deafness	9.9	PRPS1L1 PRPS1
27	deafness, x-linked 2	9.8	PRPS1L1 PRPS1
28	opitz-kaveggia syndrome	9.8	PRPS1L1 PRPS1 MID2
29	lesch-nyhan syndrome	9.7	PRPS1L1 PRPS1
30	syndromic x-linked intellectual disability	9.6	PRPS1L1 PRPS1 AFF2 ACSL4
31	non-syndromic x-linked intellectual disability 63	9.6	PRPS1L1 PRPS1 MID2 ACSL4
32	syndromic intellectual disability	9.4	PRPS1L1 PRPS1 PAK3 IL1RAPL1 AFF2

Graphical network of the top 20 diseases related to Non-Syndromic X-Linked Intellectual Disability 30:

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Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 30

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Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 30

Search Clinical Trials, NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability 30

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Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 30

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Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 30

Organs/tissues related to Non-Syndromic X-Linked Intellectual Disability 30:

MalaCards : Brain

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Publications for Non-Syndromic X-Linked Intellectual Disability 30

Articles related to Non-Syndromic X-Linked Intellectual Disability 30:

#	Title	Authors	PMID	Year
1	The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus. ⁶²	Boda B...Muller D	15574732	2004
2	Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. ⁶²	Verot L...Edery P	12949969	2003
3	Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. ⁶²	Bienvenu T...Beldjord C	10946356	2000
4	Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. ⁶²	Sossey-Alaoui K...Srivastava AK	10493832	1999
5	PAK3 mutation in nonsyndromic X-linked mental retardation. ⁶²	Allen KM...Walsh CA	9731525	1998
6	Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). ⁶²	Donnelly AJ...Mulley JC	8826460	1996

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Genes for Non-Syndromic X-Linked Intellectual Disability 30

Genes related to Non-Syndromic X-Linked Intellectual Disability 30 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	5.75	DISEASES inferred ¹⁴
2	CFC1	Cripto, FRL-1, Cryptic Family 1	Protein Coding	5.54	DISEASES inferred ¹⁴
3	ACSL4	Acyl-CoA Synthetase Long Chain Family Member 4	Protein Coding	5.44	DISEASES inferred ¹⁴
4	IL1RAPL1	Interleukin 1 Receptor Accessory Protein Like 1	Protein Coding	5.35	DISEASES inferred ¹⁴
5	PRPS1L1	Phosphoribosyl Pyrophosphate Synthetase 1 Like 1	Protein Coding	5.32	DISEASES inferred ¹⁴
6	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	5.15	DISEASES inferred ¹⁴
7	MID2	Midline 2	Protein Coding	5.13	DISEASES inferred ¹⁴
8	PAK1IP1	PAK1 Interacting Protein 1	Protein Coding	5.07	DISEASES inferred ¹⁴
9	ARHGAP10	Rho GTPase Activating Protein 10	Protein Coding	5.05	DISEASES inferred ¹⁴
10	AFF2	ALF Transcription Elongation Factor 2	Protein Coding	4.98	DISEASES inferred ¹⁴

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Variations for Non-Syndromic X-Linked Intellectual Disability 30

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Expression for Non-Syndromic X-Linked Intellectual Disability 30

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability 30.

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Pathways for Non-Syndromic X-Linked Intellectual Disability 30

Pathways related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pentose phosphate pathway ⁶⁶ Show member pathways Insulin effects increased synthesis of Xylulose-5-Phosphate ⁶⁶ Pentose phosphate metabolism ⁷⁴ Pentose phosphate pathway disease ⁶⁶	10.37	PRPS1L1 PRPS1
2	PRPP biosynthesis ⁶¹ Show member pathways 5-Phosphoribose 1-diphosphate biosynthesis ⁶⁶	9.4	PRPS1L1 PRPS1

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GO Terms for Non-Syndromic X-Linked Intellectual Disability 30

Cellular components related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ribose phosphate diphosphokinase complex	GO:0002189	8.92	PRPS1L1 PRPS1

Biological processes related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	purine nucleotide biosynthetic process	GO:0006164	9.62	PRPS1L1 PRPS1
2	regulation of neuron projection development	GO:0010975	9.54	PAK3 IL1RAPL1
3	nucleotide biosynthetic process	GO:0009165	9.26	PRPS1L1 PRPS1
4	5-phosphoribose 1-diphosphate biosynthetic process	GO:0006015	9.26	PRPS1L1 PRPS1
5	cellular biosynthetic process	GO:0044249	9.16	PRPS1L1 PRPS1
6	ribonucleoside monophosphate biosynthetic process	GO:0009156	8.92	PRPS1L1 PRPS1

Molecular functions related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ribose phosphate diphosphokinase activity	GO:0004749	8.92	PRPS1L1 PRPS1

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Sources for Non-Syndromic X-Linked Intellectual Disability 30

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MRX30 MCID: NNS089 MIFTS: 21	Non-Syndromic X-Linked Intellectual Disability 30 (MRX30) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Expand all tables

Non-Syndromic X-Linked Intellectual Disability 30 (MRX30)

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 30

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 30:

Classifications:

External Ids:

Summaries for Non-Syndromic X-Linked Intellectual Disability 30

Related Diseases for Non-Syndromic X-Linked Intellectual Disability 30

Diseases in the Non-Syndromic X-Linked Intellectual Disability family:

Diseases related to Non-Syndromic X-Linked Intellectual Disability 30 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Non-Syndromic X-Linked Intellectual Disability 30:

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 30

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 30

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 30

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 30

Organs/tissues related to Non-Syndromic X-Linked Intellectual Disability 30:

Publications for Non-Syndromic X-Linked Intellectual Disability 30

Articles related to Non-Syndromic X-Linked Intellectual Disability 30:

Genes for Non-Syndromic X-Linked Intellectual Disability 30

Genes related to Non-Syndromic X-Linked Intellectual Disability 30 (0 elite genes):

Variations for Non-Syndromic X-Linked Intellectual Disability 30

Expression for Non-Syndromic X-Linked Intellectual Disability 30

Pathways for Non-Syndromic X-Linked Intellectual Disability 30

Pathways related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

GO Terms for Non-Syndromic X-Linked Intellectual Disability 30

Cellular components related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

Biological processes related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

Molecular functions related to Non-Syndromic X-Linked Intellectual Disability 30 according to GeneCards Suite gene sharing:

Sources for Non-Syndromic X-Linked Intellectual Disability 30