SMAX1
MCID: SPN053
MIFTS: 59

Spinal and Bulbar Muscular Atrophy of Kennedy (SMAX1) malady

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

Aliases & Classifications for Spinal and Bulbar Muscular Atrophy of Kennedy

Aliases & Descriptions for Spinal and Bulbar Muscular Atrophy of Kennedy:

Name: Spinal and Bulbar Muscular Atrophy of Kennedy 54 13
Kennedy Disease 12 50 24 25 56 66 52
Sbma 12 23 50 24 25 56 66
X-Linked Spinal and Bulbar Muscular Atrophy 12 50 24 25 51 56
Spinal and Bulbar Muscular Atrophy 71 23 50 24 25 66
Spinobulbar Muscular Atrophy 12 50 24 52
Kennedy's Disease 12 25 51 14
Bulbospinal Muscular Atrophy 50 24 51
Kennedy Spinal and Bulbar Muscular Atrophy 25 66
X-Linked Bulbospinal Amyotrophy 50 56
Bulbo-Spinal Atrophy, X-Linked 42 69
X-Linked Bulbo-Spinal Atrophy 12 29
Smax1 56 66
Kd 25 66
Spinal and Bulbar Muscular Atrophy, X-Linked 1 54
Spinal and Bulbar Muscular Atrophy X-Linked 1 66
Bulbospinal Neuronopathy, X-Linked Recessive 69
Bulbospinal Neuronopathy X-Linked Recessive 66
X-Linked Spinalbulbar Muscular Atrophy 23
Bulbospinal Muscular Atrophy, X-Linked 25
X-Linked Spinal-Bulbar Muscle Atrophy 71
X-Linked Bulbospinal Muscular Atrophy 56
Bulbospinal Muscular Atrophy X-Linked 66
Spinal Bulbar Muscular Atrophy 12
Atrophy, Muscular, Spinobulbar 69
Bulbospinal Neuronopathy 69
Kennedy’s Disease 23
Kennedy Syndrome 52
X-Linked Bsma 56
Xbsn 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 313200
Disease Ontology 12 DOID:0060161
NCIt 47 C85233
SNOMED-CT 64 230253001
Orphanet 56 ORPHA481
UMLS via Orphanet 70 C0393547 C0752353 C1839259
ICD10 via Orphanet 34 G12.2
UMLS 69 C1839259

Summaries for Spinal and Bulbar Muscular Atrophy of Kennedy

NINDS : 51 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 of Kennedy, also known as kennedy disease, is related to foster-kennedy syndrome and abl1 kd-related altered drug metabolism, and has symptoms including muscular hypotonia, dysarthria and gait disturbance. An important gene associated with Spinal and Bulbar Muscular Atrophy of Kennedy is AR (Androgen Receptor), and among its related pathways/superpathways are Akt Signaling and Neuroscience. The drugs Doxycycline and Levonorgestrel have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

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

Genetics Home Reference : 25 Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).

NIH Rare Diseases : 50 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. last updated: 9/21/2015

OMIM : 54 Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is... (313200) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Spinal and bulbar muscular atrophy (SBMA) is a debilitating neurodegenerative disorder resulting in... more...

GeneReviews: NBK1333

Related Diseases for Spinal and Bulbar Muscular Atrophy of Kennedy

Diseases related to Spinal and Bulbar Muscular Atrophy of Kennedy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 foster-kennedy syndrome 12.3
2 abl1 kd-related altered drug metabolism 11.8
3 kawasaki disease 11.7
4 zap-70 deficiency 10.8
5 malignant hyperthermia susceptibility 1 10.8
6 kniest dysplasia 10.8
7 whiplash 10.1 ATXN1 ATXN3
8 hemochromatosis, type 2a 10.1 ATXN3 HTT SOD1
9 ectodermal dysplasia, hypohidrotic, with immune deficiency 10.0 AFF2 FMR1
10 substance-induced psychosis 10.0 ATXN3 HTT SOD1
11 muscular atrophy 10.0
12 epithelioid type angiomyolipoma 10.0 ATXN3 HTT SOD1
13 spastic paraplegia 50, autosomal recessive 10.0 ATXN3 ATXN7
14 hypocalcemia, autosomal dominant 2 9.9 ATXN3 ATXN7
15 hepatitis 9.9
16 charcot-marie-tooth disease, axonal, type 2l 9.9 ATXN3 ATXN7
17 cyprus facial neuromusculoskeletal syndrome 9.9 ATXN1 ATXN3 HSP90AA1
18 dermatitis 9.9
19 ciliary dyskinesia, primary, 18 9.9 ATXN3 ATXN7
20 bullous pemphigoid 9.8
21 cicatricial pemphigoid 9.8
22 long qt syndrome 5 9.8 CREBBP DNAJB2 HTT SOD1
23 holoprosencephaly 9.8 ATXN1 ATXN3 ATXN7
24 hepatitis c 9.8
25 leukemia 9.8
26 atopic dermatitis 9.8
27 epileptic encephalopathy, early infantile, 21 9.8 ATXN1 ATXN3 ATXN7
28 osteoporosis 9.8 ATXN1 ATXN3 ATXN7
29 proteus syndrome, somatic 9.8 ATXN1 ATXN3 ATXN7
30 nasopharyngitis 9.8
31 arachnoiditis 9.8
32 olfactory groove meningioma 9.8
33 dipetalonemiasis 9.8 ATXN1 ATXN3 ATXN7
34 hermansky-pudlak syndrome 3 9.8 ATXN1 ATXN3 ATXN7
35 contact dermatitis 9.7
36 meningitis 9.7
37 breast cancer 9.7
38 mucopolysaccharidosis is 9.7 ATXN1 ATXN3 CREBBP HTT SOD1
39 autoimmune hepatitis 9.6
40 lupus erythematosus 9.6
41 brain ischemia 9.6
42 intrahepatic cholestasis 9.6
43 psoriasis 9.6
44 lichen planus 9.6
45 ischemia 9.6
46 lichen planus pemphigoides 9.6
47 tuberculous meningitis 9.6
48 leprosy 9.6
49 cholestasis 9.6
50 poems syndrome 9.6

Graphical network of the top 20 diseases related to Spinal and Bulbar Muscular Atrophy of Kennedy:



Diseases related to Spinal and Bulbar Muscular Atrophy of Kennedy

Symptoms & Phenotypes for Spinal and Bulbar Muscular Atrophy of Kennedy

Symptoms by clinical synopsis from OMIM:

313200

Clinical features from OMIM:

313200

Human phenotypes related to Spinal and Bulbar Muscular Atrophy of Kennedy:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
2 dysarthria 56 32 Very frequent (99-80%) HP:0001260
3 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
4 dysphonia 56 32 Very frequent (99-80%) HP:0001618
5 type ii diabetes mellitus 56 32 Occasional (29-5%) HP:0005978
6 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
7 testicular atrophy 56 32 Occasional (29-5%) HP:0000029
8 abnormality of lipid metabolism 56 32 Occasional (29-5%) HP:0003119
9 decreased fertility 56 32 Very frequent (99-80%) HP:0000144
10 gynecomastia 56 32 Very frequent (99-80%) HP:0000771
11 hyporeflexia 56 32 Very frequent (99-80%) HP:0001265
12 erectile abnormalities 56 32 Very frequent (99-80%) HP:0100639
13 tremor 32 HP:0001337
14 dysphagia 32 HP:0002015
15 elevated serum creatine phosphokinase 32 HP:0003236
16 abnormality of movement 56 Very frequent (99-80%)
17 sensory neuropathy 32 HP:0000763
18 peripheral neuropathy 32 HP:0009830
19 abnormality of the mouth 32 HP:0000153
20 muscle cramps 32 HP:0003394
21 fasciculations 32 HP:0002380
22 bulbar palsy 32 HP:0001283
23 limb muscle weakness 32 HP:0003690
24 calf muscle hypertrophy 32 HP:0008981

UMLS symptoms related to Spinal and Bulbar Muscular Atrophy of Kennedy:


muscular fasciculation, muscle cramp, tremor, facial paresis

GenomeRNAi Phenotypes related to Spinal and Bulbar Muscular Atrophy of Kennedy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 ATXN3 ATXN7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.7 SOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.7 ATXN3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.7 SOD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.7 ATXN3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.7 ATXN3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.7 SOD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.7 ATXN7
9 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.7 SOD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.7 ATXN3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 ATXN7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.7 SOD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.7 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 ATXN7
15 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.7 SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.7 ATXN3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.7 ATXN3 ATXN7 SOD1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.7 SOD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 ATXN7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 ATXN3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 ATXN3

