MCID: XLN007
MIFTS: 36

X-Linked Disease malady

Summaries for X-Linked Disease

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual.... more...

MalaCards: X-Linked Disease is related to menkes disease and chromosomal disease. An important gene associated with X-Linked Disease is TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast)). The compounds acetyl-l-carnitine and hind iii have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone, and related mouse phenotypes are growth/size and nervous system.

Disease Ontology:8 A monogenic disease that has material basis in muations on the x chromosome.

Aliases & Classifications for X-Linked Disease

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8Disease Ontology, 10DISEASES
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Aliases & Descriptions:

x-linked disease 8 10


External Ids:

Disease Ontology8 DOID:0050735

Related Diseases for X-Linked Disease

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to X-Linked Disease:



Diseases related to x-linked disease

Clinical Features for X-Linked Disease

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Drugs & Therapeutics for X-Linked Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for X-Linked Disease

Drug clinical trials:

Search ClinicalTrials for X-Linked Disease

Search NIH Clinical Center for X-Linked Disease

Search CenterWatch for X-Linked Disease

Genetic Tests for X-Linked Disease

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Anatomical Context for X-Linked Disease

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32MalaCards
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MalaCards organs/tissues related to X-Linked Disease:

32
T cells, B cells, Bone, Testes, Nk cells, Bone marrow, Liver, Kidney, Brain, Heart, Skin, Pancreas, Lung

Animal Models for X-Linked Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to X-Linked Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.9PDHA1, AFF2, CHM, ZFX, GJB1, OTC
2MP:00036317.4OTC, IDS, PDHA1, AFF2, CHM, ZFX
3MP:00107687.1F9, IDS, PDHA1, AFF2, CHM, ZFX

Publications for X-Linked Disease

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50PubMed
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Articles related to X-Linked Disease:

(show top 50)    (show all 453)
idTitleAuthorsYear
1
Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem cell transplantation. (23826567)
2013
2
The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease: A Transient Disorder of Children and Young Adults. (23400245)
2013
3
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? (22771394)
2012
4
Autoimmunity in X-linked agammaglobulinemia: Kawasaki disease and review of the literature. (22288453)
2012
5
Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodegenerative disease. (21951217)
2011
6
Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties. (21604087)
2011
7
An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma. (19906447)
2010
8
Successful hematopoietic stem cell transplantation in 2 children with X-linked chronic granulomatous disease from their unaffected HLA-identical siblings selected using preimplantation genetic diagnosis combined with HLA typing. (19835970)
2010
9
Increased lymphocyte viability after non-stimulated peripheral blood mononuclear cell (PBMC) culture in patients with X-linked lymphoproliferative disease (XLP). (19576857)
2009
10
A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. (19729836)
2009
11
Effect of splice-site mutations in X-linked chronic granulomatous disease. (20664714)
2009
12
Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. (16720617)
2006
13
Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. (16620288)
2006
14
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521245)
2005
15
Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. (15538631)
2005
16
The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. (15272897)
2004
17
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. (15006706)
2004
18
X-linked Charcot-Marie-Tooth disease with myokymia: report of a family. (14652447)
2003
19
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. (12185164)
2002
20
A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. (11738868)
2001
21
NTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked Lymphoproliferative disease. (11489943)
2001
22
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. (11438988)
2001
23
Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease. (10725815)
2000
24
Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. (10691868)
2000
25
A phenotype map of the mouse X chromosome: models for human X-linked disease. (10720569)
2000
26
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. (10646523)
2000
27
Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. (10373326)
1999
28
Transient association of the nicotinamide adenine dinucleotide phosphate oxidase subunits p47phox and p67phox with phagosomes in neutrophils from patients with X-linked chronic granulomatous disease. (10233905)
1999
29
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). (10556288)
1999
30
Transcription map of Xq27: candidates for several X-linked diseases. (10198160)
1999
31
Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. (9592087)
1998
32
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. (9774102)
1998
33
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
1996
34
Nephrocalcinosis in X-linked hypophosphatemia: effect of treatment versus disease. (7794712)
1995
35
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. (7477983)
1995
36
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (7795648)
1995
37
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). (8575751)
1995
38
Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high- affinity IL-2 receptor binding. (8299698)
1994
39
X chromosome inactivation and the diagnosis of X linked disease in females. (8097254)
1993
40
Cytochrome b positive X-linked chronic granulomatous disease: a normal cell surface expression of cytochrome b. (1323464)
1992
41
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (2018058)
1991
42
Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. (2299506)
1990
43
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome. (1976460)
1990
44
Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease. (2354117)
1990
45
Comparison of direct and indirect methods of carrier detection in an X-linked disease. (1970704)
1990
46
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy. (2468817)
1988
47
Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. (3386829)
1988
48
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. (7195507)
1981
49
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. (7205900)
1980
50
X-linked ichthyosis: a metabolic disease. (160423)
1979

Genetic Variations for X-Linked Disease

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Expression for genes affiliated with X-Linked Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with X-Linked Disease

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Pathways for genes affiliated with X-Linked Disease

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Compounds for genes affiliated with X-Linked Disease

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to X-Linked Disease according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1acetyl-l-carnitine4410.1OTC, PDHA1
2hind iii4410.0OTC, IDS
3bamhi449.9OTC, F9
4Pyruvic acid11 2410.8SLC16A2, PDHA1
5gamma-carboxyglutamic acid449.8GLA, F9
6dextran449.7GLA, F9
7chloramphenicol44 2 1111.4F9, PDHA1, OTC
8dermatan sulfate449.3IDS, F9
9glutamate449.0OTC, GJB1, GLA, F9
10cysteine448.9F9, IDS, PDHA1, CHM, GJB1
11arginine448.9F9, GLA, GJB1, OTC

GO Terms for genes affiliated with X-Linked Disease

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Products for genes affiliated with X-Linked Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet