KD
MCID: SPN066
MIFTS: 44

Spinal-Bulbar Muscular Atrophy (KD) malady

Immune, Muscle categories

Summaries for Spinal-Bulbar Muscular Atrophy

Sources:
21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).

MalaCards: Spinal-Bulbar Muscular Atrophy, also known as spinal and bulbar muscular atrophy, is related to muscular atrophy and x-linked spinal-bulbar muscle atrophy. An important gene associated with Spinal-Bulbar Muscular Atrophy is AR (androgen receptor), and among its related pathways are Integrin Pathway and TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition). The compounds estrogen and pge2 have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and spinal cord.

Wikipedia:64 Muscle atrophy is defined as a decrease in the mass of the muscle; it can be a partial or complete... more...

GeneReviews summary for kennedy

Aliases & Classifications for Spinal-Bulbar Muscular Atrophy

Sources:
64Wikipedia, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune, Muscle


Aliases & Descriptions:

spinal-bulbar muscular atrophy 64
spinal and bulbar muscular atrophy 19 20 21
kennedy's disease 19 21
sbma 19 21
spinal and bulbar muscular atrophy, x-linked 1 61
x-linked spinal and bulbar muscular atrophy 21
kennedy spinal and bulbar muscular atrophy 21
x-linked spinalbulbar muscular atrophy 19
bulbospinal muscular atrophy, x-linked 21
mucocutaneous lymph node syndrome 61
atrophy, muscular, spinobulbar 61
kennedy disease 21
kd 21


Related Diseases for Spinal-Bulbar Muscular Atrophy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Spinal-Bulbar Muscular Atrophy:



Diseases related to spinal-bulbar muscular atrophy

Clinical Features for Spinal-Bulbar Muscular Atrophy

Drugs & Therapeutics for Spinal-Bulbar Muscular Atrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Spinal-Bulbar Muscular Atrophy

Drug clinical trials:

Search ClinicalTrials for Spinal-Bulbar Muscular Atrophy

Search NIH Clinical Center for Spinal-Bulbar Muscular Atrophy

Search CenterWatch for Spinal-Bulbar Muscular Atrophy

Genetic Tests for Spinal-Bulbar Muscular Atrophy

Sources:
20GeneTests
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Genetic tests related to Spinal-Bulbar Muscular Atrophy:

id Genetic test Affiliating Genes
1 Spinal And Bulbar Muscular Atrophy20 AR

Anatomical Context for Spinal-Bulbar Muscular Atrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Spinal-Bulbar Muscular Atrophy:

33
Skin, Tongue, Spinal cord, Brain, Lymph node, Heart, Skeletal muscle, Prostate

Animal Models for Spinal-Bulbar Muscular Atrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Spinal-Bulbar Muscular Atrophy

