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SMAX1
MCID: SPN404
MIFTS: 62

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Spinal and Bulbar Muscular Atrophy, X-Linked 1

About this section

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

Name: Spinal and Bulbar Muscular Atrophy, X-Linked 1 58
Kennedy Disease 58 12 77 54 26 60 76 56
Spinal and Bulbar Muscular Atrophy 58 77 25 54 26 76 38
Sbma 58 12 25 54 26 60 76
X-Linked Spinal and Bulbar Muscular Atrophy 12 54 26 55 60
Kennedy's Disease 12 26 55 15
Kennedy Spinal and Bulbar Muscular Atrophy 58 26 76
Spinobulbar Muscular Atrophy 12 54 56
Smax1 58 60 76
Kd 58 26 76
Spinal and Bulbar Muscular Atrophy of Kennedy 58 13
Bulbospinal Neuronopathy, X-Linked Recessive 58 74
Bulbospinal Muscular Atrophy, X-Linked 58 26
X-Linked Bulbospinal Amyotrophy 54 60
Bulbo-Spinal Atrophy, X-Linked 45 74
Bulbo-Spinal Atrophy X-Linked 30 6
Bulbospinal Muscular Atrophy 54 55
Xbsn 58 76
Bulbospinal Neuronopathy, X-Linked Recessive; Xbsn 58
Atrophy, Muscular, Spinal and Bulbar, Kennedy Type 41
Spinal and Bulbar Muscular Atrophy X-Linked 1 76
Bulbospinal Neuronopathy X-Linked Recessive 76
Spinal and Bulbar Muscular Atrophy; Sbma 58
X-Linked Spinalbulbar Muscular Atrophy 25
X-Linked Bulbospinal Muscular Atrophy 60
Bulbospinal Muscular Atrophy X-Linked 76
Spinal Bulbar Muscular Atrophy 12
Atrophy, Muscular, Spinobulbar 74
X-Linked Bulbo-Spinal Atrophy 12
Bulbospinal Neuronopathy 74
Kennedy Disease; Kd 58
Kennedy Syndrome 56
Kennedy Disease) 6
X-Linked Bsma 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
spinal and bulbar muscular atrophy, x-linked 1:
Onset and clinical course adult onset slow progression
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Reproductive diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare infertility disorders


Sources

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

About this section
NINDS : 55 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, 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 Neuroscience. The drugs Testosterone and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include prostate, spinal cord and brain, 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 : 26 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 : 54 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 : 58 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 : 76 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 : 77 Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy''s disease, is a progressive... more...

GeneReviews: NBK1333
Sources

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

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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 218)
# Related Disease Score Top Affiliating Genes
1 dentatorubral-pallidoluysian atrophy 30.5 ATXN3 ATXN7 HTT
2 machado-joseph disease 30.1 ATXN1 ATXN3 ATXN7 HTT
3 amyotrophic lateral sclerosis 1 30.1 DNAJB2 HSPB8 HTT SOD1
4 autosomal dominant cerebellar ataxia 29.7 ATXN1 ATXN3 ATXN7
5 spinocerebellar ataxia 1 29.7 AR ATXN1 ATXN3 ATXN7 HTT
6 huntington disease 29.5 ATXN1 ATXN3 HTT SOD1
7 foster-kennedy syndrome 12.6
8 kawasaki disease 12.0
9 krabbe disease 11.5
10 spinal atrophy ophthalmoplegia pyramidal syndrome 11.3
11 kniest dysplasia 11.1
12 yt blood group antigen 11.1
13 malignant hyperthermia 1 11.1
14 muscular atrophy 11.0
15 tremor 10.4
16 prostate cancer 10.4
17 prostate cancer, hereditary, 8 10.4
18 prostate cancer, hereditary, 6 10.4
19 motor neuron disease 10.3
20 lateral sclerosis 10.2
21 senile cataract 10.2 CRYAA SOD1
22 hepatitis 10.2
23 myoclonus 10.1
24 spinocerebellar ataxia 18 10.1 ATXN3 ATXN7
25 arthrogryposis, distal, type 9 10.1
26 diabetes mellitus, noninsulin-dependent 10.1
27 myotonic dystrophy 1 10.1
28 myasthenia gravis 10.1
29 liver disease 10.1
30 muscle disorders 10.1
31 spinal muscular atrophy 10.1
32 brugada syndrome 10.1
33 nonalcoholic fatty liver disease 10.1
34 gynecomastia 10.1
35 myopathy 10.1
36 essential tremor 10.1
37 fatty liver disease 10.1
38 myotonic dystrophy 10.1
39 myasthenia gravis congenital 10.1
40 myotonia atrophica 10.1
41 myotonia 10.1
42 dedifferentiated liposarcoma 10.1
43 dermatitis 10.1
44 bullous pemphigoid 10.1
45 neuroblastoma 10.1
46 spinocerebellar ataxia 6 10.1 ATXN3 ATXN7
47 nervous system disease 10.1 ATXN3 HTT SOD1
48 primary cerebellar degeneration 10.1 ATXN1 ATXN3
49 spinocerebellar ataxia 17 10.1 ATXN3 ATXN7
50 leukemia 10.1

