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 ¹²

Mental Retardation, X-Linked, Type 30/47 ³⁹

Mental Retardation, X-Linked 30/47 ²⁹

X-Linked Mental Retardation 30/47 ¹²

Mental Retardation, X-Linked 47 ⁶

X-Linked Mental Retardation 47 ¹²

Mrx30 ¹²

Mrx47 ¹²

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112051

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Summaries for Non-Syndromic X-Linked Intellectual Disability 30

Disease Ontology : ¹² 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 chromosome xp11.22 duplication syndrome and methylmalonic acidemia and homocysteinemia, cblx type. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 30 is PAK3 (P21 (RAC1) Activated Kinase 3). 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:

Non-Syndromic X-Linked Intellectual Disability 2	Non-Syndromic X-Linked Intellectual Disability 19
Non-Syndromic X-Linked Intellectual Disability 20	Non-Syndromic X-Linked Intellectual Disability 58
Non-Syndromic X-Linked Intellectual Disability 14	Non-Syndromic X-Linked Intellectual Disability 45
Non-Syndromic X-Linked Intellectual Disability 84	Non-Syndromic X-Linked Intellectual Disability 89
Non-Syndromic X-Linked Intellectual Disability 81	Non-Syndromic X-Linked Intellectual Disability 9
Non-Syndromic X-Linked Intellectual Disability 1	Non-Syndromic X-Linked Intellectual Disability 77
Non-Syndromic X-Linked Intellectual Disability 90	Non-Syndromic X-Linked Intellectual Disability 91
Non-Syndromic X-Linked Intellectual Disability 93	Non-Syndromic X-Linked Intellectual Disability 63
Non-Syndromic X-Linked Intellectual Disability 30	Non-Syndromic X-Linked Intellectual Disability 82
Non-Syndromic X-Linked Intellectual Disability 88	Non-Syndromic X-Linked Intellectual Disability 46
Non-Syndromic X-Linked Intellectual Disability 41	Non-Syndromic X-Linked Intellectual Disability 72

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

#	Related Disease	Score
1	chromosome xp11.22 duplication syndrome	9.9
2	methylmalonic acidemia and homocysteinemia, cblx type	9.9
3	non-syndromic x-linked intellectual disability	9.9
4	non-syndromic x-linked intellectual disability 2	9.9

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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

Genetic tests related to Non-Syndromic X-Linked Intellectual Disability 30:

#	Genetic test	Affiliating Genes
1	Mental Retardation, X-Linked 30/47 ²⁹

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

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

⁴⁰

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	Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. ⁶ ⁶¹	Bienvenu T...Beldjord C	10946356	2000
2	A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. ⁶	Rejeb I...Bahi-Buisson N	18523455	2008
3	PAK3 related mental disability: further characterization of the phenotype. ⁶	Peippo M...Jarvela I	17853471	2007
4	X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. ⁶	Gedeon AK...Mulley JC	12884430	2003
5	PAK3 mutation in nonsyndromic X-linked mental retardation. ⁶	Allen KM...Walsh CA	9731525	1998
6	Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. ⁶	des Portes V...Chelly J	9332663	1997
7	Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). ⁶	Donnelly AJ...Mulley JC	8826460	1996
8	Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. ⁶¹	Verot L...Edery P	12949969	2003
9	Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. ⁶¹	Sossey-Alaoui K...Srivastava AK	10493832	1999

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Genes for Non-Syndromic X-Linked Intellectual Disability 30

Genes related to Non-Syndromic X-Linked Intellectual Disability 30 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	18523455 17853471 12884430 (more) 9332663 10946356 8826460 9731525

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Variations for Non-Syndromic X-Linked Intellectual Disability 30

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 30:

