SMAX1
MCID: SPN404
MIFTS: 61

Spinal and Bulbar Muscular Atrophy, X-Linked 1 (SMAX1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spinal and Bulbar Muscular Atrophy, X-Linked 1

MalaCards integrated aliases for Spinal and Bulbar Muscular Atrophy, X-Linked 1:

Name: Spinal and Bulbar Muscular Atrophy, X-Linked 1 57
Kennedy Disease 57 12 76 53 25 59 75 55
Spinal and Bulbar Muscular Atrophy 57 76 24 53 25 75 37
Sbma 57 12 24 53 25 59 75
X-Linked Spinal and Bulbar Muscular Atrophy 12 53 25 54 59
Kennedy's Disease 12 25 54 15
Kd 57 25 75 3
Kennedy Spinal and Bulbar Muscular Atrophy 57 25 75
Spinobulbar Muscular Atrophy 12 53 55
Smax1 57 59 75
Spinal and Bulbar Muscular Atrophy of Kennedy 57 13
Bulbospinal Neuronopathy, X-Linked Recessive 57 73
Bulbospinal Muscular Atrophy, X-Linked 57 25
X-Linked Bulbospinal Amyotrophy 53 59
Bulbo-Spinal Atrophy, X-Linked 44 73
Bulbo-Spinal Atrophy X-Linked 29 6
Bulbospinal Muscular Atrophy 53 54
Xbsn 57 75
Bulbospinal Neuronopathy, X-Linked Recessive; Xbsn 57
Atrophy, Muscular, Spinal and Bulbar, Kennedy Type 40
Spinal and Bulbar Muscular Atrophy X-Linked 1 75
Bulbospinal Neuronopathy X-Linked Recessive 75
Spinal and Bulbar Muscular Atrophy; Sbma 57
X-Linked Spinalbulbar Muscular Atrophy 24
X-Linked Bulbospinal Muscular Atrophy 59
Bulbospinal Muscular Atrophy X-Linked 75
Spinal Bulbar Muscular Atrophy 12
Atrophy, Muscular, Spinobulbar 73
X-Linked Bulbo-Spinal Atrophy 12
Bulbospinal Neuronopathy 73
Kennedy Disease; Kd 57
Kennedy Syndrome 55
Kennedy Disease) 6
X-Linked Bsma 59

Characteristics:

Orphanet epidemiological data:

59
kennedy disease
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Italy),1-9/100000 (Italy); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
prevalence of 1 in 40,000
slow progression
onset usually between 30 and 50 years of age
mild symptoms may occur in teenage years
childhood onset has been reported
allelic disorder to androgen insensitivity syndrome (ais, )

Inheritance:
x-linked recessive


HPO:

32
spinal and bulbar muscular atrophy, x-linked 1:
Onset and clinical course adult onset slow progression
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Spinal and Bulbar Muscular Atrophy, X-Linked 1

NINDS : 54 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. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.

MalaCards based summary : Spinal and Bulbar Muscular Atrophy, X-Linked 1, also known as kennedy disease, is related to dentatorubral-pallidoluysian atrophy and machado-joseph disease, and has symptoms including tremor, facial paresis and muscular fasciculation. An important gene associated with Spinal and Bulbar Muscular Atrophy, X-Linked 1 is AR (Androgen Receptor), and among its related pathways/superpathways are Akt Signaling and Neuroscience. The drugs Goserelin and Antineoplastic Agents, Hormonal have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tongue, and related phenotypes are muscular hypotonia and dysarthria

Disease Ontology : 12 A spinal muscular dystrophy that has material basis in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.

Genetics Home Reference : 25 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).

NIH Rare Diseases : 53 Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60. Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways. Affected people may also have gynecomastia, testicular atrophy (reduction in size or function of the testes), and reduced fertility as a result of mild androgen insensitivity. Kennedy disease is caused by a mutation in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner. Treatment may include physiotherapy and rehabilitation; medications to alleviate tremor and muscle cramps; and hormone therapy or surgical treatment for gynecomastia.

OMIM : 57 Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; 253300). (313200)

UniProtKB/Swiss-Prot : 75 Spinal and bulbar muscular atrophy X-linked 1: An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy.

Wikipedia : 76 Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy''s disease, is a progressive... more...

GeneReviews: NBK1333

Related Diseases for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Diseases related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 dentatorubral-pallidoluysian atrophy 30.5 ATXN3 ATXN7 HTT
2 machado-joseph disease 30.2 ATXN1 ATXN3 ATXN7 HTT
3 spinocerebellar ataxia 1 29.8 AR ATXN1 ATXN3 ATXN7 HTT
4 autosomal dominant cerebellar ataxia 29.7 ATXN1 ATXN3 ATXN7 FMR1 HTT
5 amyotrophic lateral sclerosis 1 29.7 CREBBP DNAJB2 HSPB8 HTT SOD1
6 huntington disease 29.2 ATXN1 ATXN3 CREBBP HTT SOD1
7 foster-kennedy syndrome 12.3
8 kawasaki disease 11.9
9 kniest dysplasia 11.7
10 krabbe disease 11.5
11 spinal atrophy ophthalmoplegia pyramidal syndrome 11.3
12 yt blood group antigen 11.0
13 malignant hyperthermia 1 11.0
14 muscular atrophy 10.9
15 tremor 10.4
16 prostate cancer 10.3
17 motor neuron disease 10.2
18 myoclonus 10.1
19 hepatitis 10.1
20 spinocerebellar ataxia 18 10.1 ATXN3 ATXN7
21 arthrogryposis, distal, type 9 10.1
22 myotonic dystrophy 1 10.1
23 myasthenia gravis 10.1
24 liver disease 10.1
25 spinal muscular atrophy 10.1
26 brugada syndrome 10.1
27 nonalcoholic fatty liver disease 10.1
28 gynecomastia 10.1
29 lateral sclerosis 10.1
30 myopathy 10.1
31 essential tremor 10.1
32 fatty liver disease 10.1
33 myotonic dystrophy 10.1
34 myasthenia gravis congenital 10.1
35 myotonia atrophica 10.1
36 myotonia 10.1
37 neuroblastoma 10.1
38 dermatitis 10.1
39 spinocerebellar ataxia 6 10.1 ATXN3 ATXN7
40 spinocerebellar ataxia 17 10.1 ATXN3 ATXN7
41 cicatricial pemphigoid 10.0
42 bullous pemphigoid 10.0
43 spinocerebellar ataxia 2 10.0 ATXN3 ATXN7
44 breast cancer 10.0
45 nervous system disease 10.0 ATXN3 HTT SOD1
46 central nervous system disease 10.0 ATXN3 HTT SOD1
47 primary cerebellar degeneration 10.0 ATXN1 ATXN3
48 dermatitis, atopic 10.0
49 leukemia 10.0
50 hepatitis c 10.0

Graphical network of the top 20 diseases related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:



Diseases related to Spinal and Bulbar Muscular Atrophy, X-Linked 1

Symptoms & Phenotypes for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
fasciculations
bulbar weakness
atrophy and weakness of the tongue, jaw, and throat muscles
more
Genitourinary External Genitalia Male:
testicular atrophy

Neurologic Peripheral Nervous System:
hyporeflexia
decreased sensory nerve action potentials
peripheral sensory neuropathy, mild

Laboratory Abnormalities:
increased serum creatine kinase
decreased or increased serum testosterone
abnormal lipid profile

Head And Neck Face:
weakness of the facial muscles

Abdomen Gastrointestinal:
dysphagia
choking

Endocrine Features:
decreased fertility

Chest Breasts:
gynecomastia

Muscle Soft Tissue:
muscle biopsy shows neurogenic atrophy
muscle cramping
secondary myopathic features
calf hypertrophy (uncommon)

Head And Neck Mouth:
atrophy and weakness of the tongue, jaw, and throat muscles


Clinical features from OMIM:

313200

Human phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 dysphonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001618
5 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
6 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 testicular atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000029
8 abnormality of lipid metabolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0003119
9 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
10 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
11 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
12 erectile abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0100639
13 tremor 32 HP:0001337
14 dysphagia 32 HP:0002015
15 elevated serum creatine phosphokinase 32 HP:0003236
16 abnormality of movement 59 Very frequent (99-80%)
17 sensory neuropathy 32 HP:0000763
18 peripheral neuropathy 32 HP:0009830
19 abnormality of the mouth 32 HP:0000153
20 muscle cramps 32 HP:0003394
21 fasciculations 32 HP:0002380
22 limb muscle weakness 32 HP:0003690
23 calf muscle hypertrophy 32 HP:0008981
24 bulbar palsy 32 HP:0001283

UMLS symptoms related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:


tremor, facial paresis, muscular fasciculation, muscle cramp

GenomeRNAi Phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 ATXN3 ATXN7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.72 SOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.72 ATXN3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.72 SOD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.72 ATXN3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 ATXN3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.72 ATXN3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.72 SOD1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.72 ATXN7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.72 SOD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.72 ATXN3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.72 ATXN7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.72 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.72 SOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 ATXN7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.72 SOD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.72 ATXN3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.72 ATXN3 ATXN7 SOD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 SOD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 ATXN7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 ATXN3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 ATXN3

MGI Mouse Phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1
2 growth/size/body region MP:0005378 9.92 AR ATXN1 ATXN7 CREBBP FMR1 HSP90AA1
3 nervous system MP:0003631 9.76 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1
4 muscle MP:0005369 9.73 AR ATXN1 ATXN7 CREBBP HSPB8 SOD1
5 reproductive system MP:0005389 9.43 AR ATXN7 FMR1 HSP90AA1 HTT SOD1
6 skeleton MP:0005390 9.17 AR ATXN1 ATXN7 CREBBP HSP90AA1 HTT

Drugs & Therapeutics for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Drugs for Spinal and Bulbar Muscular Atrophy, X-Linked 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Goserelin Approved Phase 4 65807-02-5 47725 5311128
2 Antineoplastic Agents, Hormonal Phase 4,Phase 2
3
Dutasteride Approved, Investigational Phase 2 164656-23-9 6918296 152945
4
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
5
Testosterone Approved, Investigational Phase 2 58-22-0 6013
6
Methyltestosterone Approved Phase 2 58-18-4 6010
7
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
8
Testosterone enanthate Approved Phase 2 315-37-7 9416
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
10 Steroid Synthesis Inhibitors Phase 2
11 Hormone Antagonists Phase 2
12 Hormones Phase 2
13 5-alpha Reductase Inhibitors Phase 2
14 Androgens Phase 2
15 Testosterone 17 beta-cypionate Phase 2
16 Anabolic Agents Phase 2
17 Fertility Agents Phase 2
18 Liver Extracts

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
2 Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA) Completed NCT00303446 Phase 2 Dutasteride;Placebo
3 Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02024932 Phase 2 BVS857;Placebo
4 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
5 Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
6 MRI in Patients With Kennedy Disease Completed NCT02501395
7 High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02156141 Not Applicable
8 Specified Drug-Use Survey of Leuprorelin Acetate Injection Kit 11.25 mg "All-Case Investigation: Spinal and Bulbar Muscular Atrophy (SBMA)" Recruiting NCT03555578 Leuprorelin Acetate
9 Acoustic and Perceptual Markers of Dysarthria in Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT03560661
10 Study of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy Recruiting NCT02124057
11 Combination of Multiparametric MRI and Electrophysiology for the Development of New Biomarkers in Spinal Cord Diseases Active, not recruiting NCT02885870 Not Applicable

Search NIH Clinical Center for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Cochrane evidence based reviews: bulbo-spinal atrophy, x-linked

Genetic Tests for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Genetic tests related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

# Genetic test Affiliating Genes
1 Bulbo-Spinal Atrophy X-Linked 29 AR

Anatomical Context for Spinal and Bulbar Muscular Atrophy, X-Linked 1

MalaCards organs/tissues related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

41
Spinal Cord, Brain, Tongue, Skin, Testes, Liver, Skeletal Muscle

Publications for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Articles related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:

(show all 49)
# Title Authors Year
1
A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion. ( 28877561 )
2018
2
The black pearl of the ocean: Kennedy disease. ( 30504603 )
2018
3
Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy. ( 28473226 )
2017
4
Kennedy disease with difficulty in differential diagnosis: A case report. ( 28489755 )
2017
5
Kennedy Disease Misdiagnosed as Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes (POEMS) Syndrome: A Case Report. ( 26618536 )
2016
6
Very late-onset Sandhoff disease presenting as Kennedy disease. ( 26769462 )
2015
7
Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease). ( 26428534 )
2015
8
Teaching video NeuroImages: hand tremor, tongue and perioral fasciculation in a patient with Kennedy disease. ( 25754809 )
2015
9
[Investigation of a family with Kennedy disease by genetic analysis]. ( 25449081 )
2014
10
Kennedy disease with biphasic clinical course and rapid progression. ( 24872216 )
2014
11
Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases. ( 24894177 )
2014
12
Kennedy disease misdiagnosed as polymyositis: a case report. ( 24073646 )
2013
13
[Kennedy disease in Peru: first cases with molecular diagnosis]. ( 23949524 )
2013
14
A role for androgen reduction treatment in Kennedy disease? ( 23408598 )
2013
15
Changes of pituitary gland volume in Kennedy disease. ( 23744686 )
2013
16
Complications after cardiovascular surgery in a case of undiagnosed spinal-bulbar muscular atrophy (Kennedy disease). ( 22381992 )
2012
17
Goserelin cannot improve the weakness of a patient with kennedy disease after 40-week administration. ( 23121864 )
2012
18
Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease). ( 22006688 )
2011
19
[Clinical and genetic analysis of a pedigree of Kennedy disease]. ( 21984161 )
2011
20
Clarifying variability of corticomotoneuronal function in kennedy disease. ( 21698646 )
2011
21
Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy. ( 20886071 )
2010
22
Decreased cortical somatosensory finger representation in X-linked recessive bulbospinal neuronopathy (Kennedy disease): a magnetoencephalographic study. ( 19187481 )
2010
23
Determinants of double discharges in amyotrophic lateral sclerosis and Kennedy disease. ( 19775935 )
2009
24
Abnormal eye movements in Kennedy disease. ( 19398709 )
2009
25
Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. ( 19692580 )
2009
26
Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). ( 19171827 )
2009
27
Proton magnetic resonance spectroscopy in Kennedy disease. ( 19019384 )
2009
28
Dysphagia in X-linked bulbospinal muscular atrophy (Kennedy disease). ( 19616433 )
2009
29
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. ( 18321505 )
2008
30
Kennedy disease mimics amyotrophic lateral sclerosis: a case report. ( 18686649 )
2008
31
Men with Kennedy disease have a reduced risk of androgenetic alopecia. ( 17596176 )
2007
32
Low yield in screening patients with sporadic motor neuron disease for Kennedy disease. ( 17908088 )
2007
33
Widespread white matter changes in Kennedy disease: a voxel based morphometry study. ( 17332050 )
2007
34
Hyperestrogenemia simulating kennedy disease. ( 18090681 )
2007
35
Pathophysiologic insights into motor axonal function in Kennedy disease. ( 17984450 )
2007
36
Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. ( 16981011 )
2006
37
Animal models of Kennedy disease. ( 16389310 )
2005
38
Kennedy disease: insights and questions. ( 15096414 )
2004
39
Kennedy disease: avoiding misdiagnosis. ( 12810497 )
2003
40
Proton MRS in Kennedy disease: absolute metabolite and macromolecular concentrations. ( 12203763 )
2002
41
Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. ( 12221177 )
2002
42
X-linked bulbospinal neuronopathy: Kennedy disease. ( 12470181 )
2002
43
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world. ( 11436124 )
2001
44
Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. ( 11949733 )
2001
45
Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease. ( 9818876 )
1998
46
Kennedy disease. ( 9211187 )
1997
47
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. ( 8867070 )
1996
48
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. ( 7702080 )
1995
49
Kennedy disease in an Italian kindred. ( 3699069 )
1986

Variations for Spinal and Bulbar Muscular Atrophy, X-Linked 1

ClinVar genetic disease variations for Spinal and Bulbar Muscular Atrophy, X-Linked 1:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 AR NM_000044.4(AR): c.2391G> A (p.Trp797Ter) single nucleotide variant Pathogenic rs137852565 GRCh37 Chromosome X, 66941747: 66941747
2 AR NM_000044.4(AR): c.2391G> A (p.Trp797Ter) single nucleotide variant Pathogenic rs137852565 GRCh38 Chromosome X, 67721905: 67721905
3 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
4 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh38 Chromosome X, 67686030: 67686030
5 AR NM_000044.4(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del) NT expansion Pathogenic rs193922933 GRCh37 Chromosome X, 66765160: 66765162
6 AR NM_000044.4(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del) NT expansion Pathogenic rs193922933 GRCh38 Chromosome X, 67545318: 67545320
7 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
8 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh38 Chromosome X, 67722944: 67722944
9 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
10 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh38 Chromosome X, 67722898: 67722898
11 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh37 Chromosome X, 66765160: 66765162
12 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh38 Chromosome X, 67545318: 67545320
13 AR NM_000044.4(AR): c.231_239delGCAGCAGCA (p.Gln78_Gln80del) deletion Benign/Likely benign rs797045254 GRCh37 Chromosome X, 66765219: 66765227
14 AR NM_000044.4(AR): c.231_239delGCAGCAGCA (p.Gln78_Gln80del) deletion Benign/Likely benign rs797045254 GRCh38 Chromosome X, 67545377: 67545385
15 AR NM_000044.4(AR): c.2257C> T (p.Arg753Ter) single nucleotide variant Pathogenic rs886039558 GRCh37 Chromosome X, 66937403: 66937403
16 AR NM_000044.4(AR): c.2257C> T (p.Arg753Ter) single nucleotide variant Pathogenic rs886039558 GRCh38 Chromosome X, 67717561: 67717561
17 AR NM_000044.4(AR): c.2668G> A (p.Val890Met) single nucleotide variant Pathogenic rs886041133 GRCh37 Chromosome X, 66943588: 66943588
18 AR NM_000044.4(AR): c.2668G> A (p.Val890Met) single nucleotide variant Pathogenic rs886041133 GRCh38 Chromosome X, 67723746: 67723746
19 AR NM_000044.4(AR) undetermined variant Uncertain significance rs193922933 GRCh37 Chromosome X, 66765160: 66765162
20 AR NM_000044.4(AR) undetermined variant Uncertain significance rs193922933 GRCh38 Chromosome X, 67545318: 67545320
21 AR NM_000044.4(AR) NT expansion risk factor GRCh37 Chromosome X, 66765160: 66765162
22 AR NM_000044.4(AR) NT expansion risk factor GRCh38 Chromosome X, 67545318: 67545320
23 AR NM_000044.4(AR) NT expansion Pathogenic GRCh37 Chromosome X, 66765160: 66765162
24 AR NM_000044.4(AR) NT expansion Pathogenic GRCh38 Chromosome X, 67545318: 67545320
25 AR NM_000044.4(AR): c.172_174CAG(7_34) (p.Gln66_Gln80del) NT expansion Benign GRCh37 Chromosome X, 66765160: 66765162
26 AR NM_000044.4(AR): c.172_174CAG(7_34) (p.Gln66_Gln80del) NT expansion Benign GRCh38 Chromosome X, 67545318: 67545320
27 AR NM_000044.4(AR) duplication Benign/Likely benign rs3032358 GRCh37 Chromosome X, 66765201: 66765227
28 AR NM_000044.4(AR) duplication Benign/Likely benign rs3032358 GRCh38 Chromosome X, 67545359: 67545385
29 AR NM_000044.4(AR): c.225_239delGCAGCAGCAGCAGCA (p.Gln76_Gln80del) deletion Benign rs3032358 GRCh38 Chromosome X, 67545371: 67545385
30 AR NM_000044.4(AR): c.225_239delGCAGCAGCAGCAGCA (p.Gln76_Gln80del) deletion Benign rs3032358 GRCh37 Chromosome X, 66765213: 66765227
31 AR NM_000044.4(AR): c.237_239dup (p.Gln80_Glu81insGln) duplication Benign/Likely benign rs3032358 GRCh37 Chromosome X, 66765225: 66765227
32 AR NM_000044.4(AR): c.237_239dup (p.Gln80_Glu81insGln) duplication Benign/Likely benign rs3032358 GRCh38 Chromosome X, 67545383: 67545385
33 AR NM_000044.4(AR): c.1412_1420delGCGGCGGCG (p.Gly471_Gly473del) deletion Benign/Likely benign rs746853821 GRCh38 Chromosome X, 67546558: 67546566
34 AR NM_000044.4(AR): c.1412_1420delGCGGCGGCG (p.Gly471_Gly473del) deletion Benign/Likely benign rs746853821 GRCh37 Chromosome X, 66766400: 66766408
35 AR NM_000044.4(AR): c.1415_1420delGCGGCG (p.Gly472_Gly473del) deletion Likely benign rs746853821 GRCh37 Chromosome X, 66766403: 66766408
36 AR NM_000044.4(AR): c.1415_1420delGCGGCG (p.Gly472_Gly473del) deletion Likely benign rs746853821 GRCh38 Chromosome X, 67546561: 67546566
37 AR NC_000023.11: g.(?_67686010)_(67686126_?)del deletion Pathogenic GRCh38 Chromosome X, 67686010: 67686126
38 AR NC_000023.11: g.(?_67686010)_(67686126_?)del deletion Pathogenic GRCh37 Chromosome X, 66905852: 66905968
39 AR NM_000044.4(AR): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 66765280: 66765280
40 AR NM_000044.4(AR): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 67545438: 67545438
41 AR NM_000044.4(AR): c.1418_1420delGCG (p.Gly473del) deletion Likely benign GRCh37 Chromosome X, 66766406: 66766408
42 AR NM_000044.4(AR): c.1418_1420delGCG (p.Gly473del) deletion Likely benign GRCh38 Chromosome X, 67546564: 67546566
43 AR NM_000044.4(AR): c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) insertion Likely benign GRCh37 Chromosome X, 66765160: 66765161
44 AR NM_000044.4(AR): c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) insertion Likely benign GRCh38 Chromosome X, 67545318: 67545319
45 AR NM_000044.4(AR) duplication Benign/Likely benign GRCh37 Chromosome X, 66765204: 66765227
46 AR NM_000044.4(AR) duplication Benign/Likely benign GRCh38 Chromosome X, 67545362: 67545385
47 AR NM_000044.4(AR): c.2698A> T (p.Ile900Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 66943618: 66943618
48 AR NM_000044.4(AR): c.2698A> T (p.Ile900Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 67723776: 67723776
49 AR NM_000044.4(AR): c.225_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGln) duplication Benign GRCh37 Chromosome X, 66765213: 66765227
50 AR NM_000044.4(AR): c.225_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGln) duplication Benign GRCh38 Chromosome X, 67545371: 67545385

