MCID: 49X006
MIFTS: 40

49, Xxxxy Syndrome

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 49, Xxxxy Syndrome

MalaCards integrated aliases for 49, Xxxxy Syndrome:

Name: 49, Xxxxy Syndrome 20
49,xxxxy Syndrome 43 58 70
Xxxxy Syndrome 20 43
49,xxxxy Chromosomal Anomaly 43
Chromosome Xxxxy Syndrome 43
Xxxxy Aneuploidy 43
49,xxxxy 20

Characteristics:

Orphanet epidemiological data:

58
49,xxxxy syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 49, Xxxxy Syndrome

MedlinePlus Genetics : 43 49,XXXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.Boys and men with 49,XXXXY syndrome have mild or moderate intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. People with 49,XXXXY syndrome tend to be shy and friendly, but problems with speech and communication can contribute to behavioral issues, including irritability, difficulty tolerating frustration, defiant behavior, and outbursts or temper tantrums.49,XXXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected infants and young boys are often shorter than their peers, but some catch up in height later in childhood or adolescence.Other physical differences associated with 49,XXXXY syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals have distinctive facial features that can include widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), and a flat bridge of the nose. Dental abnormalities are also common in this disorder.49,XXXXY syndrome disrupts male sexual development. The penis is often short and underdeveloped, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes do not produce sperm, so all men with 49,XXXXY syndrome are infertile.

MalaCards based summary : 49, Xxxxy Syndrome, also known as 49,xxxxy syndrome, is related to hypogonadotropic hypogonadism and 48,xyyy. The drugs Cycloserine and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include testes, prostate and bone, and related phenotypes are intellectual disability and global developmental delay

GARD : 20 49,XXXXY syndrome is a type of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Signs and symptoms of 49,XXXXY syndrome can vary but may include learning difficulties or intellectual disability ; low muscle tone; hypogonadism ; infertility; delayed growth; distinctive facial features; and a variety of birth defects that may affect the heart, bones, brain and/or kidneys. It is usually not inherited and caused by a random error in cell division. Treatment depends on the features in each person and is often managed by a multidisciplinary team.

Wikipedia : 73 49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in... more...

Related Diseases for 49, Xxxxy Syndrome

Diseases related to 49, Xxxxy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 11.3
2 48,xyyy 10.6
3 hypogonadism 10.5
4 synostosis 10.4
5 hypotonia 10.4
6 patent ductus arteriosus 1 10.3
7 radioulnar synostosis 10.3
8 47,xyy 10.3
9 48, xxxx 10.3
10 hypertelorism 10.3
11 nondisjunction 10.3
12 hydronephrosis 10.3
13 penis agenesis 10.3
14 infertility 10.2
15 49, xxxxx 10.2
16 cleft palate, isolated 10.2
17 down syndrome 10.2
18 cryptorchidism, unilateral or bilateral 10.2
19 heart septal defect 10.2
20 agnosia 10.2
21 cataract 10.2
22 sex-chromosome anomaly 10.2
23 hydrops fetalis, nonimmune 10.1
24 lymphatic malformation 7 10.1
25 scoliosis 10.1
26 epicanthus 10.0
27 strabismus 10.0
28 thrombophilia due to thrombin defect 10.0
29 ureterocele 10.0
30 renal hypodysplasia/aplasia 1 10.0
31 vesicoureteral reflux 1 10.0
32 taurodontism 10.0
33 yemenite deaf-blind hypopigmentation syndrome 10.0
34 branchiootic syndrome 1 10.0
35 dermatitis, atopic 10.0
36 anxiety 10.0
37 cyanosis, transient neonatal 10.0
38 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
39 proteinuria, chronic benign 10.0
40 pulmonary hypertension 10.0
41 aphasia 10.0
42 apraxia 10.0
43 umbilical hernia 10.0
44 urinary tract infection 10.0
45 rickets 10.0
46 microcephaly 10.0
47 gestational diabetes 10.0
48 myopia 10.0
49 clubfoot 10.0
50 gonadal dysgenesis 10.0

Graphical network of the top 20 diseases related to 49, Xxxxy Syndrome:



Diseases related to 49, Xxxxy Syndrome

Symptoms & Phenotypes for 49, Xxxxy Syndrome

Human phenotypes related to 49, Xxxxy Syndrome:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
4 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
5 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
6 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
7 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
8 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
9 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
10 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
11 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
12 hypotonia 31 hallmark (90%) HP:0001252
13 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
14 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
15 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
16 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
17 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
18 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
19 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
20 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
21 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
22 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
23 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
24 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
25 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
26 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
27 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
28 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
29 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
30 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
31 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
32 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
33 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
34 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
35 down-sloping shoulders 58 31 frequent (33%) Frequent (79-30%) HP:0200021
36 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
37 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
38 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
39 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
40 renal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000110
41 seizure 31 frequent (33%) HP:0001250
42 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
43 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
44 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
45 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
46 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
47 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
48 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
49 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
50 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175

Drugs & Therapeutics for 49, Xxxxy Syndrome

Drugs for 49, Xxxxy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 330)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cycloserine Approved Phase 4 68-41-7 401 6234
2
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
3
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
4
Rivaroxaban Approved Phase 4 366789-02-8
5
Warfarin Approved Phase 4 81-81-2 54678486 6691
6
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
7
Dalteparin Approved Phase 4 9005-49-6
8
Enoxaparin Approved Phase 4 9005-49-6 772
9
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
10
tannic acid Approved Phase 4 1401-55-4
11
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
12
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
13
Phenprocoumon Approved, Investigational Phase 4 435-97-2 9908 54680692
14
Insulin aspart Approved Phase 4 116094-23-6 16132418
15
Insulin detemir Approved Phase 4 169148-63-4 5311023
16
Insulin glargine Approved Phase 4 160337-95-1
17
Insulin lispro Approved Phase 4 133107-64-9
18
Zinc Approved, Investigational Phase 4 7440-66-6 32051
19
Liraglutide Approved Phase 4 204656-20-2 44147092
20
Dihydroartemisinin Approved, Experimental, Investigational Phase 4 71939-50-9 6918483
21
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8 5079497
22
Morphine Approved, Investigational Phase 4 57-27-2 5288826
23
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
24
Teniposide Approved Phase 4 29767-20-2 34698
25
Daunorubicin Approved Phase 4 20830-81-3 30323
26
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
27
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
28
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
29
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
30
Enalaprilat Approved Phase 4 76420-72-9 6917719
31
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
32
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
33
Polyestradiol phosphate Approved Phase 4 28014-46-2
34
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
35
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
36
Desogestrel Approved Phase 4 54024-22-5 40973
37
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
38
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
39
Palmitic Acid Approved Phase 4 57-10-3 985
40
Ofloxacin Approved Phase 4 82419-36-1 4583
41
Fosfomycin Approved Phase 4 23155-02-4 446987
42
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
43
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
44 Menaquinone Investigational Phase 4 1182-68-9
45
Coumarin Experimental Phase 4 91-64-5 323
46 Vitamins Phase 4
47 Anesthetics, General Phase 4
48 Anesthetics, Intravenous Phase 4
49 Excitatory Amino Acid Antagonists Phase 4
50 Anesthetics, Dissociative Phase 4

Interventional clinical trials:

(show top 50) (show all 233)
# Name Status NCT ID Phase Drugs
1 D-cycloserine for Relapse Prevention Following Intravenous Ketamine in Treatment-resistant Depression Unknown status NCT02772211 Phase 4 Ketamine;D-cycloserine;Placebo
2 Atrial Fibrillation and Ischemic Events With Rivaroxaban in Patients With Stable Coronary Artery Disease Study (AFIRE Study) Unknown status NCT02642419 Phase 4 Rivaroxaban and single antiplatelet drug (aspirin, clopidogrel or prasugrel);Rivaroxaban
3 Comparison of Anti-inflammatory Effects of Rivaroxaban Versus Dabigatran in Patients With Non-valvular Atrial Fibrillation (RIVAL-AF Study) -Multicenter Randomized Study- Unknown status NCT02331602 Phase 4 Rivaroxaban;Dabigatran
4 Rivaroxaban Once Daily Versus Dose-adjusted Vitamin K Antagonist on the Biomarkers in Acute Decompensated Heart Failure and Atrial Fibrillation (ROAD HF-AF) Unknown status NCT03490994 Phase 4 Rivaroxaban;Warfarin + LMWH
5 A Multicenter, Randomized, Double-blind, Double-dummy, Parallel Group, Active-controlled, Forced-titration, 12-week Comparison of Combined Angiotensin-neprilysin Inhibition With Sacubitril and Valsartan Versus Enalapril on Changes in Central Aortic Stiffness in Patients With Heart Failure and Reduced Ejection Fraction (HFrEF) Completed NCT02874794 Phase 4 LCZ696 (sacubitril/valsartan);Enalapril;Placebo of Enalapril;Placebo of LCZ696
6 Influence of Rivaroxaban Compared to Vitamin K Antagonist Treatment Upon Development of Cardiovascular Calcification in Patients With Atrial Fibrillation and/ or Pulmonary Embolism (IRIVASC- Trial) Completed NCT02066662 Phase 4 Rivaroxaban or Marcumar
7 A Randomized, Open-Label, Study to Evaluate the Immunogenicity of One Dose of Live Attenuated Influenza Vaccine (LAIV) Compared to One Dose of Trivalent Inactivated Influenza Vaccine (IIV) in Adults 18-49 Years of Age Completed NCT03101462 Phase 4
8 An Open-Label, Single-Arm Trial to Assess the Shedding, Immunogenicity, and Safety of FluMist Administered to Healthy Individuals 5-49 Years of Age Completed NCT00192140 Phase 4
9 EntrestoTM (LCZ696) In Advanced Heart Failure (LIFE Study) Completed NCT02816736 Phase 4 LCZ696;valsartan;LCZ696 placebo;valsartan placebo
10 Prevention of Stress Hyperglycemia With the Use of DPP-4 Inhibitors in Non-diabetic Patients Undergoing Non-cardiac Surgery, a Pilot Study Completed NCT02741687 Phase 4 Sitagliptin;Placebo;Supplemental insulin (insulin lispro);Supplemental insulin (insulin aspart);Long acting basal insulin (insulin detemir);Long acting basal insulin (insulin glargine)
11 Time Course of the Blood Pressure Lowering Effect of Liraglutide Therapy in Type 2 Diabetes Completed NCT01499108 Phase 4 liraglutide
12 A 52 Week, Open Label Evaluation of the Effects of Sacubitril/Valsartan (LCZ696) Therapy on Biomarkers, Myocardial Remodeling and Patient-reported Outcomes in Heart Failure With Reduced Left Ventricular Ejection Fraction. Completed NCT02887183 Phase 4 LCZ696 (sacubitril/valsartan)
13 Effectiveness of Dihydroartemisinin-piperaquine With or Without Primaquine on Gametocytes Plasmodium Falciparum in Mesoendemic Area of Indonesia Completed NCT01392014 Phase 4 dihydroartemisinin-piperaquine;dihydroartemisinin-piperaquine + primaquine
14 Evaluation of Impact Dihydroartemisinin-piperaquine Plus Primaquine on Malaria Transmission in Lempasing Village, Lampung Province, Southern Sumatra Completed NCT01389557 Phase 4 Dihydroartemisinin-piperaquine with primaquine
15 Change in SCIO (Scoring Clinical Index For Onychomycosis) in Toenail Onychomycosis Treating With Itraconazole Capsules Completed NCT00871728 Phase 4 Itraconazole
16 Treatment of High Risk Adult Acute Lymphoblastic Leukemia Completed NCT00853008 Phase 4 Vincristine;Daunorubicin;Prednisone;Mitoxantrone;Cytosine Arabinoside;Dexamethasone;Methotrexate (MTX);Cytarabine;ASP;Mercaptopurine;Teniposide;Hydrocortisone
17 Clinical Quality Assurance Study: Fractional CO2 Treatment of Acne Scars in Asians Completed NCT00748462 Phase 4
18 The Effect of Sitagliptin Treatment on Glucose Metabolism and Endothelial Function in Renal Transplant Recipients - JANUVIA-08 Completed NCT00740363 Phase 4 sitagliptin;placebo
19 Sitagliptin for the Prevention and Treatment of Hyperglycemia in Patients With Type 2 Diabetes Undergoing Cardiac Surgery Completed NCT02556918 Phase 4 Sitagliptin;Placebo;Regular Human Insulin;Insulin glargine;Supplemental insulin (Insulin lispro);Supplemental insulin (Insulin aspart)
20 A Study of Avelox for Treatment of Elderly Patients With Community Acquired Pneumonia Completed NCT00665327 Phase 4 Avelox (Moxifloxacin, BAY12-8039);Levofloxacin
21 The Bio-Clinical Effects of the (Sacubitril-Valsartan) Combination on Patients With Chronic Heart Failure Recruiting NCT04688294 Phase 4 Sacubitril-Valsartan
22 A Multicenter, Prospective, Randomized, Open-label, Blinded-endpoint, Phase 4 Study to Evaluate the Efficacy and Safety of Sacubitril/Valsartan Compared With Enalapril on Morbidity, Mortality, and NT-proBNP Change in Patients With Chronic Chagas' Cardiomyopathy Recruiting NCT04023227 Phase 4 Sacubitril/valsartan;Enalapril
23 The Effect of Oral vs. Non-oral Contraceptive Therapy on Bone Turnover Using 41Ca Methodology Active, not recruiting NCT02367846 Phase 4 Combined Oral Contraceptive (COC);Contraceptive Vaginal Ring (CVR)
24 A Multicenter, Randomized, Open-label, Parallel Group, Pilot Study to Evaluate the Use of Sacubitril/Valsartan in HeartMate 3 LVAD Recipients Not yet recruiting NCT04103554 Phase 4 Sacubitril-Valsartan;Standard of care
25 Effects of InFat™ Product (High Sn-2 Palmitic Acid) on Stool Biochemistry and Stool Characteristics in Formula-fed Term Chinese Infants: a Triple-blind, Randomized, Placebo-controlled Trial Terminated NCT00480948 Phase 4
26 Multi-center, Randomized, Open-label Trial to Evaluate the Efficacy of Oral Fosfomycin Versus Oral Levofloxacin Strategies in Complicated Urinary Tract Infections (FOCUS) Terminated NCT03697993 Phase 4 Fosfomycin tromethamine;Levofloxacin
27 A Randomized, Double-Blind, Placebo Controlled Trial to Evaluate the Efficacy of Fluviral™ Influenza Vaccine in Healthy Adults 18 to 49 Years of Age Unknown status NCT00216242 Phase 3
28 Effect of Additional Treatment With EXenatide in Patients With an Acute Myocardial Infarction (the EXAMI Trial) Unknown status NCT01254123 Phase 3 Exenatide infusion;Placebo infusion.
29 TK008: Randomized Phase III Trial of Haploidentical HCT With or Without an Add Back Strategy of HSV-Tk Donor Lymphocytes in Patients With High Risk Acute Leukemia Unknown status NCT00914628 Phase 3
30 A Multi-center, Prospective, Randomized, Double-blind Study to Assess the Impact of Sacubitril/Valsartan vs. Enalapril on Daily Physical Activity Using a Wrist Worn Actigraphy Device in Adult Chronic Heart Failure Patients Completed NCT02900378 Phase 3 LCZ696 (Sacubitril/Valsartan);Placebo of LCZ696 (Sacubitril/Valsartan);Enalapril;Placebo of Enalapril
31 A Prospective, Double-Blind, Randomized Trial to Demonstrate Equivalent Immunogenicity of CAIV-T and FLUMIST in Healthy Participants Ages 5 Through 49 Years Completed NCT00192335 Phase 3
32 A PHASE 3, RANDOMIZED, DOUBLE-BLIND TRIAL TO EVALUATE THE SAFETY AND IMMUNOGENICITY OF 3 LOTS OF 20-VALENT PNEUMOCOCCAL CONJUGATE VACCINE IN PNEUMOCOCCAL VACCINE-NAÏVE ADULTS 18 THROUGH 49 YEARS OF AGE Completed NCT03828617 Phase 3
33 A Phase 3, Multicenter, Randomized, Double-blind, Active Comparator-controlled Study to Evaluate the Safety, Tolerability, and Immunogenicity of V114 Followed by Administration of PNEUMOVAX™23 Six Months Later in Immunocompetent Adults Between 18 and 49 Years of Age at Increased Risk for Pneumococcal Disease (PNEU - DAY) Completed NCT03547167 Phase 3
34 Evaluation of the Immunogenicity and Safety of Two Preparations of Trivalent Recombinant Baculovirus-Expressed Hemagglutinin Influenza Vaccine Administered Intramuscularly in Healthy Adults Ages 18-49 Years. Completed NCT00328107 Phase 2, Phase 3
35 Double-Blind, Randomized, Active-Controlled Comparison of the Immunogenicity and Safety of Flublok® Quadrivalent Versus IIV4 in Healthy, Medically Stable Adults 18-49 Years of Age Completed NCT02290509 Phase 3
