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:

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:



External Ids:

Disease Ontology 11 DOID:0112051

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.

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 106 Non-Syndromic X-Linked Intellectual Disability 2
Non-Syndromic X-Linked Intellectual Disability 73 Non-Syndromic X-Linked Intellectual Disability 104
Non-Syndromic X-Linked Intellectual Disability 19 Non-Syndromic X-Linked Intellectual Disability 103
Non-Syndromic X-Linked Intellectual Disability Arx-Related Non-Syndromic X-Linked Intellectual Disability 21
Non-Syndromic X-Linked Intellectual Disability 20 Non-Syndromic X-Linked Intellectual Disability 58
Non-Syndromic X-Linked Intellectual Disability 99 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 96
Non-Syndromic X-Linked Intellectual Disability 105 Non-Syndromic X-Linked Intellectual Disability 1
Non-Syndromic X-Linked Intellectual Disability 77 Non-Syndromic X-Linked Intellectual Disability 100
Non-Syndromic X-Linked Intellectual Disability 90 Non-Syndromic X-Linked Intellectual Disability 91
Non-Syndromic X-Linked Intellectual Disability 98 Non-Syndromic X-Linked Intellectual Disability 93
Non-Syndromic X-Linked Intellectual Disability 97 Non-Syndromic X-Linked Intellectual Disability 53
Non-Syndromic X-Linked Intellectual Disability 101 Non-Syndromic X-Linked Intellectual Disability 23
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 107 Non-Syndromic X-Linked Intellectual Disability 46
Non-Syndromic X-Linked Intellectual Disability 42 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:

(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:



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

Search Clinical Trials, NIH Clinical Center 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:

MalaCards : 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
The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus. 62
15574732 2004
2
Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. 62
12949969 2003
3
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. 62
10946356 2000
4
Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. 62
10493832 1999
5
PAK3 mutation in nonsyndromic X-linked mental retardation. 62
9731525 1998
6
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). 62
8826460 1996

Variations for Non-Syndromic X-Linked Intellectual Disability 30

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.37 PRPS1L1 PRPS1
2
Show member pathways
9.4 PRPS1L1 PRPS1

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

Sources for Non-Syndromic X-Linked Intellectual Disability 30

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....