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

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

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
4 dysphonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001618
5 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
6 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144
7 hyporeflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001265
8 gynecomastia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000771
9 erectile abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0100639
10 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
11 testicular atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000029
12 abnormal circulating lipid concentration 33 occasional (7.5%) HP:0003119
13 tremor 33 HP:0001337
14 dysphagia 33 HP:0002015
15 abnormality of movement 60 Very frequent (99-80%)
16 sensory neuropathy 33 HP:0000763
17 peripheral neuropathy 33 HP:0009830
18 abnormality of lipid metabolism 60 Occasional (29-5%)
19 abnormality of the mouth 33 HP:0000153
20 fasciculations 33 HP:0002380
21 limb muscle weakness 33 HP:0003690
22 calf muscle hypertrophy 33 HP:0008981
23 bulbar palsy 33 HP:0001283
24 elevated serum creatine kinase 33 HP:0003236
25 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
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

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:

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 ATXN3 ATXN7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.74 SOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.74 ATXN3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.74 SOD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.74 ATXN3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.74 ATXN3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.74 ATXN3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.74 SOD1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.74 ATXN7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.74 SOD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.74 ATXN3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.74 ATXN7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.74 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.74 SOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 ATXN7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.74 SOD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.74 ATXN3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.74 ATXN3 ATXN7 SOD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 SOD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 ATXN7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.74 SOD1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.74 ATXN3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 ATXN3

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 AR ATXN1 ATXN3 ATXN7 FMR1 HSP90AA1
Sources

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

About this section

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

(show top 50) (show all 295)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0, 481-30-1 6013 10204
2
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable 53-03-2 5865
3
Docetaxel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 114977-28-5 148124
4
Goserelin Approved Phase 4,Phase 2 65807-02-5 5311128 47725
5
Eplerenone Approved Phase 4 107724-20-9 150310 443872
6
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 5949-44-0
7
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-18-4 6010
8
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 315-37-7 9416
9 Deslorelin Investigational, Vet_approved Phase 4,Phase 2 57773-65-6
10 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
16 glucocorticoids Phase 4,Phase 2,Phase 1,Not Applicable
17
Abiraterone acetate Phase 4,Phase 2,Phase 1,Not Applicable 154229-18-2 57336518
18 Steroid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1,Not Applicable
20 Contraceptive Agents Phase 4,Phase 2,Phase 1
21 Antimitotic Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Natriuretic Agents Phase 4,Phase 3,Early Phase 1
23 Antihypertensive Agents Phase 4,Phase 3
24 Mineralocorticoids Phase 4,Phase 3,Phase 2,Early Phase 1
25 Diuretics, Potassium Sparing Phase 4,Phase 3,Early Phase 1
26 diuretics Phase 4,Phase 3,Early Phase 1
27 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3,Early Phase 1
28 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Insulin, Globin Zinc Phase 4
30 insulin Phase 4
31 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Luteolytic Agents Phase 4,Phase 2,Phase 1
33 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
34 Triptorelin Pamoate Phase 4,Phase 2
35
Progesterone Approved, Vet_approved Phase 2, Phase 3,Phase 1,Early Phase 1 57-83-0 5994
36
Bicalutamide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 90357-06-5 2375 56069
37
Tibolone Approved, Investigational Phase 3 5630-53-5
38
Letrozole Approved, Investigational Phase 2, Phase 3 112809-51-5 3902
39
tannic acid Approved Phase 3,Phase 2 1401-55-4
40
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
41
Capecitabine Approved, Investigational Phase 3,Phase 2,Phase 1 154361-50-9 60953
42
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
43
Carboplatin Approved Phase 3,Phase 2 41575-94-4 38904 10339178 498142
44
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
45
Benzoyl peroxide Approved Phase 3 94-36-0 7187
46
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
47
Spironolactone Approved Phase 3,Early Phase 1 52-01-7, 1952-01-7 5833
48
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
50 Benzimidazole Experimental, Investigational Phase 3 51-17-2

Interventional clinical trials:

(show top 50) (show all 244)
# Name Status NCT ID Phase Drugs
1 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
2 Reduction of Left Ventricular Hypertrophy After Eplerenone Therapy Completed NCT03186742 Phase 4 Eplerenone 50 mg Tab
3 Testosterone for Men With Insulin Treated Type 2 Diabetes Completed NCT00349362 Phase 4 Testosterone;0.9% saline
4 Cognitive Effects of Androgen Receptor Directed Therapies for Advanced Prostate Cancer Recruiting NCT03016741 Phase 4 Prednisone;Abiraterone Acetate;Enzalutamide
5 Cabazitaxel Versus the Switch to Alternative AR-targeted Agent (Enzalutamide or Abiraterone) in Metastatic Castration-resistant Prostate Cancer (mCRPC) Patients Previously Treated With Docetaxel and Who Rapidly Failed a Prior AR-targeted Agent Active, not recruiting NCT02485691 Phase 4 cabazitaxel XRP6258;enzalutamide;abiraterone acetate;prednisone
6 A Study to Investigate the Effects of Tibolone (Livial®) on Breast Tissue in Postmenopausal Women With Breast Cancer (Study 32971)(P06469) Completed NCT00725374 Phase 3 tibolone;placebo
7 Vaginal Progesterone Supplementation in Women With PCOS Undergoing Ovulation Induction With Letrozole Completed NCT03440359 Phase 2, Phase 3 Progesterone Vaginal Gel 8%;Letrozole Oral Tablet;Ovidrel 250 MCG Per 0.5 ML Prefilled Syringe
8 Positive Surgical Margins Rate and EGFR Family Members Expression in Prostate Cancer Treated With Bicalutamide Completed NCT00421694 Phase 2, Phase 3 Bicalutamide
9 Hormone and Information Processing Study Completed NCT00539305 Phase 3 testosterone gel;placebo gel
10 Bicalutamide in Treatment of Androgen Receptor (AR) Positive Metastatic Triple Negative Breast Cancer Recruiting NCT03055312 Phase 3 TPC;Bicalutamide 150 mg
11 Randomized Double-blind Study on the Benefit of Spironolactone for Treating Acne of Adult Woman. Recruiting NCT03334682 Phase 3 spironolactone;Doxycycline
12 A Study of SHR3680 in Treating Patients With Hormone Sensitive Prostate Cancer Recruiting NCT03520478 Phase 3 SHR3680;Bicalutamide
13 ProBio: A Biomarker Driven Study in Patients With Metastatic Castrate Resistant Prostate Cancer Recruiting NCT03903835 Phase 3 Enzalutamide Oral Capsule [Xtandi];Abiraterone Oral Tablet [Zytiga];Carboplatin;Cabazitaxel 60 mg Solution for Injection;Docetaxel Injectable Solution;Radium Chloride Ra-223
14 An Asian Study to Evaluate Efficacy and Safety of Oral Enzalutamide in Progressive Metastatic Prostate Cancer Participants Active, not recruiting NCT02294461 Phase 3 Enzalutamide;Placebo
15 Study of 18F-DCFPyL PET/CT Imaging in Patients With Prostate Cancer Not yet recruiting NCT03800784 Phase 2, Phase 3 18F-DCFPyL Injection
16 A Study of Galeterone Compared to Enzalutamide In Men Expressing Androgen Receptor Splice Variant-7 mRNA (AR-V7) Metastatic CRPC Terminated NCT02438007 Phase 3 Galeterone;Enzalutamide
17 Biomarker Study of Neoadjuvant Vitamin E in Patients With Locally Treatable Prostate Cancer Terminated NCT00809458 Phase 3 Vitamin E
18 AR-inhibitor Bicalutamide in Treating Patients With TNBC Unknown status NCT02353988 Phase 2 Bicalutamide
19 A Study to Determine the Value of 18F-FAZA PET Imaging in Patients With Breast Cancer Unknown status NCT00771381 Phase 2 18F-FAZA PET scan;FluGlucoScan Injection (18F-FDB) PET scan
20 Abiraterone Acetate in Patients With Relapsed and/or Metastatic Salivary Gland Cancers Unknown status NCT02867852 Phase 2 Abiraterone acetate
21 Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA) Completed NCT00303446 Phase 2 Dutasteride;Placebo
22 Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02024932 Phase 2 BVS857;Placebo
23 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
24 Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
25 Dynamics of Androgen Receptor Genomics and Transcriptomics After Neoadjuvant Androgen Ablation Completed NCT03297385 Phase 2 Enzalutamide
26 Oral VT-464 in Patients With Castration-Resistant Prostate Cancer Previously Treated With Enzalutamide, Androgen Receptor Positive Triple-Negative Breast Cancer Patients, and Men With ER Positive Breast Cancer Completed NCT02130700 Phase 2 VT-464: given orally twice daily in 28-day cycles;VT-464: given orally once daily in 28-day cycles
27 Abiraterone Acetate Combined With Dutasteride for Metastatic Castrate Resistant Prostate Cancer Completed NCT01393730 Phase 2 Abiraterone acetate;Dutasteride;Prednisone
28 AR and ER Imaging in Metastatic Breast Cancer Completed NCT01988324 Phase 2
29 Phase II Study of GTx024 in Women With Metastatic Breast Cancer Completed NCT01616758 Phase 2 GTx-024 9mg
30 Cabazitaxel Versus the Switch to Alternative AR Targeted Therapy Enzalutamide or Abiraterone in Metastatic Castration-Resistant Prostate Cancer (mCRPC) Primary Resistant Patients to Abiraterone or Enzalutamide Completed NCT02379390 Phase 2 Cabazitaxel XRP6258;Ezalutamide;Abiraterone acetate;Prednisone
31 Early Switch From First-Line Docetaxel/Prednisone to Cabazitaxel/Prednisone and the Opposite Sequence, Exploring Molecular Markers in Men With Metastatic Castration-Resistant Prostate Cancer (mCRPC) Completed NCT01718353 Phase 2 DOCETAXEL (XRP6976);CABAZITAXEL (XRP6258);Prednisone
32 CYP17 Lyase and Androgen Receptor Inhibitor Treatment With Seviteronel Trial (INO-VT-464-006; NCT02580448) Completed NCT02580448 Phase 1, Phase 2 Seviteronel
33 A Phase 2 Study of ASC-J9 Cream in Acne Vulgaris Completed NCT00525499 Phase 2 ASC-J9 cream;placebo
34 Mifepristone (RU-486) in Androgen Independent Prostate Cancer Completed NCT00140478 Phase 2 Mifepristone
35 Androgen Deprivation Therapy and Vorinostat Followed by Radical Prostatectomy in Treating Patients With Localized Prostate Cancer Completed NCT00589472 Phase 2 Bicalutamide;Goserelin Acetate;Leuprolide Acetate;Vorinostat
36 Abiraterone Acetate in Treating Postmenopausal Women With Advanced or Metastatic Breast Cancer Completed NCT00755885 Phase 1, Phase 2 abiraterone acetate
37 Diindolylmethane in Treating Patients With Stage I or Stage II Prostate Cancer Undergoing Radical Prostatectomy Completed NCT00888654 Phase 2 B-Dim
38 Topical ASC-J9 Cream for Acne Completed NCT01289574 Phase 2 ASC-J9
39 Maximal Suppression of the Androgen Axis in Clinically Localized Prostate Cancer Completed NCT00298155 Phase 2 goserelin with dutasteride;goserelin with bicalutamide and dutasteride;goserelin with bicalutamide and dutasteride and ketoconazole
40 Once-daily Oral Seviteronel in Patients With Castration-Resistant Prostate Cancer Progressing on Enzalutamide or Abiraterone. Completed NCT02445976 Phase 2 Seviteronel: given orally once daily in 28-day cycles
41 Enzalutamide in Patients With High-risk Prostate Cancer Completed NCT01927627 Phase 2 enzalutamide
42 Study to Assess Enobosarm (GTx-024) in Postmenopausal Women With Stress Urinary Incontinence Completed NCT03241342 Phase 2 GTx 024;Placebo
43 Efficacy and Safety of S-Equol on Men With Benign Prostatic Hyperplasia Completed NCT00962390 Phase 2 S-equol;Placebo
44 A Study of Sipuleucel-T With Administration of Enzalutamide in Men With Metastatic Castrate-Resistant Prostate Cancer Completed NCT01981122 Phase 2 enzalutamide
45 Finasteride in Treating Patients With Stage II Prostate Cancer Who Are Undergoing Surgery Completed NCT00438464 Phase 2 Finasteride
46 A Study to Assess the Safety of Continued Administration of MDV3100 in Subjects With Prostate Cancer Who Showed Benefit From Prior Exposure to MDV3100 Completed NCT01534052 Phase 2 Enzalutamide
47 Safety and Efficacy Studies of Panobinostat and Bicalutamide in Patients With Recurrent Prostate Cancer After Castration Completed NCT00878436 Phase 1, Phase 2 Panobinostat;Bicalutamide
48 Study of Enzalutamide (Formerly MDV3100) as a Neoadjuvant Therapy for Patients Undergoing Prostatectomy for Localized Prostate Cancer Completed NCT01547299 Phase 2 Enzalutamide;Leuprolide;Dutasteride
49 Study of Erlotinib in Patients With Non-Metastatic Prostate Cancer With a Rising Prostate Specific Antigen (PSA) on Hormone Therapy Completed NCT00148772 Phase 2 Erlotinib (Tarceva)
50 A Study to Determine Safety and Tolerability of Enzalutamide (MDV3100) in Combination With Abiraterone Acetate in Bone Metastatic Castration-Resistant Prostate Cancer Patients Completed NCT01650194 Phase 2 enzalutamide;abiraterone acetate;prednisone

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

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

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

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

# Genetic test Affiliating Genes
1 Bulbo-Spinal Atrophy X-Linked 30 AR
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Anatomical Context for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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

42
Prostate, Spinal Cord, Brain, Tongue, Bone, Skin, Testes
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Publications for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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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
Dysphagia in X-linked bulbospinal muscular atrophy (Kennedy disease). ( 19616433 )
2009
28
Proton magnetic resonance spectroscopy in Kennedy disease. ( 19019384 )
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
Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. ( 12221177 )
2002
41
Proton MRS in Kennedy disease: absolute metabolite and macromolecular concentrations. ( 12203763 )
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
Sources

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

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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.231_239delGCAGCAGCA (p.Gln78_Gln80del) deletion Benign/Likely benign rs3032358 GRCh37 Chromosome X, 66765219: 66765227
2 AR NM_000044.4(AR): c.231_239delGCAGCAGCA (p.Gln78_Gln80del) deletion Benign/Likely benign rs3032358 GRCh38 Chromosome X, 67545377: 67545385
3 AR NM_000044.4(AR): c.2391G> A (p.Trp797Ter) single nucleotide variant Pathogenic rs137852565 GRCh37 Chromosome X, 66941747: 66941747
4 AR NM_000044.4(AR): c.2391G> A (p.Trp797Ter) single nucleotide variant Pathogenic rs137852565 GRCh38 Chromosome X, 67721905: 67721905
5 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh37 Chromosome X, 66905872: 66905872
6 AR NM_000044.4(AR): c.1789G> A (p.Ala597Thr) single nucleotide variant Pathogenic rs137852569 GRCh38 Chromosome X, 67686030: 67686030
7 AR NM_000044.4(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del) NT expansion Pathogenic rs3032358 GRCh37 Chromosome X, 66765160: 66765162
8 AR NM_000044.4(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del) NT expansion Pathogenic rs3032358 GRCh38 Chromosome X, 67545318: 67545320
9 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh37 Chromosome X, 66942786: 66942786
10 AR NM_000044.4(AR): c.2567G> A (p.Arg856His) single nucleotide variant Pathogenic rs9332971 GRCh38 Chromosome X, 67722944: 67722944
11 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh37 Chromosome X, 66942740: 66942740
12 AR NM_000044.4(AR): c.2521C> T (p.Arg841Cys) single nucleotide variant Pathogenic rs137852577 GRCh38 Chromosome X, 67722898: 67722898
13 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh37 Chromosome X, 66765160: 66765162
14 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh38 Chromosome X, 67545318: 67545320
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 GRCh38 Chromosome X, 67723746: 67723746
18 AR NM_000044.4(AR): c.2668G> A (p.Val890Met) single nucleotide variant Pathogenic rs886041133 GRCh37 Chromosome X, 66943588: 66943588
19 AR NM_000044.4(AR) undetermined variant Uncertain significance GRCh37 Chromosome X, 66765160: 66765162
20 AR NM_000044.4(AR) undetermined variant Uncertain significance GRCh38 Chromosome X, 67545318: 67545320
21 AR NM_000044.4(AR) NT expansion risk factor rs3032358 GRCh37 Chromosome X, 66765160: 66765162
22 AR NM_000044.4(AR) NT expansion risk factor rs3032358 GRCh38 Chromosome X, 67545318: 67545320
23 AR NM_000044.4(AR) NT expansion Pathogenic rs3032358 GRCh37 Chromosome X, 66765160: 66765162
24 AR NM_000044.4(AR) NT expansion Pathogenic rs3032358 GRCh38 Chromosome X, 67545318: 67545320
25 AR NM_000044.4(AR): c.172_174CAG(7_34) (p.Gln66_Gln80del) NT expansion Benign rs3032358 GRCh37 Chromosome X, 66765160: 66765162
26 AR NM_000044.4(AR): c.172_174CAG(7_34) (p.Gln66_Gln80del) NT expansion Benign rs3032358 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 GRCh38 Chromosome X, 67545383: 67545385
32 AR NM_000044.4(AR): c.237_239dup (p.Gln80_Glu81insGln) duplication Benign/Likely benign rs3032358 GRCh37 Chromosome X, 66765225: 66765227
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 rs1555969553 GRCh38 Chromosome X, 67545438: 67545438
40 AR NM_000044.4(AR): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic rs1555969553 GRCh37 Chromosome X, 66765280: 66765280
41 AR NM_000044.4(AR): c.1418_1420delGCG (p.Gly473del) deletion Likely benign rs746853821 GRCh38 Chromosome X, 67546564: 67546566
42 AR NM_000044.4(AR): c.1418_1420delGCG (p.Gly473del) deletion Likely benign rs746853821 GRCh37 Chromosome X, 66766406: 66766408
43 AR NM_000044.4(AR): c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) insertion Likely benign rs1206863775 GRCh37 Chromosome X, 66765160: 66765161
44 AR NM_000044.4(AR): c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) insertion Likely benign rs1206863775 GRCh38 Chromosome X, 67545318: 67545319
45 AR NM_000044.4(AR) duplication Benign/Likely benign rs3032358 GRCh37 Chromosome X, 66765204: 66765227
46 AR NM_000044.4(AR) duplication Benign/Likely benign rs3032358 GRCh38 Chromosome X, 67545362: 67545385
47 AR NM_000044.4(AR): c.2698A> T (p.Ile900Phe) single nucleotide variant Likely pathogenic rs1555998108 GRCh38 Chromosome X, 67723776: 67723776
48 AR NM_000044.4(AR): c.2698A> T (p.Ile900Phe) single nucleotide variant Likely pathogenic rs1555998108 GRCh37 Chromosome X, 66943618: 66943618
49 AR NM_000044.4(AR): c.225_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGln) duplication Benign rs3032358 GRCh37 Chromosome X, 66765213: 66765227
50 AR NM_000044.4(AR): c.225_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGln) duplication Benign rs3032358 GRCh38 Chromosome X, 67545371: 67545385
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Expression for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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

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

# Super pathways Score Top Affiliating Genes
1
Akt Signaling 65
Show member pathways
 12.78 AR ATXN1 ATXN3 ATXN7 HSP90AA1 HTT
2
Neuroscience 4
11.79 ATXN1 FMR1 HTT SOD1
3
Protein processing in endoplasmic reticulum 38
11.14 ATXN3 CRYAA DNAJB2 HSP90AA1
4
Regulation of Androgen receptor activity 1
11.02 AR HSP90AA1
5
FOXA1 transcription factor network 1
Show member pathways
 10.92 AR SOD1
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GO Terms for Spinal and Bulbar Muscular Atrophy, X-Linked 1

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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 9.9 AR ATXN1 ATXN3 ATXN7 CRYAA DNAJB2
2 nucleus GO:0005634 9.73 AFF2 AR ATXN1 ATXN3 ATXN7 CRYAA
3 protein-containing complex GO:0032991 9.71 AR HSP90AA1 HTT SOD1
4 nuclear matrix GO:0016363 9.54 ATXN1 ATXN3 ATXN7
5 nuclear inclusion body GO:0042405 9.32 ATXN1 ATXN3
6 nucleoplasm GO:0005654 9.32 AR ATXN1 ATXN3 ATXN7 CRYAA FMR1
7 cytoplasm GO:0005737 10 AR ATXN1 ATXN3 ATXN7 CRYAA DNAJB2

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 9.58 AR ATXN3 ATXN7
2 regulation of cellular response to heat GO:1900034 9.37 HSP90AA1 HSPB8
3 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.32 AR HTT
4 anterograde axonal transport GO:0008089 9.26 FMR1 SOD1
5 response to antibiotic GO:0046677 9.16 HSP90AA1 SOD1
6 regulation of protein ubiquitination GO:0031396 8.96 DNAJB2 HSP90AA1
7 protein refolding GO:0042026 8.8 CRYAA DNAJB2 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 unfolded protein binding GO:0051082 9.43 CRYAA DNAJB2 HSP90AA1
2 poly(U) RNA binding GO:0008266 9.32 ATXN1 FMR1
3 identical protein binding GO:0042802 9.17 ATXN1 CRYAA FMR1 HSP90AA1 HSPB8 HTT
4 poly(G) binding GO:0034046 9.16 ATXN1 FMR1
5 G-quadruplex RNA binding GO:0002151 8.96 AFF2 FMR1
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Sources for Spinal and Bulbar Muscular Atrophy, X-Linked 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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