MGI Mouse Phenotypes related to Spinal and Bulbar Muscular Atrophy of Kennedy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1
2 nervous system MP:0003631 9.76 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1
3 endocrine/exocrine gland MP:0005379 9.73 SOD1 AR CREBBP FMR1 HSP90AA1 HTT
4 reproductive system MP:0005389 9.43 AR ATXN7 FMR1 HSP90AA1 HTT SOD1
5 skeleton MP:0005390 9.1 AR ATXN1 ATXN7 CREBBP HTT SOD1

Drugs & Therapeutics for Spinal and Bulbar Muscular Atrophy of Kennedy

Drugs for Spinal and Bulbar Muscular Atrophy of Kennedy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 847)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Levonorgestrel Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 797-63-7, 17489-40-6 13109
3
Montelukast Approved Phase 4,Phase 2,Phase 3 158966-92-8 5281040
4
Adenosine Approved, Investigational Phase 4 58-61-7 60961
5
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
6
Pentostatin Approved, Investigational Phase 4 53910-25-1 40926 439693
7
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
8
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-18-4 6010
9
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
10
Tenofovir Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 147127-20-6 464205
11
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3,Phase 1 57-63-6 5991
12
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-83-0 5994
13
Sertraline Approved Phase 4,Phase 3,Phase 2 79617-96-2 68617
14
Lopinavir Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 192725-17-0 92727
15
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 155213-67-5 392622
16
Drospirenone Approved Phase 4 67392-87-4 68873
17
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
18
Metformin Approved Phase 4,Phase 3,Phase 1,Phase 2 657-24-9 14219 4091
19
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 129618-40-2 4463
20
Clindamycin Approved, Vet_approved Phase 4,Phase 3,Phase 1 18323-44-9 29029
21
Emtricitabine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 143491-57-0 60877
22
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
23
Goserelin Approved Phase 4,Phase 3,Phase 2 65807-02-5 47725 5311128
24
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
25
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
26
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
27
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
28
Amphetamine Approved, Illicit Phase 4 300-62-9 5826 3007
29
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
30
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
31
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
32
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
33
Celecoxib Approved, Investigational Phase 4,Phase 2,Phase 3 169590-42-5 2662
34
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
35
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
36
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-28-2 5757 53477783
37
Cocaine Approved, Illicit Phase 4 50-36-2 5760 446220
38
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
39
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
40
Tofacitinib Approved, Investigational Phase 4 477600-75-2
41
Iron Approved Phase 4,Phase 2,Phase 3 7439-89-6 23925
42
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
43
Perphenazine Approved Phase 4 58-39-9 4748
44
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
45
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
46
Rosiglitazone Approved, Investigational Phase 4,Phase 2,Phase 3 122320-73-4 77999
47
Oxytocin Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-56-6 439302 53477758
48
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
49
Citalopram Approved Phase 4,Phase 3 59729-33-8 2771
50
Darunavir Approved Phase 4,Phase 1,Phase 2 635728-49-3, 206361-99-1 213039

Interventional clinical trials:

(show top 50) (show all 1509)
id Name Status NCT ID Phase
1 Norplant and Irregular Bleeding/Spotting Unknown status NCT00064766 Phase 4
2 Comparison of Daily Mometasone Furoate Nasal Spray Alone Versus a Combination With Montelukast for Treatment of Chronic Rhinosinusitis With Asthma After Functional Endoscopic Sinus Surgery Unknown status NCT02110654 Phase 4
3 Efficacy and Safety of Nipent, Cytoxan and Rituxan in the Treatment of Chronic Lymphocytic Leukemia. Unknown status NCT00131313 Phase 4
4 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4
5 Testosterone for Men With Insulin Treated Type 2 Diabetes Completed NCT00349362 Phase 4
6 A Neuroimaging Investigation of Brain Activity in Major Depressive Disorder and Bipolar Disorder Completed NCT00188942 Phase 4
7 Stage Matched Intervention to Increase Dual Method Use Completed NCT00436306 Phase 4
8 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
9 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
10 Interventions for Children With Attention and Reading Disorders Completed NCT01133847 Phase 4
11 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
12 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4
13 Effects of Dietary Nitrate From Vegetable/Fruit Juice on Cerebral Blood Flow Parameters Completed NCT01169662 Phase 4
14 Healthy Youth Places: A Program to Promote Nutrition and Physical Activity in Adolescents Completed NCT00059527 Phase 4
15 Study of Effects of Tenofovir on Bone Health and Kidneys During Pregnancy and Breastfeeding Completed NCT01066858 Phase 4
16 Behavioral and Environmetal Factors and Time to Delivery Completed NCT00740506 Phase 4
17 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
18 Immunogenicity of PCV-7 Vaccine in VLBW Infants Completed NCT00273325 Phase 4
19 A Study of EGb 761® (Tanakan®) in Dementia of Alzheimer Type Onset in Patients Suffering From Memory Complaints Completed NCT00276510 Phase 4
20 IMPAACT 1077HS: Examining Benefits of HAART Continuation in Postpartum Women Completed NCT00955968 Phase 4
21 BRAIN - Home Intervention Trial Completed NCT00639184 Phase 4
22 Obesity, Oral Contraception, and Ovarian Suppression Completed NCT00827632 Phase 4
23 MRI and Neurodevelopment in Preterm Infants Following Administration of High-Dose Caffeine Completed NCT00809055 Phase 4
24 The Maternal Lifestyle Study (MLS) Completed NCT00059540 Phase 4
25 Emergency Contraception (ECP): Reducing Unintended Pregnancies Completed NCT00067509 Phase 4
26 An Efficacy And Safety Study Evaluating Tofacitinib With And Without Methotrexate Compared To Adalimumab With Methotrexate Completed NCT02187055 Phase 4
27 Short-Term Versus Long-Term Treatment for Severe Premenstrual Syndrome (PMS) Completed NCT00318773 Phase 4
28 Lopinavir/Ritonavir (Kaletra) PK in Children Completed NCT00810108 Phase 4
29 Prevention of Iron Deficiency in Breastfed Infants Completed NCT01444261 Phase 4
30 Effect of Testosterone in Men With Erectile Dysfunction Completed NCT00512707 Phase 4
31 Chronic Pain in Spinal Cord Injury Completed NCT00006428 Phase 4
32 Morphine PK Subgroup Analysis Completed NCT01322191 Phase 4
33 Insulin Resistance, Polycystic Ovary Syndrome, and Bone Research Study Completed NCT00640224 Phase 4
34 Chronic Pain After Amputation Completed NCT00006427 Phase 4
35 Oxytocin Regimen to Prevent Atony and Postpartum Hemorrhage During Vaginal Delivery: 3-arm RCT Completed NCT00790062 Phase 4
36 Cognitive Effects of Androgen Receptor Directed Therapies for Advanced Prostate Cancer Recruiting NCT03016741 Phase 4
37 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 Recruiting NCT02485691 Phase 4
38 DB/Maintenance of Equetro (Carbamazepine) in Children With Acute Manic or Mixed Bipolar 1 Disorder Recruiting NCT02623504 Phase 4
39 Genomic Outcomes of Metformin Recruiting NCT02986659 Phase 4
40 Pharmacogenomic Decision Support With GeneSight Psychotropic to Guide the Treatment of Major Depressive Disorder Recruiting NCT02466477 Phase 4
41 Pharmacogenomic Decision Support With GeneSight Psychotropic to Guide the Treatment of Schizophrenia/Schizoaffective Disorder Recruiting NCT02573168 Phase 4
42 Negative Valence Brain Targets and Predictors of Anxiety and Depression Treatment Recruiting NCT01903447 Phase 4
43 Prophylactic Antibiotics After Functional Endoscopic Sinus Surgery: a Randomized, Double-blind Placebo Controlled Trial Recruiting NCT01919411 Phase 4
44 Pharmacokinetic Study of Antiretroviral Drugs and Related Drugs During and After Pregnancy Recruiting NCT00042289 Phase 4
45 Improvement of Outcomes in Draf III/Endoscopic Modified Lothrop Procedure Recruiting NCT02981017 Phase 4
46 Perimenopausal Effects of Estradiol on Reward Responsiveness Recruiting NCT02255175 Phase 4
47 Effects of Contraceptive Ring on Vaginal Microbiota, HIV Shedding and Local Immunity Recruiting NCT02445989 Phase 4
48 Systemic Corticosteroids in the Perioperative Management of Chronic Rhinosinusitis Without Nasal Polyps (CRSsNP) Recruiting NCT02119273 Phase 4
49 Prophylactic Oral Antibiotics on Sinonasal Outcomes Following Endoscopic Transsphenoidal Surgery for Pituitary Lesions Recruiting NCT03014687 Phase 4
50 Collaborative Wilms Tumour Africa Project Recruiting NCT01991652 Phase 4

Search NIH Clinical Center for Spinal and Bulbar Muscular Atrophy of Kennedy

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

Genetic Tests for Spinal and Bulbar Muscular Atrophy of Kennedy

Genetic tests related to Spinal and Bulbar Muscular Atrophy of Kennedy:

id Genetic test Affiliating Genes
1 Bulbo-Spinal Atrophy X-Linked 29
2 Spinal and Bulbar Muscular Atrophy 24 AR

Anatomical Context for Spinal and Bulbar Muscular Atrophy of Kennedy

MalaCards organs/tissues related to Spinal and Bulbar Muscular Atrophy of Kennedy:

39
Spinal Cord, Brain, Testes, Skin, Breast, Tongue, Skeletal Muscle

Publications for Spinal and Bulbar Muscular Atrophy of Kennedy

Variations for Spinal and Bulbar Muscular Atrophy of Kennedy

ClinVar genetic disease variations for Spinal and Bulbar Muscular Atrophy of Kennedy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AR NM_000044.4(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del) NT expansion Pathogenic rs193922933 GRCh37 Chromosome X, 66765160: 66765162
2 AR NM_000044.4(AR) undetermined variant Pathogenic GRCh38 Chromosome X, 67545318: 67545320
3 AR NM_000044.4(AR) NT expansion risk factor GRCh37 Chromosome X, 66765160: 66765162
4 AR NM_000044.4(AR) NT expansion Pathogenic GRCh38 Chromosome X, 67545318: 67545320

Expression for Spinal and Bulbar Muscular Atrophy of Kennedy

Search GEO for disease gene expression data for Spinal and Bulbar Muscular Atrophy of Kennedy.

Pathways for Spinal and Bulbar Muscular Atrophy of Kennedy

GO Terms for Spinal and Bulbar Muscular Atrophy of Kennedy

Cellular components related to Spinal and Bulbar Muscular Atrophy of Kennedy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.96 AR ATXN1 ATXN3 ATXN7 CREBBP DNAJB2
2 nucleus GO:0005634 9.7 AFF2 AR ATXN1 ATXN3 ATXN7 CREBBP
3 nuclear matrix GO:0016363 9.33 ATXN1 ATXN3 ATXN7
4 nuclear inclusion body GO:0042405 9.32 ATXN1 ATXN3
5 nucleoplasm GO:0005654 9.28 AR ATXN1 ATXN3 ATXN7 CREBBP FMR1
6 cytosol GO:0005829 10.02 AR ATXN1 ATXN3 ATXN7 DNAJB2 FMR1

Biological processes related to Spinal and Bulbar Muscular Atrophy of Kennedy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular response to UV GO:0034644 9.32 CREBBP FMR1
2 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.26 AR HTT
3 response to antibiotic GO:0046677 9.16 HSP90AA1 SOD1
4 regulation of protein ubiquitination GO:0031396 8.96 DNAJB2 HSP90AA1
5 protein refolding GO:0042026 8.62 DNAJB2 HSP90AA1

Molecular functions related to Spinal and Bulbar Muscular Atrophy of Kennedy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.56 AR ATXN7 CREBBP FMR1
2 poly(U) RNA binding GO:0008266 9.32 ATXN1 FMR1
3 G-quadruplex RNA binding GO:0002151 9.16 AFF2 FMR1
4 identical protein binding GO:0042802 9.1 ATXN1 ATXN3 FMR1 HSP90AA1 HTT SOD1
5 poly(G) binding GO:0034046 8.96 ATXN1 FMR1

Sources for Spinal and Bulbar Muscular Atrophy of Kennedy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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