⁶ (show all 32)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PAK3	NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter)	SNV	Pathogenic	11568	rs121434611	X:110439716-110439716	X:111196488-111196488
2	PAK3	NM_002578.5(PAK3):c.199C>T (p.Arg67Cys)	SNV	Pathogenic	11569	rs121434612	X:110385347-110385347	X:111142119-111142119
3	PAK3	NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu)	SNV	Pathogenic	11570	rs121434613	X:110437630-110437630	X:111194402-111194402
4	PAK3	NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser)	SNV	Pathogenic	11571	rs121434614	X:110439798-110439798	X:111196570-111196570
5	PAK3	NM_002578.5(PAK3):c.276+4A>G	SNV	Pathogenic	11572	rs1569398769	X:110385428-110385428	X:111142200-111142200
6	PAK3	NM_002578.5(PAK3):c.403C>T (p.Gln135Ter)	SNV	Likely pathogenic	981057		X:110391091-110391091	X:111147863-111147863
7	PAK3	NM_002578.5(PAK3):c.298C>T (p.Arg100Ter)	SNV	Likely pathogenic	438299	rs780775497	X:110390986-110390986	X:111147758-111147758
8	PAK3	NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg)	SNV	Likely pathogenic	633605	rs1603378331	X:110439743-110439743	X:111196515-111196515
9	PAK3	NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr)	SNV	Likely pathogenic	689610	rs1603377813	X:110439071-110439071	X:111195843-111195843
10	PAK3	NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)	SNV	Conflicting interpretations of pathogenicity	431711	rs200474454	X:110463619-110463619	X:111220391-111220391
11	PAK3	NM_002578.5(PAK3):c.-473G>C	SNV	Uncertain significance	914022		X:110339523-110339523	X:111096295-111096295
12	PAK3	NM_002578.5(PAK3):c.-470G>T	SNV	Uncertain significance	914023		X:110339526-110339526	X:111096298-111096298
13	PAK3	NM_002578.5(PAK3):c.-274G>C	SNV	Uncertain significance	914024		X:110340814-110340814	X:111097586-111097586
14	PAK3	NM_002578.5(PAK3):c.-160G>A	SNV	Uncertain significance	914025		X:110346402-110346402	X:111103174-111103174
15	PAK3	NM_002578.5(PAK3):c.862A>G (p.Ile288Val)	SNV	Uncertain significance	915255		X:110435386-110435386	X:111192158-111192158
16	PAK3	NM_002578.5(PAK3):c.*249G>T	SNV	Uncertain significance	912566		X:110463924-110463924	X:111220696-111220696
17	PAK3	NM_002578.5(PAK3):c.988G>A (p.Asp330Asn)	SNV	Uncertain significance	689627	rs1603373843	X:110435842-110435842	X:111192614-111192614
18	PAK3	NM_002578.5(PAK3):c.534_536AGA[4] (p.Glu182del)	Microsatellite	Uncertain significance	522789	rs749370794	X:110406206-110406208	X:111162978-111162980
19	PAK3	NM_002578.5(PAK3):c.*83C>T	SNV	Uncertain significance	367719	rs1057515731	X:110463758-110463758	X:111220530-111220530
20	PAK3	NM_002578.5(PAK3):c.492T>A (p.Pro164=)	SNV	Uncertain significance	367715	rs1057515729	X:110406166-110406166	X:111162938-111162938
21	PAK3	NM_002578.5(PAK3):c.665C>A (p.Pro222Gln)	SNV	Benign	367717	rs778585528	X:110406854-110406854	X:111163626-111163626
22	PAK3	NM_002578.5(PAK3):c.-15T>C	SNV	Benign	367713	rs758607736	X:110366317-110366317	X:111123089-111123089
23	PAK3	NM_002578.5(PAK3):c.1518G>A (p.Arg506=)	SNV	Benign	367718	rs377693111	X:110459759-110459759	X:111216531-111216531
24	PAK3	NM_002578.5(PAK3):c.483A>G (p.Ala161=)	SNV	Benign	367714	rs146801179	X:110406157-110406157	X:111162929-111162929
25	PAK3	NM_002578.5(PAK3):c.*463T>C	SNV	Benign	912567		X:110464138-110464138	X:111220910-111220910
26	PAK3	NM_002578.5(PAK3):c.-492G>A	SNV	Benign	914021		X:110339504-110339504	X:111096276-111096276
27	PAK3	NM_002578.5(PAK3):c.918G>A (p.Lys306=)	SNV	Benign	761365	rs151056810	X:110435772-110435772	X:111192544-111192544
28	PAK3	NM_002578.5(PAK3):c.-63A>G	SNV	Benign	914026		X:110346499-110346499	X:111103271-111103271
29	PAK3	NM_002578.5(PAK3):c.9C>T (p.Asp3=)	SNV	Benign	914027		X:110366340-110366340	X:111123112-111123112
30	PAK3	NM_002578.5(PAK3):c.531G>A (p.Glu177=)	SNV	Benign	211837	rs56270341	X:110406205-110406205	X:111162977-111162977
31	PAK3	NM_002578.5(PAK3):c.10G>A (p.Gly4Ser)	SNV	Benign	436144	rs140296303	X:110366341-110366341	X:111123113-111123113
32	PAK3	NM_002578.5(PAK3):c.1185C>T (p.Leu395=)	SNV	Benign	129873	rs150174049	X:110439144-110439144	X:111195916-111195916

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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

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

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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:

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

Genetic tests related to Non-Syndromic X-Linked Intellectual Disability 30:

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

MalaCards 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 (1 elite genes):

Variations for Non-Syndromic X-Linked Intellectual Disability 30

ClinVar genetic disease 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

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

Sources for Non-Syndromic X-Linked Intellectual Disability 30