MRX63
MCID: NNS088
MIFTS: 13

Non-Syndromic X-Linked Intellectual Disability 63 (MRX63)

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

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 63

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 63:

Name: Non-Syndromic X-Linked Intellectual Disability 63 12
Acsl4-Related Intellectual Disability 12 20
Mental Retardation, X-Linked 68 6
X-Linked Mental Retardation 68 12
Mrx63 12
Mrx68 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112050

Summaries for Non-Syndromic X-Linked Intellectual Disability 63

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has material basis in heterozygous mutation in ACSL4 on chromosome Xq23.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability 63, also known as acsl4-related intellectual disability, is related to non-syndromic x-linked intellectual disability and alport syndrome. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 63 is ACSL4 (Acyl-CoA Synthetase Long Chain Family Member 4).

Related Diseases for Non-Syndromic X-Linked Intellectual Disability 63

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 63

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 63

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability 63

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 63

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 63

Publications for Non-Syndromic X-Linked Intellectual Disability 63

Articles related to Non-Syndromic X-Linked Intellectual Disability 63:

# Title Authors PMID Year
1
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. 61 6
12525535 2003
2
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 6
11889465 2002

Variations for Non-Syndromic X-Linked Intellectual Disability 63

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 63:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACSL4 NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser) SNV Pathogenic 11564 rs122458138 X:108904872-108904872 X:109661643-109661643
2 ACSL4 NM_001318510.2(ACSL4):c.1003-2A>G SNV Pathogenic 11565 rs1569423317 X:108912404-108912404 X:109669175-109669175
3 ACSL4 NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu) SNV Pathogenic 11566 rs122458139 X:108917632-108917632 X:109674403-109674403
4 ACSL4 NM_001318510.2(ACSL4):c.473C>A (p.Ser158Tyr) SNV Likely pathogenic 975171 X:108924538-108924538 X:109681309-109681309
5 ACSL4 NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn) SNV Uncertain significance 520570 rs1556225792 X:108906461-108906461 X:109663232-109663232
6 ACSL4 NM_001318510.2(ACSL4):c.1892G>A (p.Arg631Gln) SNV Uncertain significance 931637 X:108887379-108887379 X:109644150-109644150
7 ACSL4 NM_001318510.2(ACSL4):c.516+8T>G SNV Likely benign 982673 X:108924487-108924487 X:109681258-109681258

Expression for Non-Syndromic X-Linked Intellectual Disability 63

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability 63.

Pathways for Non-Syndromic X-Linked Intellectual Disability 63

GO Terms for Non-Syndromic X-Linked Intellectual Disability 63

Sources for Non-Syndromic X-Linked Intellectual Disability 63

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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