KD
MCID: SPN066
MIFTS: 44

Spinal-Bulbar Muscular Atrophy (KD) malady

Immune diseases, Muscle diseases categories

Summaries for Spinal-Bulbar Muscular Atrophy

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21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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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 prostate cancer. 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 lymph node, brain and spinal cord.

Wikipedia:63 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

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19GeneReviews, 21Genetics Home Reference, 60UMLS, 63Wikipedia, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

spinal-bulbar muscular atrophy 63
spinal and bulbar muscular atrophy 19 20 21
kennedy's disease 19 21
sbma 19 21
spinal and bulbar muscular atrophy, x-linked 1 60
x-linked spinal and bulbar muscular atrophy 21
kennedy spinal and bulbar muscular atrophy 21
bulbospinal muscular atrophy, x-linked 21
x-linked spinalbulbar muscular atrophy 19
mucocutaneous lymph node syndrome 60
atrophy, muscular, spinobulbar 60
kennedy disease 21
kd 21


Related Diseases for Spinal-Bulbar Muscular Atrophy

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17GeneCards, 18GeneDecks
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Diseases related to Spinal-Bulbar Muscular Atrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy31.3AR
2prostate cancer30.6AR, TGFBR2, TGFB1, LYVE1
3myotonic dystrophy type 130.4DMPK
4amyotrophic lateral sclerosis30.4DCTN1, CHKB, HTT
5myotonic dystrophy30.4CHKB, DMPK, HTT
6kennedy's disease30.4AR, HTT
7x-linked spinal-bulbar muscle atrophy30.3LYVE1, AR
8hepatitis c30.2MCRS1
9leukemia30.2TGFB1, AREG, HSPA8, RAN
10breast cancer30.1HSPA8, HTT, AREGB, AREG, AR, RAN
11motor neuron disease30.0AR, DCTN1, HTT
12dentatorubral-pallidoluysian atrophy29.9ATXN3, ATXN1, HTT, AR
13myeloma29.7AREG
14pancreatitis29.7TGFB1
15pancreatic cancer29.7RAN, TGFB1, AREG, TGFBR2
16colon cancer29.7TGFBR2, RAN, AREG, FDXR, HSPA8
17melanoma29.7HSPA8, TGFB1, AREG, CHKB, RAN
18spinal muscular atrophy10.9
19kawasaki disease10.8
20x-linked disease10.6
21coronary aneurysm10.5
22atrophy of prostate10.5
23prostatitis10.5
24spinal cancer10.5
25progressive muscular atrophy10.4
26adult syndrome10.4
27skin atrophy10.3
28lateral sclerosis10.3
29essential tremor10.3
30cerebritis10.3
31gynecomastia10.3
32chromosomal disease10.3
33myasthenia gravis10.3
34neuroblastoma10.3
35hepatitis10.3
36tetralogy of fallot10.3
37mantle cell lymphoma10.3
38rocky mountain spotted fever10.3
39intestinal obstruction10.3
40intestinal pseudo-obstruction10.3
41spotted fever10.3
42uveitis10.3
43hereditary leiomyomatosis and renal cell cancer10.3
44dermatitis10.2
45bullous pemphigoid10.2
46cicatricial pemphigoid10.2
47atopic dermatitis10.1
48hepatitis a10.1
49contact dermatitis10.1
50meningitis10.1

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

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Drugs & Therapeutics for Spinal-Bulbar Muscular Atrophy

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

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Drug clinical trials:

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Search CenterWatch for Spinal-Bulbar Muscular Atrophy

Genetic Tests for Spinal-Bulbar Muscular Atrophy

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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

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32MalaCards
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MalaCards organs/tissues related to Spinal-Bulbar Muscular Atrophy:

32
Lymph node, Brain, Spinal cord, Heart, Skeletal muscle

Animal Models for Spinal-Bulbar Muscular Atrophy or affiliated genes

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Publications for Spinal-Bulbar Muscular Atrophy

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50PubMed
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Articles related to Spinal-Bulbar Muscular Atrophy:

(show all 15)
idTitleAuthorsYear
1
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions. (24041967)
2014
2
Androgen receptors in muscle fibers induce rapid loss of force but not mass: implications for spinal bulbar muscular atrophy. (23629944)
2013
3
FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. (23062703)
2013
4
Complications after cardiovascular surgery in a case of undiagnosed spinal-bulbar muscular atrophy (Kennedy disease). (22381992)
2012
5
Prenatal flutamide enhances survival in a myogenic mouse model of spinal bulbar muscular atrophy. (20689246)
2011
6
Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy. (20886071)
2010
7
Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy. (19670325)
2009
8
Recovery of function in a myogenic mouse model of spinal bulbar muscular atrophy. (19211034)
2009
9
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. (18321505)
2008
10
Natural history of spinal-bulbar muscular atrophy. (18490617)
2008
11
Clinical manifestations and molecular genetics of spinal bulbar muscular atrophy: report of 5 cases]. (17803850)
2007
12
Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy. (15376484)
2004
13
Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy. (11356158)
2001
14
Androgen induced cell death in SHSY5Y neuroblastoma cells expressing wild-type and spinal bulbar muscular atrophy mutant androgen receptors. (11335100)
2001
15
Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease). (10639619)
2000