36 A Phase III, Randomized, Controlled, Observer-Blind, Single-Center Study to Evaluate the Consistency of Three Consecutive Lots of a Trivalent Subunit Influenza Vaccine Produced in Embryonated Hen Eggs in Healthy Subjects Aged 18 to 49 Years Completed NCT00617851 Phase 3
37 A Randomized, Double-Blind, Active Controlled Study to Evaluate the Immunogenicity of MEDI3250 in Adults 18 to 49 Years of Age Completed NCT00860067 Phase 2, Phase 3
38 A Randomized, Observer-blind, Multicenter, Phase 3 Study to Evaluate the Lot Consistency, Immunogenicity, and Safety of a Plant-Derived Quadrivalent Virus-Like Particle Influenza Vaccine in Healthy Adults 18-49 Years of Age Completed NCT03321968 Phase 3
39 A Randomized, Partially Blind Active Controlled Study to Evaluate the Immunogenicity of MEDI8662 in Adults 18 to 49 Years of Age Completed NCT00952705 Phase 3
40 A Phase II/III Double Blinded, Randomized, Controlled, Non-inferiority Trial to Evaluate the Immunogenicity and Safety of Tri Fluvac, a Seasonal Trivalent Inactivated Split Virion Influenza Vaccine, in Healthy Thai Subjects Aged 18-49 Years Completed NCT03390166 Phase 2, Phase 3
41 A Phase III, Open-Label Clinical Trial to Study the Safety and Immunogenicity of V110 in Subjects 50 Years of Age and Older and in Subjects 2 to 49 Years of Age at Increased Risk for Pneumococcal Disease, From the Russian Population Completed NCT01734239 Phase 3
42 Evaluation of the Immunogenicity, Safety, Reactogenicity, Efficacy, Effectiveness and Lot Consistency of FluBlok® Trivalent Recombinant Baculovirus-Expressed Hemagglutinin Influenza Vaccine in Healthy Adults Aged 18 to 49 Years Completed NCT00539981 Phase 3
43 A 24-week, Randomized, Double-blind, Multi-center, Parallel LCZ696 on NT-proBNP, Exercise Capacity, Symptoms and Safety Compared to Individualized Medical Management of Comorbidities in Patients With Heart Failure and Preserved Ejection Fraction Completed NCT03066804 Phase 3 sacubitril/valsartan;Enalapril;Valsartan;Placebo to match sacubitril/valsartan;Placebo to match enalapril;Placebo to match valsartan
44 An Open-label, International, Multicenter, Interventional Study Exploring the Efficacy of Once-daily Oral Rivaroxaban (BAY 59-7939) for the Treatment of Left Atrial/Left Atrial Appendage Thrombus in Subjects With Nonvalvular Atrial Fibrillation or Atrial Flutter Completed NCT01839357 Phase 3 Rivaroxaban (Xarelto, BAY59-7939)
45 Comparison of the Safety of Flublok® Versus Licensed Inactivated Influenza Vaccine in Healthy, Medically Stable Adults ≥ 50 Years of Age Completed NCT01825200 Phase 3
46 Evaluation of the Efficacy and Safety of Rivaroxaban (BAY59-7939) for the Prevention of Stroke and Non-central Nervous System Systemic Embolism in Subjects With Non-valvular Atrial Fibrillation Completed NCT00494871 Phase 3 Rivaroxaban (Xarelto, BAY59-7939);Warfarin;Rivaroxaban placebo;Warfarin placebo
47 A Multicenter, Randomized, Controlled Study Comparing the Efficacy and Safety of 48 Weeks of 40kD Branched Pegylated Interferon Alfa-2a (PEG-IFN, RO 25-8310) Versus 96 Weeks of PEG-IFN, Alone or in Combination With 100 mg Lamivudine for 48 Weeks in Patients With HBeAg-Negative Chronic Hepatitis B Completed NCT01095835 Phase 3 Pegylated interferon (PEG-IFN) alfa-2a, 180 mcg;Pegylated interferon (PEG-IFN) alfa-2a, 135 mcg;Lamivudine (LAM)
48 Phase III Trial Comparing Conventional Adjuvant Temozolomide With Dose-Intensive Temozolomide in Patients With Newly Diagnosed Glioblastoma Completed NCT00304031 Phase 3 Concurrent temozolomide;100mg/m2 adjuvant temozolomide days 1 to 5 of 28 day cycle;75mg/m2 adjuvant temozolomide days 1-21 of 28 day cycle
49 HDR Brachytherapy Combined With Interstitial Hyperthermia 500 kHz in Locally Advanced Cervical Cancer Patients. A Prospective Clinical Trial Completed NCT01474356 Phase 3
50 Rivaroxaban Versus Acenocumarol for Secondary Thromboprophylaxis in Patients With Antiphospholipid Syndrome: a Randomized, Prospective, Phase III Study. Analysis of Stratification Prognostic Factors Completed NCT02926170 Phase 3 Rivaroxaban;acenocumarol

