MCID: XLN007
MIFTS: 28

X-Linked Disease

Categories: Genetic diseases

Aliases & Classifications for X-Linked Disease

MalaCards integrated aliases for X-Linked Disease:

Name: X-Linked Disease 12 14

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 growth/size/body region and endocrine/exocrine gland

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

MGI Mouse Phenotypes related to X-Linked Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 CHM EFNB1 FLNA FMR1 FXR1 GPC3
2 endocrine/exocrine gland MP:0005379 9.97 FXR1 GRM5 OTC PORCN RPS6KA3 TAZ
3 integument MP:0010771 9.76 EFNB1 FMR1 FXR2 GPC3 GRM5 OTC
4 nervous system MP:0003631 9.73 CHM EFNB1 FLNA FMR1 FXR2 GRM5
5 reproductive system MP:0005389 9.5 PORCN RPS6KA3 TAZ EFNB1 F8 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:

38
Testes

Publications for X-Linked Disease

Articles related to X-Linked Disease:

(show all 29)
# Title Authors Year
1
Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B. ( 29037559 )
2017
2
Disease genetics: Zebrafish models ultra-rare X-linked disease. ( 25352305 )
2014
3
General aspects of X-linked diseases ( 21290690 )
2006
4
A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. ( 11738868 )
2001
5
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. ( 10646523 )
2000
6
A phenotype map of the mouse X chromosome: models for human X-linked disease. ( 10720569 )
2000
7
Transcription map of Xq27: candidates for several X-linked diseases. ( 10198160 )
1999
8
X inactivation in females with X-linked disease. ( 9445416 )
1998
9
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
10
Cell recycling of a single human cell for preimplantation diagnosis of X-linked disease and dual sex determination. ( 9238693 )
1996
11
DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. ( 7650159 )
1995
12
X chromosome inactivation and the diagnosis of X linked disease in females. ( 8097254 )
1993
13
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
14
Female infant affected with an X-linked disease. ( 1919906 )
1991
15
Comparison of direct and indirect methods of carrier detection in an X-linked disease. ( 1970704 )
1990
16
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome. ( 1976460 )
1990
17
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency. ( 2298453 )
1990
18
Menkes' X-linked disease: prenatal diagnosis and carrier detection. ( 6413776 )
1983
19
DNA probes in X-linked disease. ( 6129448 )
1983
20
DNA probes and carriers of X-linked disease. ( 6128523 )
1982
21
Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. ( 7346814 )
1981
22
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. ( 7195507 )
1981
23
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. ( 7205900 )
1980
24
Menkes X linked disease: two clonal cell populations in heterozygotes. ( 7205901 )
1980
25
Reliability of BAckAcsy threshold tracing in identification of carriers of genes for an X-linked disease with deafness. ( 626054 )
1978
26
Stability of AMP:pyrophosphate phosphoribosyltransferase, an autosomally determined enzyme in an X-linked disease. Identification of a destabilizer. ( 4652560 )
1972
27
Congenital adrenal hypoplasia--an X-linked disease. ( 5312341 )
1970
28
Lyon hypothesis and x-linked disease. ( 4170678 )
1968
29
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 polysome GO:0005844 8.8 FMR1 FXR1 FXR2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene silencing by miRNA GO:2000637 8.62 FMR1 FXR1

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 9.5 FMR1 FXR1 FXR2
2 Rac GTPase binding GO:0048365 9.33 FLNA OCRL WAS
3 small GTPase binding GO:0031267 9.26 FLNA WAS
4 RNA strand annealing activity GO:0033592 8.96 FMR1 FXR1
5 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....