Genetic Variations for Spinal-Bulbar Muscular Atrophy

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Expression for genes affiliated with Spinal-Bulbar Muscular Atrophy

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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

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51QIAGEN, 53Reactome, 52R&D Systems, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Spinal-Bulbar Muscular Atrophy

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44Novoseek, 28IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris 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
1estrogen4410.7CHKB
2pge24410.6TGFB1
3saponins4410.3CHKB, CS
4coq104410.2CHKB, HTT, CS
5procymidone4410.2LYVE1, AR
6linuron4410.2LYVE1, AR
7polyglycine4410.2LYVE1, AR
8mibolerone44 2811.1AR, LYVE1
9r18814410.1LYVE1, AR
10succinate4410.0CHKB, HTT, CS
11chloramphenicol44 2 1112.0CS, LYVE1
12theophylline44 28 11 2412.9TGFB1, CHKB, HSPA8
13levodopa44 1110.8CHKB, AR, CS
14steroidal449.8AR, FDXR, LYVE1
15adp44 28 2411.8HSPA8, CS, HTT, CHKB
164-hydroxynonenal44 2410.8TGFB1, CS, HSPA8
17vitamin d449.6HSPA8, AR, CHKB, TGFBR2, TGFB1
18polyacrylamide449.6HSPA8, AREG, ATXN3, CHKB
19agarose449.6HSPA8, DMPK, CHKB, TGFBR2, TGFB1
20n acetylcysteine449.6HSPA8, AREG, AR, CHKB
21steroid449.6LYVE1, FDXR, CHKB, AR
22tamoxifen44 49 28 1112.5AR, CHKB, TGFBR2, TGFB1
23cyclosporin a44 28 5911.5HSPA8, CS, CHKB, TGFBR2, TGFB1
24adenylate449.5HSPA8, CS, AR, CHKB, TGFBR2
25lactate449.5HSPA8, CS, HTT, CHKB, TGFB1
26creatinine449.5HSPA8, CS, HTT, CHKB, TGFB1
27dexamethasone44 49 28 1112.5CS, AREG, AR, TGFBR2, TGFB1
28cl-4as-1599.4SACS, AREGB, AREG, AR, FDXR
29nilutamide44 59 28 1112.4SACS, AREGB, AREG, AR, FDXR
30ascorbic acid44 2410.4MCRS1, CHKB, AR, CS
31paraffin449.4HSPA8, AR, CHKB, LYVE1, TGFB1
32glutamate449.3HSPA8, CS, HTT, AR, CHKB, TGFBR2
33superoxide44 2410.3HSPA8, CS, HTT, CHKB, FDXR, RAN
34polysaccharide449.3TGFB1, CHKB, AR, AREG
35cholesterol44 28 11 2412.2HSPA8, CS, HTT, CHKB, FDXR, TGFBR2
36atp44 2810.1HSPA8, CS, HTT, DMPK, CHKB, RAN
37oxygen44 2410.0HSPA8, CS, HTT, CHKB, FDXR, RAN
38dihydrotestosterone44 28 11 2412.0AREG, AR, CHKB, LYVE1, TGFBR2, TGFB1
39flutamide44 59 1110.9SACS, AREGB, AREG, AR, FDXR, LYVE1
40bicalutamide44 59 1110.9SACS, AREGB, AREG, AR, FDXR, LYVE1
41glucose448.8HSPA8, CS, HTT, DMPK, CHKB, LYVE1
42progesterone44 59 28 11 2412.8HSPA8, AREG, AR, FDXR, LYVE1, TGFBR2
43vegf448.7HSPA8, AREG, AR, CHKB, LYVE1, TGFBR2
44cysteine448.7HSPA8, HTT, ATXN3, CHKB, RAN, TGFBR2
45serine448.7HSPA8, CS, HTT, AREG, AR, DMPK
46alanine448.6HSPA8, CS, HTT, CHKB, RAN, LYVE1
47oligonucleotide448.4HSPA8, HTT, AREG, DMPK, RAN, LYVE1
48calcium44 49 11 2410.5HSPA8, CS, HTT, AREG, DMPK, CHERP
49glutamine447.1TGFB1, HSPA8, CS, HTT, AR, ATXN3
50testosterone44 59 11 249.8AREG, AREGB, HTT, SACS, HSPA8, AR

GO Terms for genes affiliated with Spinal-Bulbar Muscular Atrophy

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16Gene Ontology
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Cellular components related to Spinal-Bulbar Muscular Atrophy according to GeneCards/GeneDecks:

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

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

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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