Non-Syndromic X-Linked Intellectual Disability 63 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112050

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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).

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

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 63 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	non-syndromic x-linked intellectual disability	9.9
2	alport syndrome	9.9

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

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

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

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

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

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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	Longo I...Froyen G	12525535	2003
2	FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. ⁶	Meloni I...Renieri A	11889465	2002

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Genes for Non-Syndromic X-Linked Intellectual Disability 63

Genes related to Non-Syndromic X-Linked Intellectual Disability 63 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ACSL4	Acyl-CoA Synthetase Long Chain Family Member 4	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	12525535 11889465

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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

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Expression for Non-Syndromic X-Linked Intellectual Disability 63

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

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Pathways for Non-Syndromic X-Linked Intellectual Disability 63

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

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Sources for Non-Syndromic X-Linked Intellectual Disability 63

¹ BioSystems

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

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

Classifications:

External Ids:

Summaries for Non-Syndromic X-Linked Intellectual Disability 63

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

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

Diseases related to Non-Syndromic X-Linked Intellectual Disability 63 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Drugs & Therapeutics 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:

Genes for Non-Syndromic X-Linked Intellectual Disability 63

Genes related to Non-Syndromic X-Linked Intellectual Disability 63 (1 elite genes):

Variations for Non-Syndromic X-Linked Intellectual Disability 63

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

Expression 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