MCID: KNN001
MIFTS: 50

Kennedy's Disease malady

Muscle diseases category

Summaries for Kennedy's Disease

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8Disease Ontology, 43NINDS, 46OMIM, 32MalaCards
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NINDS:43 Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus.

MalaCards: Kennedy's Disease, also known as x-linked spinal and bulbar muscular atrophy, is related to muscular atrophy and x-linked spinal-bulbar muscle atrophy. An important gene associated with Kennedy's Disease is AR (androgen receptor), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds nsc34 and coq10 have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and reproductive system.

Disease Ontology:8 A spinal muscular dystrophy that has material basis in an x-linked recessive mutation of the androgen receptor.

Description from OMIM:46 313200

Aliases & Classifications for Kennedy's Disease

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Sources:
8Disease Ontology, 63Wikipedia, 44Novoseek, 43NINDS, 22GTR, 60UMLS, 46OMIM, 34MeSH
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Classifications:

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


Aliases & Descriptions:

kennedy's disease 8 63
x-linked spinal and bulbar muscular atrophy 8 43
x-linked bulbo-spinal atrophy 8 22
spinobulbar muscular atrophy 8 44
spinal and bulbar muscular atrophy, x-linked 1 60
bulbospinal muscular atrophy, x-linked 63
x-linked spinal-bulbar muscle atrophy 63
atrophy, muscular, spinobulbar 60


External Ids:

Disease Ontology8 DOID:0060161
OMIM46 313200
MeSH34 D055534

Related Diseases for Kennedy's Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Kennedy's Disease:



Diseases related to kennedy's disease

Clinical Features for Kennedy's Disease

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46OMIM
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Clinical features from OMIM:

313200

Drugs & Therapeutics for Kennedy's Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Kennedy's Disease

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22GTR
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Genetic tests related to Kennedy's Disease:

id Genetic test Affiliating Genes
1 Bulbo-Spinal Atrophy X-Linked22

Anatomical Context for Kennedy's Disease

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32MalaCards
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MalaCards organs/tissues related to Kennedy's Disease:

32
Skin, Tongue, Spinal cord, Brain, Breast, Testes

Animal Models for Kennedy's Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Kennedy's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.2CASP3, SOD1, CS, HTT, CLCN1
2MP:00053897.8CASP3, SOD1, HTT, AR, CLCN1, TMF1

Publications for Kennedy's Disease

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50PubMed
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Articles related to Kennedy's Disease:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Structural changes of central white matter tracts in Kennedy's disease - a diffusion tensor imaging and voxel-based morphometry study. (23216624)
2013
2
Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease. (24200287)
2013
3
Myasthenic symptoms in a patient with Kennedy's disease. (23444172)
2013
4
Role of androgen receptor polyQ chain elongation in Kennedy's disease and use of natural osmolytes as potential therapeutic targets. (23024039)
2012
5
Kennedy's disease: clinical significance of tandem repeats in the androgen receptor. (23560310)
2012
6
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. (22919202)
2012
7
Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease). (21808858)
2011
8
Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey. (20184516)
2010
9
Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study. (19343581)
2009
10
Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (19405197)
2009
11
Kennedy's disease and postoperative complications. (19478672)
2009
12
Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease). (18446311)
2008
13
Kennedy's disease: a lower motor neuron model to identify upper motor neuron physiology in ALS. (18308629)
2008
14
Cortical excitability testing distinguishes Kennedy's disease from amyotrophic lateral sclerosis. (18313980)
2008
15
Administration of testosterone results in reversible deterioration in Kennedy's disease. (17056629)
2008
16
Rare association of antisynthetase syndrome and Kennedy's disease. (18592136)
2008
17
Chapter 8 Spinobulbar muscular atrophy (Kennedy's disease). (18808893)
2007
18
Dementia of frontal lobe type in Kennedy's disease. (16319030)
2005
19
X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report. (15830083)
2005
20
Phenotypic variability in Kennedy's disease: implication of the early diagnostic features. (15932358)
2005
21
Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report. (16100985)
2005
22
Use of epidural anaesthesia for surgery in a patient with Kennedy's disease. (14742338)
2004
23
Clinical and electrophysiological features in Chinese patients with Kennedy's disease. (15297006)
2004
24
Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease. (14999487)
2004
25
Bulbospinal muscular atrophy: Kennedy's disease. (15313856)
2004
26
Kennedy's disease. Phosphorylation of the polyglutamine-expanded form of androgen receptor regulates its cleavage by caspase-3 and enhances cell death. (12824190)
2003
27
Fatigue and abnormal neuromuscular transmission in Kennedy's disease. (12548535)
2003
28
Kennedy's Disease Initially Manifesting as an Endocrine Disorder. (19078709)
2003
29
Kennedy's disease. (12777661)
2003
30
Jaw drop in Kennedy's disease. (12427914)
2002
31
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. (12161529)
2002
32
Kennedy's disease: a triplet repeat disorder or a motor neuron disease? (11719252)
2001
33
Dopaminergic pathways involvement in Kennedy's disease: neurophysiological and. (11569904)
2001
34
Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease). (10639619)
2000
35
Androgen receptor mutation in Kennedy's disease. (10434308)
1999
36
Assessment of upper and lower motor neurons in Kennedy's disease: implications for corticomotoneuronal PSTH studies. (10086890)
1999
37
Kennedy's disease: unusual molecular pathologic and clinical features. (9674812)
1998
38
High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed? (9724012)
1998
39
Molecular analysis of the androgen receptor gene in Kennedy's disease. Report of two families and review of the literature. (9010714)
1997
40
CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation. (8737374)
1996
41
Testosterone therapy and the pathogenesis of Kennedy's disease (X-linked bulbospinal muscular atrophy). (8867072)
1996
42
Kennedy's disease: clinical and molecular study of two Italian families. (8749704)
1995
43
CAG repeat length variation in sperm from a patient with Kennedy's disease. (7757084)
1995
44
The expanded trinucleotide repeat in Kennedy's disease. (8624856)
1995
45
Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). (7852512)
1995
46
Trinucleotide repeats in neurologic diseases: an hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I. (8190020)
1994
47
Capillary electrophoresis of polymerase chain reaction-amplified products in polymer networks: the case of Kennedy's disease. (7925243)
1994
48
X-linked bulbospinomuscular atrophy (Kennedy's disease) masquerading as lead neuropathy. (8170488)
1994
49
Kennedy's disease: genetic diagnosis of an inherited form of motor neuron disease. (8517843)
1993
50
Kennedy's disease: clinical presentation and laboratory diagnosis. (7712629)
1993

