SMAX1
MCID: SPN404
MIFTS: 61

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

Categories: Genetic 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 56 37
Kennedy Disease 56 12 74 52 25 58 73 54
Spinal and Bulbar Muscular Atrophy 56 74 24 52 25 73 36
Sbma 56 12 24 52 25 58 73
X-Linked Spinal and Bulbar Muscular Atrophy 12 52 25 53 58
Kennedy's Disease 12 24 25 53 15
Kennedy Spinal and Bulbar Muscular Atrophy 56 25 73
Spinobulbar Muscular Atrophy 12 52 54
Bulbospinal Muscular Atrophy 52 53 58
Smax1 56 58 73
Kd 56 25 73
Spinal and Bulbar Muscular Atrophy of Kennedy 56 13
Bulbospinal Neuronopathy, X-Linked Recessive 56 71
Bulbospinal Muscular Atrophy, X-Linked 56 25
X-Linked Bulbospinal Amyotrophy 52 58
Bulbo-Spinal Atrophy, X-Linked 43 71
Bulbo-Spinal Atrophy X-Linked 29 6
Xbsn 56 73
Bulbospinal Neuronopathy, X-Linked Recessive; Xbsn 56
Atrophy, Muscular, Spinal and Bulbar, Kennedy Type 39
Spinal and Bulbar Muscular Atrophy X-Linked 1 73
Bulbospinal Neuronopathy X-Linked Recessive 73
Spinal and Bulbar Muscular Atrophy; Sbma 56
X-Linked Spinal Bulbar Muscular Atrophy 24
X-Linked Bulbospinal Muscular Atrophy 58
Bulbospinal Muscular Atrophy X-Linked 73
Spinal Bulbar Muscular Atrophy 12
Atrophy, Muscular, Spinobulbar 71
X-Linked Bulbo-Spinal Atrophy 12
Bulbospinal Neuronopathy 71
Kennedy Disease; Kd 56
Kennedy Syndrome 54
Kennedy Disease) 6
X-Linked Bsma 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Miscellaneous:
slow progression
prevalence of 1 in 40,000
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:

31
spinal and bulbar muscular atrophy, x-linked 1:
Onset and clinical course adult onset slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders


External Ids:

Disease Ontology 12 DOID:0060161
OMIM 56 313200
KEGG 36 H00062
NCIt 49 C85233
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C0393547 C0752353 C1839259
UMLS 71 C0393547 C0752353 C1839259 more

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

NINDS : 53 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 lateral sclerosis and motor neuron disease, and has symptoms including tremor, muscular fasciculation and muscle cramp. 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 CCR5 Pathway in Macrophages. The drugs Goserelin and Antineoplastic Agents, Hormonal have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and breast, and related phenotypes are muscular hypotonia and gait disturbance

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). Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).

NIH Rare Diseases : 52 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 : 56 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)

KEGG : 36 Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease that only affects males. SBMA is caused by expansion of CAG trinucleotide repeats in the first exon of the androgen receptor gene. The expansion of encoded polyglutamine tracts results in protein aggregation and is associated with neuronal cell death.

UniProtKB/Swiss-Prot : 73 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 : 74 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 515)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 31.6 SOD1 DCTN1 C9orf72 ATXN2
2 motor neuron disease 31.3 SOD1 HSPA4 DCTN1 C9orf72 AR
3 neuromuscular disease 31.2 SOD1 ERCC6 DCTN1 CRYAA C9orf72 AR
4 x-linked recessive disease 31.0 ERCC6 CRYAA ATXN7 AR
5 progressive muscular atrophy 31.0 SOD1 C9orf72 ATXN2
6 3-methylglutaconic aciduria, type iii 30.8 ERCC6 CRYAA ATXN7 ATN1
7 movement disease 30.6 HTT CACNA1A C9orf72
8 peripheral nervous system disease 30.5 SOD1 ERCC6 CRYAA CACNA1A
9 dentatorubral-pallidoluysian atrophy 30.3 TBP HTT CACNA1A ATXN7 ATXN3 ATXN2
10 progressive bulbar palsy 30.3 SOD1 C9orf72
11 corneal disease 30.1 LYVE1 ERCC6 CRYAA
12 charcot-marie-tooth disease 29.9 SOD1 HTT HDAC6 DCTN1 CRYAA C9orf72
13 dementia 29.8 TBP SOD1 HTT C9orf72 ATXN3 ATXN2
14 huntington disease 29.8 TBP SOD1 MIR196A1 HTT HSPA4 HDAC6
15 spinocerebellar ataxia 1 29.7 TBP HTT CACNA1A ATXN7 ATXN3 ATXN2
16 machado-joseph disease 29.6 TBP HTT HSP90AA1 ERCC6 CACNA1A ATXN7
17 myeloma, multiple 29.6 MIR196A1 HSPA4 HSP90AA1 HDAC6 ERCC6
18 dystonia 29.5 TBP HTT DCTN1 CACNA1A C9orf72 ATXN7
19 amyotrophic lateral sclerosis 1 29.5 SOD1 MIR196A1 HTT HSPA4 HSP90AA1 ERCC6
20 parkinson disease, late-onset 29.4 TBP SOD1 HTT HSPA4 HSP90AA1 DCTN1
21 autosomal dominant cerebellar ataxia 29.0 TBP SOD1 HTT HSPA4 ERCC6 DNAJB1
22 retinitis pigmentosa 28.7 TBP SOD1 HTT HSPA4 HSP90AA1 ERCC6
23 foster-kennedy syndrome 12.7
24 generalized bulbospinal muscular atrophy 12.5
25 bulbospinal muscular atrophy of adult 12.5
26 bulbospinal muscular atrophy of childhood 12.5
27 kawasaki disease 12.3
28 krabbe disease 11.7
29 spinal atrophy ophthalmoplegia pyramidal syndrome 11.5
30 b-lymphoblastic leukemia/lymphoma with bcr-abl1 11.4
31 kniest dysplasia 11.3
32 yt blood group antigen 11.2
33 malignant hyperthermia 1 11.2
34 muscular atrophy 11.0
35 androgen insensitivity, partial 10.5 LYVE1 AR
36 meningioma, radiation-induced 10.5
37 meningioma, familial 10.5
38 spinal meningioma 10.5
39 secretory meningioma 10.5
40 lymphoplasmacyte-rich meningioma 10.5
41 dysphagia 10.5
42 cerebellar ataxia type 47 10.5 ERCC6 ATXN1
43 cerebellar ataxia type 9 10.5 CACNA1A ATXN7
44 cerebellar ataxia type 42 10.5 CACNA1A ATXN7
45 huntington disease-like 2 10.4 HTT ATXN7 ATXN3
46 spinocerebellar ataxia 30 10.4 CACNA1A ATXN7 ATXN1
47 ataxia and polyneuropathy, adult-onset 10.4
48 choreatic disease 10.4 TBP HTT ATXN7
49 spinocerebellar ataxia 10 10.4 ATXN7 ATXN3 ATXN2
50 ocular motility disease 10.4 CRYAA CACNA1A ATXN7

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

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

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
5 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
6 dysphonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001618
7 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
8 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
9 erectile dysfunction 31 hallmark (90%) HP:0100639
10 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
11 testicular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000029
12 abnormal circulating lipid concentration 31 occasional (7.5%) HP:0003119
13 dysphagia 31 HP:0002015
14 elevated serum creatine kinase 31 HP:0003236
15 sensory neuropathy 31 HP:0000763
16 peripheral neuropathy 31 HP:0009830
17 tremor 31 HP:0001337
18 abnormality of movement 58 Very frequent (99-80%)
19 erectile abnormalities 58 Very frequent (99-80%)
20 abnormality of lipid metabolism 58 Occasional (29-5%)
21 abnormality of the mouth 31 HP:0000153
22 fasciculations 31 HP:0002380
23 calf muscle hypertrophy 31 HP:0008981
24 muscle spasm 31 HP:0003394
25 bulbar palsy 31 HP:0001283
26 limb muscle weakness 31 HP:0003690

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia
choking

Endocrine Features:
decreased fertility

Chest Breasts:
gynecomastia

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

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

Neurologic Central Nervous System:
tremor
dysarthria
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

Head And Neck Face:
weakness of the facial muscles

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

Clinical features from OMIM:

313200

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


tremor, muscular fasciculation, muscle cramp, facial paresis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.92 HDAC6 HSP90AA1 HTT LYVE1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 AR ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 growth/size/body region MP:0005378 10.25 AR ATN1 ATXN1 ATXN2 ATXN7 C9orf72
3 cellular MP:0005384 10.2 AR C9orf72 CACNA1A DCTN1 ERCC6 HDAC6
4 homeostasis/metabolism MP:0005376 10.18 AR ATN1 ATXN1 ATXN2 ATXN3 C9orf72
5 hematopoietic system MP:0005397 10.14 AR ATN1 C9orf72 CACNA1A DCTN1 ERCC6
6 mortality/aging MP:0010768 10.13 AR ATN1 ATXN1 ATXN2 ATXN7 C9orf72
7 immune system MP:0005387 10.1 AR ATN1 C9orf72 CACNA1A DCTN1 ERCC6
8 nervous system MP:0003631 10.06 AR ATN1 ATXN1 ATXN2 ATXN3 ATXN7
9 reproductive system MP:0005389 9.65 AR ATN1 ATXN2 ATXN7 CACNA1A HDAC6
10 skeleton MP:0005390 9.32 AR ATXN1 ATXN7 DCTN1 ERCC6 HDAC6

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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Goserelin Approved Phase 4 65807-02-5 5311128 47725
2 Antineoplastic Agents, Hormonal Phase 4
3
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
4
Dutasteride Approved, Investigational Phase 2 164656-23-9 152945 6918296
5
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 10204 6013
6 5-alpha Reductase Inhibitors Phase 2
7 Hormones Phase 2
8 Hormone Antagonists Phase 2
9 Androgens Phase 2
10 Anesthetics
11 Liver Extracts

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy in Thai Patients Completed NCT00851461 Phase 4 Goserelin
2 A Two-part Placebo-controlled Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy (SBMA) Completed NCT02024932 Phase 2 BVS857;Placebo
3 Phase II Clinical Trial to Examine the Efficacy and Safety of Dutasteride in Patients With Kennedy's Disease (Spinal and Bulbar Muscular Atrophy) Completed NCT00303446 Phase 2 Dutasteride;Placebo
4 Effect of Functional Exercise in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
5 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
6 Exercise traiNing in Amyotrophic Lateral Sclerosis: a ranDomized Trial Comparing Home-based Aerobic endUrance tRAiNing vs. Usual physiCal Therapy intErvention Unknown status NCT01650818
7 High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02156141
8 MRI in Patients With Kennedy Disease Completed NCT02501395
9 Identification of Acoustic and Perceptual Markers of Lower and Upper Motor Neuron Signs in Dysarthria of Patients With Amyotrophic Lateral Sclerosis : a Comparison With Primitive Lateral Sclerosis, Kennedy's Disease and Controls Completed NCT03560661
10 Differential Study of Muscle Transcriptome in Patients With Neuromuscular Disease and Control Subjects Completed NCT01984957
11 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
12 Evaluation of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy Recruiting NCT02124057
13 UK Spinal Muscular Atrophy Patient Registry Recruiting NCT04292574
14 Combination of Multiparametric MRI and Electrophysiology for the Development of New Biomarkers in Spinal Cord Diseases Active, not recruiting NCT02885870

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:

40
Spinal Cord, Brain, Breast, Tongue, Skin, Testes, Skeletal Muscle

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

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

(show top 50) (show all 215)
# Title Authors PMID Year
1
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world. 6 56 61
11436124 2001
2
X-linked bulbospinal neuronopathy: Kennedy disease. 24 56 61
12470181 2002
3
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia. 61 56 24
10951525 2000
4
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. 56 24
15851746 2005
5
CREB-binding protein sequestration by expanded polyglutamine. 56 24
10958659 2000
6
Founder effect in spinal and bulbar muscular atrophy (SBMA). 24 56
8872464 1996
7
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. 61 54 56
7702080 1995
8
Very late onset X-linked recessive bulbospinal neuronopathy: mild clinical features and a mild increase in the size of tandem CAG repeat in androgen receptor gene. 24 56
8331366 1993
9
Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. 56 24
8469342 1993
10
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. 24 56
1303283 1992
11
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. 24 56
1449253 1992
12
X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding. 24 56
1436532 1992
13
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. 56 24
2062380 1991
14
Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. 24 56
3210030 1988
15
X-linked recessive bulbospinal neuronopathy: a report of ten cases. 56 24
6890989 1982
16
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. 24 56
4233749 1968
17
Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. 56 61
17984063 2007
18
ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. 61 56
17334372 2007
19
Laryngospasm: an underdiagnosed symptom of X-linked spinobulbar muscular atrophy. 61 56
15728312 2005
20
Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. 61 56
12221177 2002
21
Kennedy disease in an Italian kindred. 61 56
3699069 1986
22
[Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations]. 61 56
108363 1979
23
Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy. 56
19279159 2009
24
17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse. 56
19066230 2009
25
Androgen receptor gene CAG repeat polymorphism and X-chromosome inactivation in children with premature adrenarche. 6
18252782 2008
26
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker. 56
16358333 2006
27
Bulbospinal muscular atrophy: Kennedy's disease. 56
15313856 2004
28
Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. 56
15102712 2004
29
Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. 56
12754502 2003
30
Jaw drop in Kennedy's disease. 56
12427914 2002
31
A mouse model of spinal and bulbar muscular atrophy. 56
12189162 2002
32
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. 56
12161529 2002
33
Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. 56
11809726 2002
34
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA). 56
11499674 2001
35
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. 24 61
10899444 2000
36
Spinal and Bulbar Muscular Atrophy 6
20301508 1999
37
High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed? 56
9724012 1998
38
Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues. 56
9761394 1998
39
Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. 61 24
9270598 1997
40
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. 56
8807333 1996
41
Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy. 24 54
8410070 1993
42
Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy. 56
1318357 1992
43
X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia. 56
2222245 1990
44
X-linked recessive bulbospinal neuronopathy. A clinicopathological study. 56
2917278 1989
45
A pedigree with protanopia and bulbospinal muscular atrophy. 56
3587620 1987
46
X-linked bulbo-spinal neuronopathy: a family study of three patients. 56
3031222 1987
47
[Neuroendocrine syndrome: pseudomyopathic spinal amyotrophy with gynecomastia related to the X chromosome. Kennedy's syndrome. 3 cases]. 56
2950466 1987
48
Localization of the gene for X-linked spinal muscular atrophy. 56
3466055 1986
49
X-linked adult form of spinal muscular atrophy. 56
6191009 1983
50
Spinal and cranial motor nerve roots in amyotrophic lateral sclerosis and X-linked recessive bulbospinal muscular atrophy: morphometric and teased-fiber study. 56
6891550 1981

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 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AR NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)NT expansion Pathogenic 417977 rs3032358 X:66765160-66765162 X:67545318-67545320
2 AR NC_000023.11:g.(?_67686010)_(67686126_?)deldeletion Pathogenic 464783 X:66905852-66905968 X:67686010-67686126
3 AR NM_000044.6(AR):c.292C>T (p.Gln98Ter)SNV Pathogenic 464802 rs1555969553 X:66765280-66765280 X:67545438-67545438
4 AR NM_000044.6(AR):c.2296G>A (p.Ala766Thr)SNV Pathogenic 458363 rs1555996863 X:66937442-66937442 X:67717600-67717600
5 AR NM_000044.6(AR):c.2176T>C (p.Phe726Leu)SNV Pathogenic 458362 rs1555996810 X:66937322-66937322 X:67717480-67717480
6 AR NM_000044.6(AR):c.2359C>T (p.Arg787Ter)SNV Pathogenic 458364 rs1555997580 X:66941715-66941715 X:67721873-67721873
7 AR NM_000044.6(AR):c.2495G>A (p.Arg832Gln)SNV Pathogenic 458366 rs1386577803 X:66942714-66942714 X:67722872-67722872
8 AR NM_000044.6(AR):c.749dup (p.Val251fs)duplication Pathogenic 464803 rs1555969684 X:66765734-66765735 X:67545892-67545893
9 AR NM_000044.6(AR):c.1440dup (p.Tyr481fs)duplication Pathogenic 464787 rs1555970004 X:66766423-66766424 X:67546581-67546582
10 AR NM_000044.6(AR):c.2612C>T (p.Ala871Val)SNV Pathogenic 492801 rs143040492 X:66943532-66943532 X:67723690-67723690
11 AR NM_000044.6(AR):c.1451_1454del (p.Thr484fs)deletion Pathogenic 578606 rs1569265331 X:66766439-66766442 X:67546597-67546600
12 AR NM_000044.6(AR):c.1614dup (p.Arg539fs)duplication Pathogenic 578903 rs1569265470 X:66766601-66766602 X:67546759-67546760
13 AR NM_000044.6(AR):c.2318+1G>CSNV Pathogenic 580553 rs1569314508 X:66937465-66937465 X:67717623-67717623
14 AR NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer)indel Pathogenic 581270 rs1569263557 X:66765183-66765187 X:67545341-67545345
15 AR NM_000044.6(AR):c.271C>T (p.Gln91Ter)SNV Pathogenic 575053 rs112374098 X:66765259-66765259 X:67545417-67545417
16 AR NM_000044.6(AR):c.830_845dup (p.Pro283fs)duplication Pathogenic 577402 rs1569264288 X:66765813-66765814 X:67545971-67545972
17 AR NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)insertion Pathogenic 643319 X:66765160-66765161 X:67545318-67545319
18 AR NM_000044.6(AR):c.756_765del (p.Glu252fs)deletion Pathogenic 644458 X:66765744-66765753 X:67545902-67545911
19 AR NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)short repeat Pathogenic 646425 X:66766298-66766299 X:67546456-67546457
20 AR NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)short repeat Pathogenic 658929 X:66863202-66863203 X:67643360-67643361
21 AR NM_000044.6(AR):c.1897A>T (p.Lys633Ter)SNV Pathogenic 650823 X:66931255-66931255 X:67711413-67711413
22 AR NM_000044.6(AR):c.2528T>C (p.Ile843Thr)SNV Pathogenic 658124 X:66942747-66942747 X:67722905-67722905
23 AR NM_000044.6(AR):c.2546dup (p.Asn849fs)duplication Pathogenic 649268 X:66942759-66942760 X:67722917-67722918
24 AR NM_000044.6(AR):c.2678C>T (p.Pro893Leu)SNV Pathogenic 654813 X:66943598-66943598 X:67723756-67723756
25 AR NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter)insertion Pathogenic 846244 X:66765169-66765170 X:67545327-67545328
26 AR NM_000044.6(AR):c.463G>T (p.Glu155Ter)SNV Pathogenic 852260 X:66765451-66765451 X:67545609-67545609
27 AR NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)SNV Pathogenic 863409 X:66863196-66863196 X:67643354-67643354
28 AR NM_000044.6(AR):c.2323C>T (p.Arg775Cys)SNV Pathogenic 9804 rs137852562 X:66941679-66941679 X:67721837-67721837
29 AR NM_000044.6(AR):c.2599G>A (p.Val867Met)SNV Pathogenic 9806 rs137852564 X:66942818-66942818 X:67722976-67722976
30 AR NM_000044.6(AR):c.2391G>A (p.Trp797Ter)SNV Pathogenic 9807 rs137852565 X:66941747-66941747 X:67721905-67721905
31 AR NM_000044.6(AR):c.1789G>A (p.Ala597Thr)SNV Pathogenic 9813 rs137852569 X:66905872-66905872 X:67686030-67686030
32 AR NM_000044.4(AR):c.172_174CAG(10_36) (p.Gln69_Gln80del)NT expansion Pathogenic 9818 rs3032358 X:66765160-66765162 X:67545318-67545320
33 AR NM_000044.6(AR):c.2567G>A (p.Arg856His)SNV Pathogenic 9823 rs9332971 X:66942786-66942786 X:67722944-67722944
34 AR NM_000044.6(AR):c.2522G>A (p.Arg841His)SNV Pathogenic 9829 rs9332969 X:66942741-66942741 X:67722899-67722899
35 AR NM_000044.6(AR):c.2521C>T (p.Arg841Cys)SNV Pathogenic 9830 rs137852577 X:66942740-66942740 X:67722898-67722898
36 AR NM_000044.6(AR):c.2667C>T (p.Ser889=)SNV Pathogenic 9850 rs137852594 X:66943587-66943587 X:67723745-67723745
37 AR NM_000044.4(AR):c.172_174(38_?) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)NT expansion Pathogenic 155759 X:66765160-66765162 X:67545318-67545320
38 AR NM_000044.6(AR):c.2257C>T (p.Arg753Ter)SNV Pathogenic 265460 rs886039558 X:66937403-66937403 X:67717561-67717561
39 AR NM_000044.6(AR):c.2668G>A (p.Val890Met)SNV Pathogenic 279690 rs886041133 X:66943588-66943588 X:67723746-67723746
40 AR NM_000044.6(AR):c.1823G>A (p.Arg608Gln)SNV Pathogenic/Likely pathogenic 9820 rs137852573 X:66905906-66905906 X:67686064-67686064
41 AR NC_000023.10:g.(?_66863078)_(66905988_?)dupduplication Likely pathogenic 650707 X:66863078-66905988 X:67643236-67686146
42 AR NM_000044.6(AR):c.2053G>A (p.Val685Ile)SNV Likely pathogenic 533378 rs1555995822 X:66931411-66931411 X:67711569-67711569
43 AR NM_000044.6(AR):c.2239G>A (p.Val747Met)SNV Likely pathogenic 658947 X:66937385-66937385 X:67717543-67717543
44 AR NM_000044.6(AR):c.1805G>A (p.Cys602Tyr)SNV Likely pathogenic 458359 rs1555990470 X:66905888-66905888 X:67686046-67686046
45 AR NM_000044.6(AR):c.2698A>T (p.Ile900Phe)SNV Likely pathogenic 464801 rs1555998108 X:66943618-66943618 X:67723776-67723776
46 AR NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)NT expansion risk factor 417976 rs3032358 X:66765160-66765162 X:67545318-67545320
47 AR NM_000044.6(AR):c.2420G>A (p.Cys807Tyr)SNV Conflicting interpretations of pathogenicity 418862 rs1064793480 X:66941776-66941776 X:67721934-67721934
48 AR NM_000044.6(AR):c.171_173GCA[36] (p.Gln68_Gln80dup)short repeat Uncertain significance 417975 X:66765158-66765159 X:67545316-67545317
49 AR NM_000044.6(AR):c.173A>T (p.Gln58Leu)SNV Uncertain significance 402390 rs200185441 X:66765161-66765161 X:67545319-67545319
50 AR NM_000044.6(AR):c.1736G>C (p.Ser579Thr)SNV Uncertain significance 464791 rs1555982879 X:66863217-66863217 X:67643375-67643375

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 HTT HSP90AA1 ATXN7 ATXN3 ATXN2 ATXN1
2
Show member pathways
12.6 TBP HSPA4 HSP90AA1 DNAJB1 CACNA1A AR
3
Show member pathways
12.34 HSPA4 ERCC6 ATXN7 ATXN3 ATXN2 ATXN1
4
Show member pathways
11.97 HSPA4 HSP90AA1 HDAC6 DNAJB1
5 11.93 HSP90AA1 DNAJB1 CRYAA ATXN3
6
Show member pathways
11.62 HSPA4 HDAC6 CRYAA ATXN3
7
Show member pathways
11.23 SOD1 HSPA4 HSP90AA1 DNAJB1
8 11.15 TBP CACNA1A ATXN3 ATXN2 ATXN1
9 10.13 TBP HSPA4 HSP90AA1

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 10.18 SOD1 HTT HSPA4 HSP90AA1 HDAC6 DNAJB1
2 nucleoplasm GO:0005654 9.97 TBP SOD1 HTT HSP90AA1 HDAC6 ERCC6
3 cytoplasm GO:0005737 9.89 TBP SOD1 HTT HSPA4 HSP90AA1 HDAC6
4 neuronal cell body GO:0043025 9.8 SOD1 HSP90AA1 DNAJB1 DCTN1 CACNA1A
5 protein-containing complex GO:0032991 9.8 TBP SOD1 HTT HSP90AA1 HDAC6 CRYAA
6 nuclear matrix GO:0016363 9.62 ATXN7 ATXN3 ATXN1 ATN1
7 nucleus GO:0005634 9.55 TBP SOD1 HTT HSPA4 HSP90AA1 HDAC6
8 nuclear inclusion body GO:0042405 9.43 ATXN3 ATXN1

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 response to unfolded protein GO:0006986 9.43 HSPA4 HSP90AA1 DNAJB1
2 protein quality control for misfolded or incompletely synthesized proteins GO:0006515 9.32 HDAC6 ATXN3
3 cellular response to misfolded protein GO:0071218 9.16 HDAC6 ATXN3
4 response to superoxide GO:0000303 8.96 SOD1 ERCC6
5 protein import into mitochondrial outer membrane GO:0045040 8.62 HSPA4 HSP90AA1

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 protein binding GO:0005515 9.6 TBP SOD1 LYVE1 HTT HSPA4 HSP90AA1
2 ATPase binding GO:0051117 9.33 DNAJB1 ATXN3 AR
3 tau protein binding GO:0048156 9.13 HSP90AA1 HDAC6 DCTN1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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