MCID: XLN007
MIFTS: 30

X-Linked Disease

Categories: Genetic diseases

Aliases & Classifications for X-Linked Disease

MalaCards integrated aliases for X-Linked Disease:

Name: X-Linked Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050735

Summaries for X-Linked Disease

Disease Ontology : 12 A monogenic disease that has material basis in muations in genes on the X chromosome.

MalaCards based summary : X-Linked Disease is related to fragile x syndrome and barth syndrome. An important gene associated with X-Linked Disease is TAZ (Tafazzin), and among its related pathways/superpathways is Neuroscience. The drugs Ifetroban and Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for X-Linked Disease

Graphical network of the top 20 diseases related to X-Linked Disease:



Diseases related to X-Linked Disease

Symptoms & Phenotypes for X-Linked Disease

GenomeRNAi Phenotypes related to X-Linked Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.03 FLNA
2 Decreased viability GR00221-A-2 10.03 RPS6KA3
3 Decreased viability GR00342-S-1 10.03 RPS6KA3
4 Decreased viability GR00381-A-1 10.03 GRM5
5 Decreased viability GR00402-S-2 10.03 FXR1 FXR2 GPC3 GRM5 NDP OCRL
6 no effect GR00402-S-1 9.62 AFF2 CHM EFNB1 F8 FLNA FMR1

MGI Mouse Phenotypes related to X-Linked Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 CHM EFNB1 FLNA FMR1 FXR1 GPC3
2 endocrine/exocrine gland MP:0005379 10.02 EFNB1 FMR1 FXR1 GRM5 OTC PORCN
3 nervous system MP:0003631 9.93 CHM EFNB1 FLNA FMR1 FXR2 GRM5
4 integument MP:0010771 9.86 EFNB1 FMR1 FXR2 GPC3 GRM5 OTC
5 reproductive system MP:0005389 9.83 EFNB1 F8 FLNA FMR1 FXR1 FXR2
6 vision/eye MP:0005391 9.17 NDP OCRL RPS6KA3 CHM EFNB1 FLNA

Drugs & Therapeutics for X-Linked Disease

Drugs for X-Linked Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ifetroban Investigational Phase 2 143443-90-7
2 Platelet Aggregation Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Ifetroban in Subjects With Duchenne Muscular Dystrophy Not yet recruiting NCT03340675 Phase 2 Ifetroban;Placebos
2 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
3 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015

Search NIH Clinical Center for X-Linked Disease

Genetic Tests for X-Linked Disease

Anatomical Context for X-Linked Disease

MalaCards organs/tissues related to X-Linked Disease:

41
Testes

Publications for X-Linked Disease

Articles related to X-Linked Disease:

(show all 31)
# Title Authors Year
1
Potentially effective method for fetal gender determination by noninvasive prenatal testing for X-linked disease. ( 29926512 )
2018
2
Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B. ( 29037559 )
2017
3
Disease genetics: Zebrafish models ultra-rare X-linked disease. ( 25352305 )
2014
4
General aspects of X-linked diseases ( 21290690 )
2006
5
[Contribution of genotyping for fetal sex determination in maternal serum for preimplantation genetic diagnosis of X-linked diseases]. ( 14680784 )
2003
6
A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. ( 11738868 )
2001
7
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. ( 10646523 )
2000
8
A phenotype map of the mouse X chromosome: models for human X-linked disease. ( 10720569 )
2000
9
Transcription map of Xq27: candidates for several X-linked diseases. ( 10198160 )
1999
10
X inactivation in females with X-linked disease. ( 9445416 )
1998
11
Cell recycling of a single human cell for preimplantation diagnosis of X-linked disease and dual sex determination. ( 9238693 )
1996
12
Identifying the sex of human preimplantation embryos in X-linked disease: amplification efficiency of a Y-specific alphoid repeat from single blastomeres with two lysis protocols. ( 8688584 )
1996
13
DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. ( 7650159 )
1995
14
X chromosome inactivation and the diagnosis of X linked disease in females. ( 8097254 )
1993
15
Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. ( 8401500 )
1993
16
Female infant affected with an X-linked disease. ( 1919906 )
1991
17
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome. ( 1976460 )
1990
18
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency. ( 2298453 )
1990
19
Comparison of direct and indirect methods of carrier detection in an X-linked disease. ( 1970704 )
1990
20
DNA probes in X-linked disease. ( 6129448 )
1983
21
Menkes' X-linked disease: prenatal diagnosis and carrier detection. ( 6413776 )
1983
22
DNA probes and carriers of X-linked disease. ( 6128523 )
1982
23
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. ( 7195507 )
1981
24
Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. ( 7346814 )
1981
25
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. ( 7205900 )
1980
26
Menkes X linked disease: two clonal cell populations in heterozygotes. ( 7205901 )
1980
27
Reliability of BAckAcsy threshold tracing in identification of carriers of genes for an X-linked disease with deafness. ( 626054 )
1978
28
Stability of AMP:pyrophosphate phosphoribosyltransferase, an autosomally determined enzyme in an X-linked disease. Identification of a destabilizer. ( 4652560 )
1972
29
Congenital adrenal hypoplasia--an X-linked disease. ( 5312341 )
1970
30
Lyon hypothesis and x-linked disease. ( 4170678 )
1968
31
Biochemical diagnosis of an X-linked disease in utero. ( 4174524 )
1968

Variations for X-Linked Disease

Expression for X-Linked Disease

Search GEO for disease gene expression data for X-Linked Disease.

Pathways for X-Linked Disease

Pathways related to X-Linked Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 FMR1 FXR1 FXR2 GRM5

GO Terms for X-Linked Disease

Cellular components related to X-Linked Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.71 FLNA FMR1 FXR1 FXR2
2 postsynaptic density GO:0014069 9.56 FMR1 FXR1 FXR2 GRM5
3 dendritic spine GO:0043197 9.54 FMR1 FXR1 FXR2
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.5 FMR1 FXR1 FXR2
5 polysome GO:0005844 9.33 FMR1 FXR1 FXR2
6 ribonucleoprotein granule GO:0035770 9.13 FMR1 FXR1 FXR2
7 neuronal ribonucleoprotein granule GO:0071598 8.8 FMR1 FXR1 FXR2

Biological processes related to X-Linked Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of mRNA stability GO:0043488 9.67 FMR1 FXR1 FXR2
2 central nervous system development GO:0007417 9.67 FMR1 FXR1 FXR2 RPS6KA3
3 negative regulation of translation GO:0017148 9.63 FMR1 FXR1 FXR2
4 positive regulation of translation GO:0045727 9.61 FMR1 FXR1 FXR2
5 neuron development GO:0048666 9.58 FMR1 FXR1 FXR2
6 anterograde axonal transport GO:0008089 9.5 FMR1 FXR1 FXR2
7 positive regulation of gene silencing by miRNA GO:2000637 9.48 FMR1 FXR1
8 regulation of dendrite morphogenesis GO:0048814 9.43 FMR1 FXR1 FXR2
9 regulation of dendritic spine development GO:0060998 9.33 FMR1 FXR1 FXR2
10 regulation of modification of synaptic structure GO:1905244 9.13 FMR1 FXR1 FXR2
11 regulation of translation at postsynapse, modulating synaptic transmission GO:0099578 8.8 FMR1 FXR1 FXR2

Molecular functions related to X-Linked Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding GO:0003729 9.54 FMR1 FXR1 FXR2
2 mRNA 3-UTR binding GO:0003730 9.5 FMR1 FXR1 FXR2
3 Rac GTPase binding GO:0048365 9.43 FLNA OCRL WAS
4 RNA strand annealing activity GO:0033592 9.16 FMR1 FXR1
5 translation regulator activity GO:0045182 9.13 FMR1 FXR1 FXR2
6 G-quadruplex RNA binding GO:0002151 8.8 AFF2 FMR1 FXR1

Sources for X-Linked Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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