Search NIH Clinical Center for 49, Xxxxy Syndrome

Genetic Tests for 49, Xxxxy Syndrome

Anatomical Context for 49, Xxxxy Syndrome

MalaCards organs/tissues related to 49, Xxxxy Syndrome:

40
Testes, Prostate, Bone, Spinal Cord, Heart, Colon, Liver

Publications for 49, Xxxxy Syndrome

Articles related to 49, Xxxxy Syndrome:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Sexual and developmental aspects of 49, XXXXY Syndrome: A case report. 61
32725928 2020
2
Speech and language development in children with 49,XXXXY syndrome. 61
32725750 2020
3
49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder. 61
32656941 2020
4
Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome. 61
32618131 2020
5
Neurocognitive development and capabilities in boys with 49,XXXXY syndrome. 61
32662248 2020
6
Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness. 61
32083381 2020
7
Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. 61
31574874 2019
8
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum. 61
30031153 2019
9
Severe myelinopathy in 49,XXXXY syndrome. 61
28627968 2018
10
False Low-Risk Single Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY. 61
29362687 2018
11
MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME. 61
27617393 2018
12
Prenatal presentation of 49,XXXXY syndrome. 61
28940214 2017
13
Frontal Aslant Tract Abnormality on Diffusion Tensor Imaging in an Aphasic Patient With 49, XXXXY Syndrome. 61
26706051 2016
14
Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects. 61
26767114 2016
15
Neonatal diagnosis of 49, XXXXY syndrome. 61
26000009 2015
16
[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. 61
24876149 2014
17
Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. 61
23667827 2013
18
An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. 61
23032147 2012
19
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome. 61
22980072 2012
20
Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. 61
22156792 2012
21
49, XXXXY syndrome: an Italian child. 61
22570969 2012
22
Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. 61
21362043 2011
23
Leg ulcer in a patient with 49, XXXXY syndrome. 61
21352338 2011
24
A Sri Lankan child with 49,XXXXY syndrome. 61
21206706 2010
25
Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. 61
20503329 2010
26
Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report. 61
19772821 2009
27
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations. 61
19797926 2009
28
Proximal tibiofibular synostosis with 49,XXXXY syndrome, a rare congenital bone anomaly. 61
18696202 2008
29
Brain magnetic resonance imaging findings in 49,XXXXY syndrome. 61
18486832 2008
30
A rare case of ambiguous genitalia. 61
17728969 2007
31
Case report: 49, XXXXY syndrome and high myopia. 61
17718889 2007
32
Oral aspects of 49, XXXXY syndrome: a case report. 61
18477435 2007
33
Patent ductus arteriosus, ventricular septal defect and pulmonary hypertension in a child with 49, XXXXY syndrome. 61
17100209 2006
34
49,XXXXY syndrome with diabetes mellitus. 61
16357485 2006
35
49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. 61
16302576 2005
36
49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. 61
15645656 2004
37
49, XXXXY syndrome. 61
15508879 2004
38
Neurologic aspects of 49,XXXXY syndrome. 61
12940658 2003
39
Prenatal sonographic diagnosis of the 49,XXXXY syndrome. 61
12478628 2002
40
Case of XXXXY syndrome. Development throughout adolescence and endocrine aspects. 61
11044797 2000
41
[A case of neonatal 49,XXXXY syndrome]. 61
10489762 1999
42
49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele. 61
10799004 1999
43
49,XXXXY: a distinct phenotype. Three new cases and review. 61
9610808 1998
44
Bilateral Peter's anomaly in an infant with 49,XXXXY syndrome. 61
9559511 1998
45
Evolution of bone anomalies in 49,XXXXY syndrome. 61
7681724 1993
46
49,XXXXY syndrome: behavioural and developmental profiles. 61
1583668 1992
47
49,XXXXY syndrome: behavioural and developmental profiles. 61
1956059 1991
48
[49,XXXXY syndrome and congenital cardiopathy]. 61
1859248 1991
49
The 49,XXXXY syndrome: clinical and psychological findings in five patients. 61
2380984 1990
50
Origin of the X chromosomes in a patient with the 49,XXXXY syndrome. 61
1969965 1990

Variations for 49, Xxxxy Syndrome

Expression for 49, Xxxxy Syndrome

Search GEO for disease gene expression data for 49, Xxxxy Syndrome.

Pathways for 49, Xxxxy Syndrome

GO Terms for 49, Xxxxy Syndrome

Sources for 49, Xxxxy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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