Genetic Variations for Kennedy's Disease

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Expression for genes affiliated with Kennedy's Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kennedy's Disease

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Pathways for genes affiliated with Kennedy's Disease

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Kennedy's Disease

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Kennedy's Disease according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1nsc344410.3SOD1, AR
2coq104410.0HTT, CS
3procymidone4410.0LYVE1, AR
4linuron4410.0LYVE1, AR
5polyglycine449.9AR, LYVE1
6mibolerone44 2810.9LYVE1, AR
7r1881449.9AR, LYVE1
8levodopa44 1110.9SOD1, CS, AR
9trolox449.8SOD1, CASP3
10hydroxyflutamide44 2810.8LYVE1, AR
11rotenone449.7CS, SOD1, CASP3
12minocycline44 1110.7HTT, CASP3
13resveratrol44 59 11 2412.7AR, SOD1, CASP3
14cyproteroneacetate449.7LYVE1, AR
154-hydroxynonenal44 2410.6CS, SOD1, CASP3
16flutamide44 59 1111.6LYVE1, AR
17quercetin44 59 11 2412.6CASP3, SOD1, AR
18ubiquinone449.5CS, SOD1
19chloramphenicol44 2 1111.2CS, HTT, AR, LYVE1
20lactate449.1CASP3, SOD1, CS, HTT
21h2o2449.1CASP3, SOD1, AR, RAN
22glutamine449.1CS, HTT, AR, LYVE1
23superoxide44 2410.0CASP3, SOD1, CS, HTT, RAN
24arginine449.0SOD1, CS, AR, RAN, LYVE1
25oxygen44 249.8CASP3, SOD1, CS, HTT, RAN
26alanine448.8SOD1, CS, HTT, RAN, LYVE1
27testosterone44 59 11 2411.3HTT, AR, TMF1, LYVE1

GO Terms for genes affiliated with Kennedy's Disease

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16Gene Ontology
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Cellular components related to Kennedy's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.5AR, HTT, SOD1
2inclusion bodyGO:0162349.4DNAJB2, HTT

Biological processes related to Kennedy's Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitochondrial membrane potentialGO:0518819.9HTT, SOD1
2negative regulation of extrinsic apoptotic signaling pathwayGO:20012379.9AR, HTT
3protein import into nucleusGO:0066069.8RAN, HTT
4cell agingGO:0075699.8SOD1, HTT
5apoptotic DNA fragmentationGO:0063099.6SOD1, CASP3
6positive regulation of cytokine productionGO:0018199.5TMF1, SOD1
7neuron apoptotic processGO:0514029.2HTT, CASP3

Products for genes affiliated with Kennedy's Disease

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Sources for Kennedy's 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