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:00053787.9GJB1, ZFX, CHM, AFF2, PDHA1, IDS
2MP:00036317.4IDS, OTC, SLC16A2, GJB1, ZFX, CHM
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
Axonal excitability in X-linked dominant Charcot Marie Tooth disease. (24290847)
2013
2
X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother. (23859418)
2013
3
Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease. (23193493)
2012
4
X-linked Charcot-Marie-Tooth disease. (23279425)
2012
5
Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease. (22341131)
2012
6
Langerhans cell histiocytosis, a new clinical phenotype of x-linked lymphoproliferative disease? (21094704)
2011
7
A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease. (20857133)
2011
8
Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting. (21411759)
2011
9
X-linked chronic granulomatous disease with voriconazole-induced photosensitivity/ photoaging reaction. (20480802)
2010
10
Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. (20472869)
2010
11
Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. (20644117)
2010
12
Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency. (16732583)
2008
13
Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. (18277931)
2008
14
From gene to disease; X-linked adrenoleukodystrophy]. (18491823)
2008
15
Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile. (18846643)
2008
16
Severe X-linked chronic granulomatous disease in two unrelated females. (17089090)
2007
17
Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease: a mimicker of sepsis in the pediatric intensive care unit. (17403820)
2007
18
The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease]. (17646144)
2007
19
Sepsis caused by Veillonella parvula infection in a 17-year-old patient with X-linked agammaglobulinemia (Bruton's disease). (16825407)
2006
20
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. (16582916)
2006
21
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. (16272055)
2005
22
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521243)
2005
23
Long polymerase chain reaction-based fluorescence in situ hybridization analysis of female carriers of X-linked chronic granulomatous disease deletions. (15858141)
2005
24
Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections. (14978696)
2004
25
X-linked chronic granulomatous disease: report of one case. (15493736)
2004
26
Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system. (14691999)
2003
27
von Recklinghausen disease in a patient with X-linked agammaglobulinemia. (12487187)
2002
28
Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. (12447665)
2002
29
Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1). (11393532)
2001
30
Large-scale analysis of sequence tags in Xp11.4-11.3 and evaluation of candidate genes for X-linked ocular diseases. (14564067)
2001
31
Lymphocytic vasculitis in X-linked lymphoproliferative disease. (11133747)
2001
32
X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. (10934222)
2000
33
Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. (10089913)
1999
34
Mutations in the RP2 gene cause disease in 10% of families with familial X-Linked retinitis pigmentosa assessed in this study. (10090907)
1999
35
X-linked Charcot-Marie-Tooth disease and connexin32. (10873293)
1998
36
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. (9566397)
1998
37
Identification of (CA/GT)n polymorphisms within the X-linked chronic granulomatous disease (X-CGD) gene: utility for prenatal diagnosis. (9544160)
1998
38
Connexin32 and X-linked Charcot-Marie-Tooth disease. (9361298)
1997
39
X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease. (8885720)
1996
40
X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. (8636252)
1996
41
A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. (7756659)
1995
42
Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. (8387453)
1993
43
X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox. (8400270)
1993
44
Menkes disease: an X-linked neurological disorder of the copper metabolism. (1341968)
1992
45
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. (3600768)
1987
46
DNA probes and carriers of X-linked disease. (6128523)
1982
47
Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. (610422)
1977
48
Stability of AMP:pyrophosphate phosphoribosyltransferase, an autosomally determined enzyme in an X-linked disease. Identification of a destabilizer. (4652560)
1972
49
Lyon hypothesis and x-linked disease. (4170678)
1968
50
Biochemical diagnosis of an X-linked disease in utero. (4174524)
1968

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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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