Expression for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Search GEO for disease gene expression data for Spinal and Bulbar Muscular Atrophy, X-Linked 1.

Pathways for Spinal and Bulbar Muscular Atrophy, X-Linked 1

GO Terms for Spinal and Bulbar Muscular Atrophy, X-Linked 1

Cellular components related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.96 AR ATXN1 ATXN3 ATXN7 DNAJB2 FMR1
2 cytoplasm GO:0005737 9.9 AR ATXN1 ATXN3 ATXN7 CREBBP DNAJB2
3 nucleus GO:0005634 9.73 AFF2 AR ATXN1 ATXN3 ATXN7 CREBBP
4 protein-containing complex GO:0032991 9.71 AR HSP90AA1 HTT SOD1
5 nuclear matrix GO:0016363 9.54 ATXN1 ATXN3 ATXN7
6 nuclear inclusion body GO:0042405 9.32 ATXN1 ATXN3
7 nucleoplasm GO:0005654 9.32 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1

Biological processes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.61 AR ATXN3 ATXN7
2 protein destabilization GO:0031648 9.4 CREBBP HTT
3 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.37 AR HTT
4 anterograde axonal transport GO:0008089 9.32 FMR1 SOD1
5 response to antibiotic GO:0046677 9.26 HSP90AA1 SOD1
6 protein refolding GO:0042026 9.16 DNAJB2 HSP90AA1
7 regulation of protein ubiquitination GO:0031396 8.96 DNAJB2 HSP90AA1
8 regulation of cellular response to heat GO:1900034 8.8 CREBBP HSP90AA1 HSPB8

Molecular functions related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 poly(U) RNA binding GO:0008266 9.26 ATXN1 FMR1
2 poly(G) binding GO:0034046 9.16 ATXN1 FMR1
3 identical protein binding GO:0042802 9.1 ATXN1 FMR1 HSP90AA1 HSPB8 HTT SOD1
4 G-quadruplex RNA binding GO:0002151 8.96 AFF2 FMR1
5 protein binding GO:0005515 10.06 AR ATXN1 ATXN3 ATXN7 CREBBP DNAJB2

Sources for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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17 ExPASy
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