MCID: XLN007
MIFTS: 34

X-Linked Disease malady

Categories: Genetic diseases

Aliases & Classifications for X-Linked Disease

Aliases & Descriptions 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 barth syndrome and duchenne muscular dystrophy. An important gene associated with X-Linked Disease is CHM (CHM, Rab Escort Protein 1), and among its related pathways/superpathways is Neuroscience. The drugs Valproic Acid and Dorzolamide have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.77 FXR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.77 FXR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.77 STS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.77 OCRL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.77 FXR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.77 FXR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.77 STS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.77 GRM5 OCRL STS FXR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.77 FXR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.77 OCRL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.77 GRM5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.77 FXR2 GRM5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.77 STS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.77 FXR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.77 STS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.77 FXR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.77 FXR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.77 FXR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.77 GRM5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.77 OCRL FXR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.77 GRM5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.77 OCRL
23 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.77 GRM5

MGI Mouse Phenotypes related to X-Linked Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 OCRL OTC PDHA1 PORCN RPS6KA3 ZFX
2 endocrine/exocrine gland MP:0005379 10.07 EFNB1 FMR1 FXR1 GRM5 OTC PORCN
3 nervous system MP:0003631 9.9 CHM EFNB1 FMR1 FXR2 GRM5 OTC
4 integument MP:0010771 9.86 GRM5 OTC PORCN RPS6KA3 EFNB1 FMR1
5 renal/urinary system MP:0005367 9.5 GPC3 OCRL OTC PORCN RPS6KA3 WAS
6 reproductive system MP:0005389 9.4 EFNB1 FMR1 FXR1 FXR2 GPC3 GRM5

Drugs & Therapeutics for X-Linked Disease

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

(show top 50) (show all 471)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
2
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
3
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
4
Ramipril Approved Phase 4 87333-19-5 5362129
5
Menthol Approved Phase 4,Early Phase 1 2216-51-5 16666
6
Clozapine Approved Phase 4 5786-21-0 2818
7
Goserelin Approved Phase 4 65807-02-5 47725 5311128
8
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
9
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
10
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
11
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3 1744-22-5 5070
12
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Early Phase 1 171596-29-5 110635
13
Histamine Approved, Investigational Phase 4,Phase 2 75614-87-8, 51-45-6 774
14
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
15
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
16
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
17
Coal tar Approved Phase 4,Phase 2 8007-45-2
18
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
19
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
20 Anticonvulsants Phase 4,Phase 2,Phase 3,Phase 1
21 Antidepressive Agents Phase 4,Phase 1,Phase 2
22 Antimanic Agents Phase 4,Phase 2
23 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
25 GABA Agents Phase 4,Phase 2
26 Lithium carbonate Phase 4 554-13-2
27 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Psychotropic Drugs Phase 4,Phase 3,Phase 1,Phase 2
29 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Antihypertensive Agents Phase 4,Phase 3,Phase 2
31 Carbonic Anhydrase Inhibitors Phase 4
32 Adrenergic Agents Phase 4,Phase 3,Phase 2
33 Adrenergic alpha-1 Receptor Antagonists Phase 4
34 Adrenergic alpha-Antagonists Phase 4
35 Adrenergic Antagonists Phase 4
36 Adrenergic beta-Antagonists Phase 4
37 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
39 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
40
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
41 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
43 Factor VIII Phase 4,Phase 2,Phase 3,Phase 1
44 Adjuvants, Immunologic Phase 4,Phase 2,Phase 1
45 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
46 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
47 Anticholesteremic Agents Phase 4,Phase 2,Phase 1
48 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2,Phase 1
50 Hypolipidemic Agents Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 897)
id Name Status NCT ID Phase
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4
2 Pharmacogenomics of Mood Stabilizer Response in Bipolar Disorder (PGBD) Unknown status NCT01272531 Phase 4
3 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
4 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4
5 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4
6 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4
7 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
8 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
9 Specialized Clozapine Clinic for Bipolar and Schizoaffective Disorder Completed NCT00683709 Phase 4
10 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4
11 Transcranial Magnetic Stimulation in Bipolar Depression Completed NCT00186758 Phase 4
12 A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood Completed NCT00001317 Phase 4
13 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4
14 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4
15 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
16 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
17 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4
18 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
19 Melatonin Versus Placebo for Benzodiazepine Discontinuation in Patients With Schizophrenia Completed NCT01431092 Phase 4
20 Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4
21 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4
22 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4
23 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
24 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
25 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4
26 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4
27 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
28 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4
29 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4
30 Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients Completed NCT00244114 Phase 4
31 Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B Completed NCT00195221 Phase 4
32 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
33 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
34 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
35 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4
36 Prospective Registry of European Hemophilia B Patients Receiving BeneFIX® for Usual Use Completed NCT00167973 Phase 4
37 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4
38 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4
39 Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study Recruiting NCT00455104 Phase 4
40 A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants Recruiting NCT00230607 Phase 4
41 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
42 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4
43 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
44 Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4
45 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4
46 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3
47 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3
48 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
49 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
50 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3

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:

39
Testes

Publications for X-Linked Disease

Articles related to X-Linked Disease:

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

id Super pathways Score Top Affiliating Genes
1 11.43 FMR1 FXR1 FXR2 GRM5

GO Terms for X-Linked Disease

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.54 WAS WASL WIPF1
2 protein complex assembly GO:0006461 9.5 WAS WASL WIPF1
3 actin filament-based movement GO:0030048 9.26 WAS WIPF1
4 positive regulation of gene silencing by miRNA GO:2000637 9.16 FMR1 FXR1
5 positive regulation of Arp2/3 complex-mediated actin nucleation GO:2000601 8.96 WAS WASL
6 actin polymerization or depolymerization GO:0008154 8.8 WAS WASL WIPF1

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

id Name GO ID Score Top Affiliating Genes
1 mRNA binding GO:0003729 9.43 FMR1 FXR1 FXR2
2 GTPase regulator activity GO:0030695 9.16 WAS WASL
3 RNA strand annealing activity GO:0033592 8.96 FMR1 FXR1
4 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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