MRX44
MCID: NNS082
MIFTS: 17

Non-Syndromic X-Linked Intellectual Disability 9 (MRX44)

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

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 9

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 9:

Name: Non-Syndromic X-Linked Intellectual Disability 9 12
Mental Retardation, X-Linked 44 73 6
Mrx44 12 73
Mrx9 12 73
Non-Specific X-Linked Mental Retardation Type 44 73
Mental Retardation Non-Syndromic X-Linked 44 73
X-Linked Mental Retardation 44 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112034
MeSH 44 D038901
MedGen 41 C0796215

Summaries for Non-Syndromic X-Linked Intellectual Disability 9

UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked 44: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability 9, also known as mental retardation, x-linked 44, is related to mental retardation, x-linked, with or without seizures, arx-related and developmental and epileptic encephalopathy 1. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 9 is FTSJ1 (FtsJ RNA 2'-O-Methyltransferase 1).

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has material basis in hemizygous mutation in FTSJ1 on chromosome Xp11.23.

Related Diseases for Non-Syndromic X-Linked Intellectual Disability 9

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

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with or without seizures, arx-related 9.9
2 developmental and epileptic encephalopathy 1 9.9
3 partington x-linked mental retardation syndrome 9.9
4 west syndrome 9.9
5 non-syndromic x-linked intellectual disability 9.9
6 non-syndromic x-linked intellectual disability 45 9.9

Graphical network of the top 20 diseases related to Non-Syndromic X-Linked Intellectual Disability 9:



Diseases related to Non-Syndromic X-Linked Intellectual Disability 9

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 9

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 9

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability 9

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 9

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 9

Publications for Non-Syndromic X-Linked Intellectual Disability 9

Articles related to Non-Syndromic X-Linked Intellectual Disability 9:

# Title Authors PMID Year
1
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). 61 6
15342698 2004
2
Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome. 6 61
8288232 1993
3
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. 6
15162322 2004
4
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 6
10398246 1999
5
Increased mitochondrial respiration promotes survival from endoplasmic reticulum stress. 61
29795335 2019
6
Family MRX9 revisited: further evidence for locus heterogeneity in MRX. 61
12239714 2002

Variations for Non-Syndromic X-Linked Intellectual Disability 9

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FTSJ1 FTSJ1, EX9DEL Deletion Pathogenic 10894
2 FTSJ1 NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter) SNV Pathogenic 10895 rs1602048836 X:48337009-48337009 X:48478621-48478621
3 FTSJ1 FTSJ1, IVS2, G DEL, +1 Deletion Pathogenic 10896
4 FTSJ1 NM_012280.4(FTSJ1):c.192-2A>G SNV Pathogenic 10897 rs1602048728 X:48337003-48337003 X:48478615-48478615
5 FTSJ1 NM_012280.4(FTSJ1):c.256del (p.Val86fs) Deletion Pathogenic 975240 X:48337068-48337068 X:48478680-48478680
6 FTSJ1 NM_012280.4(FTSJ1):c.742C>T (p.Arg248Cys) SNV Uncertain significance 431367 rs1135401942 X:48340877-48340877 X:48482489-48482489

Expression for Non-Syndromic X-Linked Intellectual Disability 9

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability 9.

Pathways for Non-Syndromic X-Linked Intellectual Disability 9

GO Terms for Non-Syndromic X-Linked Intellectual Disability 9

Sources for Non-Syndromic X-Linked Intellectual Disability 9

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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