Sources:
51PubMed
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Articles related to Spinal-Bulbar Muscular Atrophy:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
Spinal and bulbar muscular atrophy: pathogenesis and clinical management. (23656576)
2014
2
Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan. (23787009)
2013
3
Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block. (23643309)
2013
4
Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. (23393146)
2013
5
Mechanisms mediating spinal and bulbar muscular atrophy: investigations into polyglutamine-expanded androgen receptor function and dysfunction. (23720649)
2013
6
Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy's disease): a pilot study of PET. (24120273)
2013
7
FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. (23062703)
2013
8
Postural leg tremor in X-linked spinal and bulbar muscular atrophy. (24256885)
2013
9
Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease. (24200287)
2013
10
Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
2012
11
Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA). (22476656)
2012
12
A case of spinal and bulbar muscular atrophy with high-stage and high-Gleason Score prostate cancer responded to maximal androgen blockade therapy. (21940987)
2012
13
Testosterone treatment fails to accelerate disease in a transgenic mouse model of spinal and bulbar muscular atrophy. (21954065)
2012
14
Complications after cardiovascular surgery in a case of undiagnosed spinal-bulbar muscular atrophy (Kennedy disease). (22381992)
2012
15
Disruption of nongenomic testosterone signaling in a model of spinal and bulbar muscular atrophy. (22570336)
2012
16
Difference in chronological changes of outcome measures between untreated and placebo-treated patients of spinal and bulbar muscular atrophy. (21952871)
2012
17
Molecular pathophysiology and disease-modifying therapies for spinal and bulbar muscular atrophy. (22158719)
2012
18
Teaching Video NeuroImages: spinal and bulbar muscular atrophy mimicking essential tremor. (22311934)
2012
19
Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy. (22952056)
2012
20
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. (21216197)
2011
21
B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. (20336775)
2010
22
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial. (20691641)
2010
23
Proteasomal and autophagic degradative activities in spinal and bulbar muscular atrophy. (20621188)
2010
24
Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA). (20687495)
2010
25
Renewed hope for treatment of spinal and bulbar muscular atrophy? (20691640)
2010
26
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. (19259967)
2009
27
Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy. (19279159)
2009
28
Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy. (19670325)
2009
29
Recovery of function in a myogenic mouse model of spinal bulbar muscular atrophy. (19211034)
2009
30
Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). (19171827)
2009
31
Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy. (19399234)
2009
32
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. (18321505)
2008
33
Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? (18775514)
2008
34
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. (17854832)
2008
35
Animal models of neurodegenerative diseases on the road to disease-modifying therapy: spinal and bulbar muscular atrophy]. (18210842)
2007
36
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker. (16358333)
2006
37
Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. (16621916)
2006
38
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. (15851746)
2005
39
A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy]. (15924079)
2005
40
Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. (15152038)
2004
41
A mouse model of spinal and bulbar muscular atrophy. (12189162)
2002
42
Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy. (11875046)
2002
43
Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease). (10639619)
2000
44
In vitro aggregation and cellular toxicity of mutant androgen receptor protein in spinal and bulbar muscular atrophy]. (10222782)
1999
45
Transcriptional regulation and subcellular localization of mutant androgen receptor in spinal and bulbar muscular atrophy]. (10222781)
1999
46
Transcriptional activation by the androgen receptor in X-linked spinal and bulbar muscular atrophy. (8902713)
1996
47
Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). (7852512)
1995
48
Exonic trinucleotide repeats and expression of androgen receptor gene in spinal cord from X-linked spinal and bulbar muscular atrophy. (7515106)
1994
49
Spinal and Bulbar Muscular Atrophy (20301508)
1993
50
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. (8252045)
1993

Genetic Variations for Spinal-Bulbar Muscular Atrophy

Expression for genes affiliated with Spinal-Bulbar Muscular Atrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinal-Bulbar Muscular Atrophy

Search GEO for disease gene expression data for Spinal-Bulbar Muscular Atrophy.

Pathways for genes affiliated with Spinal-Bulbar Muscular Atrophy

Sources:
52QIAGEN, 54Reactome, 53R&D Systems, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Spinal-Bulbar Muscular Atrophy

