MRX30
MCID: NNS089
MIFTS: 18

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

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:



External Ids:

Disease Ontology 12 DOID:0112051

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.

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 Top Affiliating Genes
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

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

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

Search Clinical Trials , NIH Clinical Center 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:

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

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

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

40
Brain

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
10946356 2000
2
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 6
18523455 2008
3
PAK3 related mental disability: further characterization of the phenotype. 6
17853471 2007
4
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 6
12884430 2003
5
PAK3 mutation in nonsyndromic X-linked mental retardation. 6
9731525 1998
6
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. 6
9332663 1997
7
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). 6
8826460 1996
8
Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. 61
12949969 2003
9
Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. 61
10493832 1999

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

Expression for Non-Syndromic X-Linked Intellectual Disability 30

Search GEO for disease gene expression data 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

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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