SMAX1
MCID: SPN404
MIFTS: 61

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

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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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 36
Kennedy Disease 57 11 19 42 58 75 73 28 53 5
Sbma 57 11 24 19 42 58 73
Spinal and Bulbar Muscular Atrophy 57 24 19 42 75 73
Kennedy's Disease 11 24 42 52 14
X-Linked Spinal and Bulbar Muscular Atrophy 11 19 42 58
Kennedy Spinal and Bulbar Muscular Atrophy 57 42 73
Spinobulbar Muscular Atrophy 11 19 53
Smax1 57 58 73
Kd 57 42 73
Spinal and Bulbar Muscular Atrophy of Kennedy 57 12
Bulbospinal Neuronopathy, X-Linked Recessive 57 71
Bulbospinal Muscular Atrophy, X-Linked 57 42
X-Linked Bulbospinal Amyotrophy 19 58
Bulbo-Spinal Atrophy, X-Linked 43 71
Bulbospinal Muscular Atrophy 19 58
Xbsn 57 73
Atrophy, Muscular, Spinal and Bulbar, Kennedy Type 38
Spinal and Bulbar Muscular Atrophy X-Linked 1 73
Bulbospinal Neuronopathy X-Linked Recessive 73
X-Linked Spinal Bulbar Muscular Atrophy 24
X-Linked Bulbospinal Muscular Atrophy 58
Bulbospinal Muscular Atrophy X-Linked 73
Spinal Bulbar Muscular Atrophy 11
Atrophy, Muscular, Spinobulbar 71
X-Linked Bulbo-Spinal Atrophy 11
Bulbospinal Neuronopathy 71
Kennedy Syndrome 53
X-Linked Bsma 58

Characteristics:


Inheritance:

Spinal and Bulbar Muscular Atrophy, X-Linked 1: X-linked recessive 57
Kennedy Disease: X-linked recessive 58

Prevelance:

Kennedy Disease: <1/1000000 (Italy) 1-9/100000 (Italy, Italy, Finland) 58

Age Of Onset:

Kennedy Disease: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
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, )


HPO:

30
spinal and bulbar muscular atrophy, x-linked 1:
Onset and clinical course slowly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders


External Ids:

Disease Ontology 11 DOID:0060161
OMIM® 57 313200
NCIt 49 C85233
SNOMED-CT 68 230253001
ICD10 via Orphanet 32 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: 52 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 muscular atrophy and lateral sclerosis, 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 CCR5 Pathway in Macrophages and Regulation of degradation of deltaF508 CFTR in CF. The drugs Goserelin and Antineoplastic Agents, Hormonal have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, tongue and testes, and related phenotypes are dysarthria and gait disturbance

MedlinePlus Genetics: 42 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).

GARD: 19 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 adult males. 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. Other symptoms include 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 genetic change in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner.

UniProtKB/Swiss-Prot: 73 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.

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) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

Orphanet: 58 Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.

Wikipedia: 75 Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a debilitating... 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 312)
# Related Disease Score Top Affiliating Genes
1 muscular atrophy 32.2 SMN2 SMN1 LOC109504725 HTT FUS C9orf72
2 lateral sclerosis 31.8 SOD1 FUS C9orf72 ATXN2
3 androgen insensitivity syndrome 31.8 LYVE1 LOC109504725 AR
4 motor neuron disease 31.5 SOD1 SMN2 SMN1 MIR196A1 HTT HSPA4
5 neuromuscular disease 31.5 SOD1 SMN2 SMN1 HTT FUS CRYAA
6 amyotrophic lateral sclerosis 1 31.2 TBP SOD1 SMN2 SMN1 MIR196A1 HTT
7 myopathy 31.1 SOD1 SMN2 SMN1 MIR196A1 HTT FUS
8 essential tremor 31.1 FUS C9orf72 ATXN2
9 progressive bulbar palsy 31.0 SOD1 FUS C9orf72
10 huntington disease 31.0 TBP SOD1 MIR196A1 HTT HSPA4 CACNA1A
11 progressive muscular atrophy 31.0 SOD1 SMN2 SMN1 FUS C9orf72 ATXN2
12 dentatorubral-pallidoluysian atrophy 30.9 TBP LOC109504725 HTT CACNA1A C9orf72 ATXN7
13 myotonic dystrophy 1 30.8 SMN2 SMN1 HTT C9orf72 ATXN7 ATXN3
14 machado-joseph disease 30.8 TBP LOC109504725 HTT CACNA1A ATXN7 ATXN3
15 spinal muscular atrophy, x-linked 2 30.6 SMN2 SMN1
16 spinal disease 30.6 SMN2 SMN1 MIR196A1 AR
17 multiple system atrophy 1 30.6 HTT CACNA1A C9orf72 ATXN1
18 hereditary ataxia 30.6 TBP SOD1 HTT FUS CRYAA CACNA1A
19 dystonia 30.5 HTT CACNA1A C9orf72 ATXN7 ATXN3 ATXN1
20 autosomal dominant cerebellar ataxia 30.5 TBP SOD1 HTT HSPA4 FUS DNAJB1
21 charcot-marie-tooth disease 30.4 SOD1 SMN2 SMN1 HTT FUS CRYAA
22 peripheral nervous system disease 30.4 SOD1 SMN2 SMN1 MIR196A1 HTT HSPA4
23 muscular disease 30.4 SMN2 SMN1 MIR196A1 CRYAA
24 movement disease 30.3 TBP SOD1 HTT FUS CACNA1A C9orf72
25 spinocerebellar ataxia 1 30.3 TBP HTT CACNA1A C9orf72 ATXN7 ATXN3
26 spinal muscular atrophy 30.3 TBP SOD1 SMN2 SMN1 MIR196A1 HTT
27 frontotemporal dementia 30.2 SOD1 HTT FUS C9orf72 ATXN2
28 friedreich ataxia 30.1 TBP SOD1 CACNA1A ATXN7 ATXN3 ATXN2
29 parkinson disease, late-onset 30.1 TBP SOD1 HTT HSPA4 FUS CRYAA
30 retinitis pigmentosa 29.4 TBP SOD1 SMN2 SMN1 HTT HSPA4
31 foster-kennedy syndrome 11.7
32 spinal atrophy ophthalmoplegia pyramidal syndrome 11.4
33 generalized bulbospinal muscular atrophy 11.3
34 bulbospinal muscular atrophy of adult 11.3
35 bulbospinal muscular atrophy of childhood 11.3
36 gynecomastia 10.8
37 tremor 10.7
38 chopra-amiel-gordon syndrome 10.6
39 atrophy of testis 10.5
40 toxic encephalopathy 10.5
41 meningioma, familial 10.5
42 3-methylglutaconic aciduria, type iii 10.5
43 myasthenia gravis 10.5
44 turner syndrome 10.5
45 henoch-schoenlein purpura 10.4
46 spinocerebellar ataxia 18 10.4 CACNA1A ATXN1
47 complete androgen insensitivity syndrome 10.4 LYVE1 LOC109504725 AR
48 spinocerebellar ataxia 4 10.4 ATXN7 ATXN2 ATXN1
49 anosognosia 10.4 HTT C9orf72
50 amyotrophic lateral sclerosis type 15 10.4 SOD1 C9orf72 ATXN2

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 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001260
2 gait disturbance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001288
3 dysphonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001618
4 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
5 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003202
6 decreased fertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000144
7 gynecomastia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000771
8 hyporeflexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001265
9 erectile dysfunction 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100639
10 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
11 abnormal circulating lipid concentration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003119
12 testicular atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000029
13 tremor 30 HP:0001337
14 dysphagia 30 HP:0002015
15 abnormality of movement 58 Very frequent (99-80%)
16 elevated circulating creatine kinase concentration 30 HP:0003236
17 abnormality of the mouth 30 HP:0000153
18 sensory neuropathy 30 HP:0000763
19 peripheral neuropathy 30 HP:0009830
20 fasciculations 30 HP:0002380
21 limb muscle weakness 30 HP:0003690
22 muscle spasm 30 HP:0003394
23 bulbar palsy 30 HP:0001283
24 calf muscle hypertrophy 30 HP:0008981

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
tremor
fasciculations
bulbar weakness
atrophy and weakness of the tongue, jaw, and throat muscles
more
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

Abdomen Gastrointestinal:
dysphagia
choking

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 (Updated 08-Dec-2022)

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


tremor; muscular fasciculation; muscle cramp; facial paresis

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.31 AR ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 growth/size/body region MP:0005378 10.18 AR ATN1 ATXN1 ATXN2 ATXN7 C9orf72
3 behavior/neurological MP:0005386 10.13 AR ATN1 ATXN1 ATXN2 ATXN3 ATXN7
4 no phenotypic analysis MP:0003012 10.11 ATN1 C9orf72 CACNA1A FUS HTT MIR196A1
5 normal MP:0002873 10.08 AR ATN1 CACNA1A DNAJB1 FUS HTT
6 cellular MP:0005384 10.06 AR C9orf72 CACNA1A CRYAA FUS HSPA4
7 muscle MP:0005369 10.01 AR ATXN1 ATXN7 CACNA1A HTT SMN1
8 reproductive system MP:0005389 9.9 AR ATN1 ATXN2 ATXN7 CACNA1A FUS
9 skeleton MP:0005390 9.61 AR ATXN1 ATXN7 HTT MIR196A1 SMN1
10 mortality/aging MP:0010768 9.5 AR ATN1 ATXN1 ATXN2 ATXN7 C9orf72

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
4
Dutasteride Approved, Investigational Phase 2 164656-23-9 6918296
5
Testosterone Approved, Investigational Phase 2 58-22-0 5408 6013
6 Androgens Phase 2
7 Hormones Phase 2
8 5-alpha Reductase Inhibitors Phase 2
9 Hormone Antagonists Phase 2
10 Liver Extracts
11 Anesthetics

Interventional clinical trials:

(show all 15)
# 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 A Phase 1/2a, Randomized, Double-Blind, Placebo-Controlled, First-In-Patient Study Of AJ201 To Evaluate Safety, Tolerability, Pharmacokinetics, And Pharmacodynamics In Adults With Spinal And Bulbar Muscular Atrophy (SMBA) Not yet recruiting NCT05517603 Phase 1, Phase 2 AJ201;Placebo
7 MRI in Patients With Kennedy Disease Completed NCT02501395
8 Differential Study of Muscle Transcriptome in Patients With Neuromuscular Disease and Control Subjects Completed NCT01984957
9 Evaluation of Hepatic Function in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02124057
10 High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02156141
11 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
12 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
13 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
14 An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA) Recruiting NCT04944940
15 Cell Signaling, Reinnervation and Metabolism in Kennedy Disease and Amyotrophic Lateral Sclerosis (ALS) Not yet recruiting NCT05107349

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 Kennedy Disease 28 AR

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

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

MalaCards : Spinal Cord, Tongue, Testes, Brain, Breast, Skin, 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 1537)
# Title Authors PMID Year
1
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world. 62 57 5
11436124 2001
2
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. 62 24 57
15851746 2005
3
X-linked bulbospinal neuronopathy: Kennedy disease. 62 24 57
12470181 2002
4
Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals. 62 24 5
11266016 2001
5
CREB-binding protein sequestration by expanded polyglutamine. 62 24 57
10958659 2000
6
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia. 62 24 57
10951525 2000
7
Founder effect in spinal and bulbar muscular atrophy (SBMA). 62 24 57
8872464 1996
8
Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. 62 24 57
8469342 1993
9
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. 62 24 57
1303283 1992
10
X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding. 62 24 57
1436532 1992
11
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. 62 24 57
2062380 1991
12
X-linked recessive bulbospinal neuronopathy: a report of ten cases. 62 24 57
6890989 1982
13
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. 62 24 57
4233749 1968
14
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. 53 62 57
7702080 1995
15
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 57
8331366 1993
16
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. 24 57
1449253 1992
17
Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. 24 57
3210030 1988
18
Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy. 62 57
19279159 2009
19
17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse. 62 57
19066230 2009
20
Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. 62 57
17984063 2007
21
ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. 62 57
17334372 2007
22
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker. 62 57
16358333 2006
23
Laryngospasm: an underdiagnosed symptom of X-linked spinobulbar muscular atrophy. 62 57
15728312 2005
24
Bulbospinal muscular atrophy: Kennedy's disease. 62 57
15313856 2004
25
Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. 62 57
15102712 2004
26
Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. 62 57
12754502 2003
27
Jaw drop in Kennedy's disease. 62 57
12427914 2002
28
Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. 62 57
12221177 2002
29
A mouse model of spinal and bulbar muscular atrophy. 62 57
12189162 2002
30
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. 62 57
12161529 2002
31
Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. 62 57
11809726 2002
32
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA). 62 57
11499674 2001
33
Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues. 62 57
9761394 1998
34
High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed? 62 57
9724012 1998
35
The clinical and molecular spectrum of androgen insensitivity syndromes. 62 5
8723113 1996
36
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. 62 57
8807333 1996
37
Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy. 62 57
1318357 1992
38
X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia. 62 57
2222245 1990
39
A pedigree with protanopia and bulbospinal muscular atrophy. 62 57
3587620 1987
40
Kennedy disease in an Italian kindred. 62 57
3699069 1986
41
Spinal and cranial motor nerve roots in amyotrophic lateral sclerosis and X-linked recessive bulbospinal muscular atrophy: morphometric and teased-fiber study. 62 57
6891550 1981
42
[Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations]. 62 57
108363 1979
43
Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. 5
31012339 2021
44
Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome. 5
31499074 2019
45
Spermatogenesis disorder is associated with mutations in the ligand-binding domain of an androgen receptor. 5
31373714 2019
46
Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China. 5
28261839 2017
47
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). 5
28624954 2017
48
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. 5
28456808 2017
49
Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development. 5
27849622 2017
50
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene. 5
27403927 2016

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

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

5 (show top 50) (show all 195)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AR NM_000044.6(AR):c.292C>T (p.Gln98Ter) SNV Pathogenic
464802 rs1555969553 GRCh37: X:66765280-66765280
GRCh38: X:67545438-67545438
2 AR NC_000023.11:g.(?_67686010)_(67686126_?)del DEL Pathogenic
464783 GRCh37: X:66905852-66905968
GRCh38: X:67686010-67686126
3 AR NM_000044.6(AR):c.749dup (p.Val251fs) DUP Pathogenic
464803 rs1555969684 GRCh37: X:66765734-66765735
GRCh38: X:67545892-67545893
4 LOC109504725, AR NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) INDEL Pathogenic
581270 rs1569263557 GRCh37: X:66765183-66765187
GRCh38: X:67545341-67545345
5 AR NM_000044.6(AR):c.1314_1315del (p.Phe439fs) MICROSAT Pathogenic
646425 rs1602144930 GRCh37: X:66766298-66766299
GRCh38: X:67546456-67546457
6 AR NM_000044.6(AR):c.1897A>T (p.Lys633Ter) SNV Pathogenic
650823 rs1602272308 GRCh37: X:66931255-66931255
GRCh38: X:67711413-67711413
7 AR NC_000023.10:g.(?_66941655)_(66943683_?)del DEL Pathogenic
1454388 GRCh37: X:66941655-66943683
GRCh38:
8 AR NM_000044.6(AR):c.1885+2T>G SNV Pathogenic
1437090 GRCh37: X:66905970-66905970
GRCh38: X:67686128-67686128
9 AR NM_000044.6(AR):c.2512G>T (p.Glu838Ter) SNV Pathogenic
1455502 GRCh37: X:66942731-66942731
GRCh38: X:67722889-67722889
10 AR NM_000044.6(AR):c.1707del (p.Cys570fs) DEL Pathogenic
1454419 GRCh37: X:66863186-66863186
GRCh38: X:67643344-67643344
11 AR NM_000044.6(AR):c.829_833dup (p.Val279fs) DUP Pathogenic
1454671 GRCh37: X:66765816-66765817
GRCh38: X:67545974-67545975
12 AR NC_000023.10:g.(?_66931224)_(66931551_?)del DEL Pathogenic
1460010 GRCh37: X:66931224-66931551
GRCh38:
13 AR NM_000044.6(AR):c.2515C>A (p.Leu839Ile) SNV Pathogenic
1460367 GRCh37: X:66942734-66942734
GRCh38: X:67722892-67722892
14 LOC109504725, AR NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter) INSERT Pathogenic
846244 rs1929660142 GRCh37: X:66765169-66765170
GRCh38: X:67545327-67545328
15 LOC109504725, AR NM_000044.6(AR):c.239_240insGCAGCAGC (p.Glu81fs) INSERT Pathogenic
937145 rs1569263642 GRCh37: X:66765227-66765228
GRCh38: X:67545385-67545386
16 AR NM_000044.6(AR):c.1460del (p.Pro487fs) DEL Pathogenic
942481 rs1929773822 GRCh37: X:66766444-66766444
GRCh38: X:67546602-67546602
17 AR NM_000044.6(AR):c.1335del (p.Gln445fs) DEL Pathogenic
947728 rs1929749440 GRCh37: X:66766323-66766323
GRCh38: X:67546481-67546481
18 AR NM_000044.6(AR):c.1737del (p.Cys580fs) DEL Pathogenic
1072748 GRCh37: X:66863218-66863218
GRCh38: X:67643376-67643376
19 AR NM_000044.6(AR):c.52dup (p.Thr18fs) DUP Pathogenic
1073393 GRCh37: X:66765039-66765040
GRCh38: X:67545197-67545198
20 AR NM_000044.6(AR):c.1440dup (p.Tyr481fs) DUP Pathogenic
464787 rs1555970004 GRCh37: X:66766423-66766424
GRCh38: X:67546581-67546582
21 AR NM_000044.6(AR):c.2521C>T (p.Arg841Cys) SNV Pathogenic
9830 rs137852577 GRCh37: X:66942740-66942740
GRCh38: X:67722898-67722898
22 AR NC_000023.10:g.(?_66863078)_(66943703_?)del DEL Pathogenic
1071362 GRCh37: X:66863078-66943703
GRCh38:
23 AR NM_000044.6(AR):c.2117A>G (p.Asn706Ser) SNV Pathogenic
492789 rs925822435 GRCh37: X:66931475-66931475
GRCh38: X:67711633-67711633
24 LOC109504725, AR NM_000044.6(AR):c.271C>T (p.Gln91Ter) SNV Pathogenic
575053 rs112374098 GRCh37: X:66765259-66765259
GRCh38: X:67545417-67545417
25 AR NM_000044.6(AR):c.830_845dup (p.Pro283fs) DUP Pathogenic
577402 rs1569264288 GRCh37: X:66765813-66765814
GRCh38: X:67545971-67545972
26 AR NM_000044.6(AR):c.1614dup (p.Arg539fs) DUP Pathogenic
578903 rs1569265470 GRCh37: X:66766601-66766602
GRCh38: X:67546759-67546760
27 AR NM_000044.6(AR):c.2324G>A (p.Arg775His) SNV Pathogenic
9819 rs137852572 GRCh37: X:66941680-66941680
GRCh38: X:67721838-67721838
28 LOC109504725, AR NM_000044.6(AR):c.268C>T (p.Gln90Ter) SNV Pathogenic
458365 rs1555969545 GRCh37: X:66765256-66765256
GRCh38: X:67545414-67545414
29 AR NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter) DUP Pathogenic
1394063 GRCh37: X:66941674-66941675
GRCh38: X:67721832-67721833
30 AR NM_000044.6(AR):c.1847G>A (p.Arg616His) SNV Pathogenic
279684 rs754201976 GRCh37: X:66905930-66905930
GRCh38: X:67686088-67686088
31 AR NM_000044.6(AR):c.2359C>T (p.Arg787Ter) SNV Pathogenic
458364 rs1555997580 GRCh37: X:66941715-66941715
GRCh38: X:67721873-67721873
32 AR NM_000044.6(AR):c.2176T>C (p.Phe726Leu) SNV Pathogenic
458362 rs1555996810 GRCh37: X:66937322-66937322
GRCh38: X:67717480-67717480
33 AR NM_000044.6(AR):c.2668G>A (p.Val890Met) SNV Pathogenic
279690 rs886041133 GRCh37: X:66943588-66943588
GRCh38: X:67723746-67723746
34 AR NM_000044.6(AR):c.2391G>A (p.Trp797Ter) SNV Pathogenic
9807 rs137852565 GRCh37: X:66941747-66941747
GRCh38: X:67721905-67721905
35 AR NM_000044.6(AR):c.1451_1454del (p.Thr484fs) DEL Pathogenic
578606 rs1569265331 GRCh37: X:66766439-66766442
GRCh38: X:67546597-67546600
36 AR NM_000044.6(AR):c.2318+1G>C SNV Pathogenic
580553 rs1569314508 GRCh37: X:66937465-66937465
GRCh38: X:67717623-67717623
37 AR NM_000044.6(AR):c.2599G>A (p.Val867Met) SNV Pathogenic
Pathogenic
9806 rs137852564 GRCh37: X:66942818-66942818
GRCh38: X:67722976-67722976
38 AR NM_000044.6(AR):c.2296G>A (p.Ala766Thr) SNV Pathogenic
458363 rs1555996863 GRCh37: X:66937442-66937442
GRCh38: X:67717600-67717600
39 LOC109504725, AR NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter) INSERT Pathogenic
643319 rs1602143232 GRCh37: X:66765160-66765161
GRCh38: X:67545318-67545319
40 AR NM_000044.6(AR):c.756_765del (p.Glu252fs) DEL Pathogenic
644458 rs1602144034 GRCh37: X:66765744-66765753
GRCh38: X:67545902-67545911
41 AR NM_000044.6(AR):c.2257C>T (p.Arg753Ter) SNV Pathogenic
265460 rs886039558 GRCh37: X:66937403-66937403
GRCh38: X:67717561-67717561
42 AR NM_000044.6(AR):c.1789G>A (p.Ala597Thr) SNV Pathogenic
9813 rs137852569 GRCh37: X:66905872-66905872
GRCh38: X:67686030-67686030
43 AR NM_000044.6(AR):c.2546dup (p.Asn849fs) DUP Pathogenic
649268 rs1602279488 GRCh37: X:66942759-66942760
GRCh38: X:67722917-67722918
44 AR NM_000044.6(AR):c.1823G>A (p.Arg608Gln) SNV Pathogenic
9820 rs137852573 GRCh37: X:66905906-66905906
GRCh38: X:67686064-67686064
45 AR NM_000044.6(AR):c.2678C>T (p.Pro893Leu) SNV Pathogenic
654813 rs1602280356 GRCh37: X:66943598-66943598
GRCh38: X:67723756-67723756
46 AR NM_000044.6(AR):c.1724_1725del (p.Leu575fs) MICROSAT Pathogenic
658929 rs1602220874 GRCh37: X:66863202-66863203
GRCh38: X:67643360-67643361
47 AR NM_000044.6(AR):c.463G>T (p.Glu155Ter) SNV Pathogenic
852260 rs764126853 GRCh37: X:66765451-66765451
GRCh38: X:67545609-67545609
48 AR NM_000044.6(AR):c.2522G>A (p.Arg841His) SNV Pathogenic
9829 rs9332969 GRCh37: X:66942741-66942741
GRCh38: X:67722899-67722899
49 AR NM_000044.6(AR):c.2528T>C (p.Ile843Thr) SNV Pathogenic
658124 rs9332970 GRCh37: X:66942747-66942747
GRCh38: X:67722905-67722905
50 AR NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) SNV Pathogenic
863409 rs1925886715 GRCh37: X:66863196-66863196
GRCh38: X:67643354-67643354

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
12.29 TBP HSPA4 DNAJB1 CACNA1A AR
2
Show member pathways
11.43 HSPA4 CRYAA ATXN3
3
Show member pathways
10.57 SOD1 HSPA4 DNAJB1
4 9.91 TBP HSPA4

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 cytoplasm GO:0005737 10.16 AR ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 SMN complex GO:0032797 9.46 SMN2 SMN1
3 nuclear matrix GO:0016363 9.23 ATXN7 ATXN3 ATXN1 ATN1

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 RNA polymerase II general transcription initiation factor binding GO:0001091 8.92 TBP AR

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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