Sources:
45Novoseek, 29IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Spinal-Bulbar Muscular Atrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7CHKB
2pge24510.6TGFB1
3saponins4510.3CS, CHKB
4coq104510.2CHKB, HTT, CS
5linuron4510.2AR, LYVE1
6procymidone4510.2AR, LYVE1
7polyglycine4510.2LYVE1, AR
8mibolerone45 2911.1LYVE1, AR
9r18814510.1AR, LYVE1
10succinate4510.0CHKB, CS, HTT
11chloramphenicol45 2 1112.0CS, LYVE1
12theophylline45 29 11 2412.9CHKB, HSPA8, TGFB1
13levodopa45 1110.8CS, CHKB, AR
14steroidal459.8FDXR, AR, LYVE1
15adp45 29 2411.8HTT, CHKB, CS, HSPA8
164-hydroxynonenal45 2410.8CS, HSPA8, TGFB1
17vitamin d459.6CHKB, TGFBR2, HSPA8, TGFB1, AR
18agarose459.6TGFBR2, HSPA8, DMPK, CHKB, TGFB1
19polyacrylamide459.6CHKB, ATXN3, AREG, HSPA8
20n acetylcysteine459.6AREG, HSPA8, CHKB, AR
21steroid459.6AR, CHKB, FDXR, LYVE1
22tamoxifen45 50 29 1112.5CHKB, TGFB1, AR, TGFBR2
23cyclosporin a45 29 6011.5HSPA8, TGFB1, TGFBR2, CHKB, CS
24adenylate459.5AR, CS, TGFBR2, CHKB, HSPA8
25lactate459.5CHKB, HSPA8, CS, TGFB1, HTT
26creatinine459.5HTT, HSPA8, CHKB, CS, TGFB1
27dexamethasone45 50 29 1112.5AREG, AR, TGFBR2, TGFB1, CS
28cl-4as-1609.4AREGB, AREG, SACS, AR, FDXR
29nilutamide45 60 29 1112.4AR, FDXR, AREG, AREGB, SACS
30ascorbic acid45 2410.4AR, CHKB, MCRS1, CS
31paraffin459.4HSPA8, AR, CHKB, LYVE1, TGFB1
32glutamate459.3HTT, TGFBR2, CHKB, AR, HSPA8, CS
33superoxide45 2410.3CS, HSPA8, CHKB, HTT, FDXR, RAN
34polysaccharide459.3AR, TGFB1, CHKB, AREG
35cholesterol45 29 11 2412.2FDXR, CHKB, CS, HSPA8, HTT, TGFBR2
36atp45 2910.1RAN, HSPA8, CS, DMPK, CHKB, HTT
37oxygen45 2410.0HTT, CHKB, FDXR, RAN, CS, HSPA8
38dihydrotestosterone45 29 11 2412.0TGFB1, AREG, AR, CHKB, LYVE1, TGFBR2
39flutamide45 60 1110.9LYVE1, FDXR, AR, AREG, AREGB, SACS
40bicalutamide45 60 1110.9LYVE1, FDXR, AR, AREG, AREGB, SACS
41glucose458.8DMPK, HSPA8, CS, HTT, CHKB, TGFBR2
42progesterone45 60 29 11 2412.8FDXR, AR, LYVE1, AREG, HSPA8, TGFBR2
43vegf458.7AREG, AR, TGFB1, TGFBR2, LYVE1, CHKB
44cysteine458.7CHKB, HTT, HSPA8, TGFBR2, RAN, ATXN3
45serine458.7HSPA8, CS, TGFB1, TGFBR2, DMPK, AR
46alanine458.6RAN, TGFB1, HSPA8, CS, TGFBR2, LYVE1
47oligonucleotide458.4TGFBR2, HSPA8, DMPK, RAN, AREG, HTT
48calcium45 50 11 2410.5CHERP, TGFBR2, HSPA8, CS, HTT, AREG
49glutamine457.1TGFBR2, CHERP, DCTN1, ATXN3, AR, HTT
50testosterone45 60 11 249.8AREG, CHKB, LYVE1, FDXR, CHERP, HSPA8

GO Terms for genes affiliated with Spinal-Bulbar Muscular Atrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Spinal-Bulbar Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:0424059.9ATXN1, ATXN3
2axonGO:0304249.5TGFB1, AR, HTT, SACS
3cytoplasmGO:0057376.7SACS, HTT, AR, ATXN3, ATXN1, DCTN1

Biological processes related to Spinal-Bulbar Muscular Atrophy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1common-partner SMAD protein phosphorylationGO:00718210.1TGFBR2, TGFB1
2response to cholesterolGO:07072310.0TGFB1, TGFBR2
3regulation of sodium ion transportGO:00202810.0TGFB1, DMPK
4myeloid dendritic cell differentiationGO:0430119.9TGFB1, TGFBR2
5pathway-restricted SMAD protein phosphorylationGO:0603899.6TGFB1, TGFBR2
6hyaluronan catabolic processGO:0302149.6TGFB1, LYVE1
7cell deathGO:0082199.5DCTN1, ATXN1, ATXN3, AR, SACS
8cellular calcium ion homeostasisGO:0068749.2DMPK, CHERP, TGFB1

Molecular functions related to Spinal-Bulbar Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055155.9TGFB1, HTT, AREGB, AR, DMPK, ATXN3

Products for genes affiliated with Spinal-Bulbar Muscular Atrophy

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Sources for Spinal-Bulbar Muscular Atrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet