MCID: 49X006
MIFTS: 41

49, Xxxxy Syndrome

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

Aliases & Classifications for 49, Xxxxy Syndrome

MalaCards integrated aliases for 49, Xxxxy Syndrome:

Name: 49, Xxxxy Syndrome 52
49,xxxxy Syndrome 25 58
Xxxxy Syndrome 52 25
49,xxxxy Chromosomal Anomaly 25
Chromosome Xxxxy Syndrome 25
Xxxxy Aneuploidy 25
49,xxxxy 52

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

Genetics Home Reference : 25 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 hypogonadism and hypertelorism. The drugs Lactitol and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and heart, and related phenotypes are intellectual disability and global developmental delay

NIH Rare Diseases : 52 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 : 74 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 81)
# Related Disease Score Top Affiliating Genes
1 hypogonadism 10.4
2 hypertelorism 10.4
3 patent ductus arteriosus 1 10.4
4 48,xyyy 10.4
5 hypogonadotropic hypogonadism 10.3
6 synostosis 10.3
7 heart septal defect 10.3
8 radioulnar synostosis 10.3
9 47,xyy 10.3
10 cystic lymphangioma 10.2
11 48, xxxx 10.2
12 49, xxxxx 10.2
13 sex-chromosome anomaly 10.2
14 cleft palate, isolated 10.1
15 epicanthus 10.1
16 nondisjunction 10.1
17 down syndrome 10.1
18 hydrocephalus, congenital, 1 10.1
19 taurodontism 10.1
20 yemenite deaf-blind hypopigmentation syndrome 10.1
21 branchiootic syndrome 1 10.1
22 dermatitis, atopic 10.1
23 cyanosis, transient neonatal 10.1
24 joint laxity, short stature, and myopia 10.1
25 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
26 pulmonary hypertension 10.1
27 aphasia 10.1
28 apraxia 10.1
29 umbilical hernia 10.1
30 microcephaly 10.1
31 hydronephrosis 10.1
32 heart disease 10.1
33 myopia 10.1
34 acute cystitis 10.1
35 ventricular septal defect 10.1
36 atrial heart septal defect 10.1
37 pulmonary embolism 10.1
38 developmental dyspraxia 10.1
39 hypotonia 10.1
40 peripheral pulmonary stenosis 10.1
41 cryptorchidism, unilateral or bilateral 10.1
42 scoliosis 10.1
43 hypothyroidism 10.1
44 cataract 10.1
45 polyhydramnios 10.1
46 growth hormone deficiency 10.1
47 ige responsiveness, atopic 10.0
48 otitis media 10.0
49 strabismus 10.0
50 torticollis 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 66)
# 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 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
5 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
6 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
7 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
8 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
9 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
10 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
11 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
12 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
14 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
15 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
16 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
17 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
18 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
19 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
20 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
21 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
22 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
23 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
24 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
25 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
26 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
27 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
28 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
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 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
43 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
44 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
45 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
46 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
47 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
48 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
49 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
50 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337

Drugs & Therapeutics for 49, Xxxxy Syndrome

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

(show top 50) (show all 887)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Cycloserine Approved Phase 4 68-41-7 401 6234
9
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
10
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
11
Oxcarbazepine Approved Phase 4 28721-07-5 34312
12
Ziprasidone Approved Phase 4 146939-27-7 60854
13
Amiloride Approved Phase 4 2016-88-8, 2609-46-3 16231
14
Telithromycin Approved Phase 4 191114-48-4 70789201 5462516
15
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
16
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
17
Donepezil Approved Phase 4 120014-06-4 3152
18
Clarithromycin Approved Phase 4 81103-11-9 84029
19
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
20
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
21
Cevimeline Approved Phase 4 107233-08-9 83898 25137844
22
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
23
Acyclovir Approved Phase 4 59277-89-3 2022
24
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
25
Nicotine Approved Phase 4 54-11-5 942 89594
26
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
27
Rasagiline Approved Phase 4 136236-51-6 3052776
28
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
29
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
30
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
31
Didanosine Approved Phase 4 69655-05-6 50599
32
Indinavir Approved Phase 4 150378-17-9 5362440
33
Zidovudine Approved Phase 4 30516-87-1 35370
34
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
35
Liraglutide Approved Phase 4 204656-20-2 44147092
36
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
37
Morphine Approved, Investigational Phase 4 57-27-2 5288826
38
Lithium carbonate Approved Phase 4 554-13-2
39
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
40
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
41
Travoprost Approved Phase 4 157283-68-6 5282226
42
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
43
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
44
Brinzolamide Approved Phase 4 138890-62-7 68844
45
Timolol Approved Phase 4 26839-75-8 5478 33624
46
Teniposide Approved Phase 4 29767-20-2 34698
47
Remifentanil Approved Phase 4 132875-61-7 60815
48
Insulin detemir Approved Phase 4 169148-63-4 5311023
49
Amlodipine Approved Phase 4 88150-42-9 2162
50
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639

Interventional clinical trials:

(show top 50) (show all 1563)
# Name Status NCT ID Phase Drugs
1 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
2 A Randomized, Open-label, Multi-center Clinical Trial to Evaluate Addition of Peginterferon Alfa-2a to CHB Patients Treated With NAs and Achieved HBV DNA<15 IU/ml、HBeAg<100 PEIU/ml、HBsAg Positive and HBsAg<1500 IU/ml. Unknown status NCT02894918 Phase 4 Peginterferon alfa-2a
3 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
4 D-cycloserine for Relapse Prevention Following Intravenous Ketamine in Treatment-resistant Depression Unknown status NCT02772211 Phase 4 Ketamine;D-cycloserine;Placebo
5 A Double Blind Randomised Placebo Controlled Trial of Montelukast in the Treatment of Acute Persistent Cough in Young People and Adults in Primary Care Unknown status NCT01279668 Phase 4 Montelukast;Placebo
6 Comparison of Efficacy and Safety Among DAbigatran, RIvaroxaban, and ApixabaN in Patients HavinG Non-Valvular Atrial Fibrillation in Taiwan (DARING-AF Study) Unknown status NCT02666157 Phase 4 Dabigatran etexilate;Rivaroxaban;Apixaban
7 Primary and Secondary Prevention of Human Papillomavirus (HPV) Disease in China Unknown status NCT01021904 Phase 4
8 Clinical Effectiveness of Serum Chromogranin A (CgA) Levels on Diagnostic Relevance, Response After Surgical Resection and Recurrence of Pancreatic Endocrine Tumors (PET) Unknown status NCT02759718 Phase 4
9 The Effects of Cortisol Blockade on Nutritional Sympathetic Nervous System Responsiveness in Overweight and Obese Subjects With Metabolic Syndrome Unknown status NCT01620684 Phase 4 metyrapone;placebo
10 Randomized, Multicenter, Open -Label Clinical Trial to Study the Effect of Adding on Pegylated Interferon Therapy for Patients Diagnosed With Chronic Hepatitis B Showing Maintained Response While Receiving Ongoing Nucleotide Analogues Unknown status NCT02982837 Phase 4 PEG-IFN & Nucleos(t)tide analogues;Nucleos(t)tide analogues
11 Comparative Efficacy and Acceptability of Lithium, Valproate, Oxcarbazepine, Quetiapine, Olanzapine, and Ziprasidone in Bipolar I Disorder, Manic or Mixed Phase Unknown status NCT01893229 Phase 4 Lithium;Valproate;Oxcarbazepine;Quetiapine;Olanzapine;Ziprasidone
12 Comparison of Single and Combination Diuretics in Low-Renin Hypertension Unknown status NCT02351973 Phase 4 Hydrochlorthiazide;Amiloride;Hydrochlorthiazide and Amiloride
13 Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
14 Prediction of Individual Treatment Response Based on Brain Changes at the Early Phase of Antidepressant Treatment in Major Depressive Disorder Using Machine Learning Classification Analysis Unknown status NCT02330679 Phase 4 Desvenlafaxine;Placebo
15 Efficacy of Systemic Glucocorticoid in the Treatment of Wheezing in Children Unknown status NCT00494624 Phase 4 prednisolone
16 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
17 A Prospective, Randomized, Open-label, Active-controlled Study in Adult Subjects With Acute Bacterial Sinusitis Comparing the Clinical Efficacy of Telithromycin (KETEK®) 800 mg Once a Day for 5 Days Versus Amoxicillin-clavulanic Acid (AUGMENTIN®) 875/125 mg Twice a Day for 10 Days Completed NCT00174694 Phase 4 Telithromycin
18 A Randomised, Multicentre, Single-Blind, Phase IV Study, of the Efficacy, Safety, and Acceptability of Moviprep® Versus Colopeg® in Colonoscopy Preparation. Completed NCT00605228 Phase 4 MOVIPREP;COLOPEG
19 Change in SCIO (Scoring Clinical Index For Onychomycosis) in Toenail Onychomycosis Treating With Itraconazole Capsules Completed NCT00871728 Phase 4 Itraconazole
20 Influenza Immunity: Protective Mechanisms Against a Pandemic Respiratory Virus Completed NCT00138281 Phase 4
21 Prevention of Postoperative Delirium With Donepezil Completed NCT00220896 Phase 4 Donepezil
22 A Three Year Follow-up Prospective Open Randomized Trial of Tension-Free Vaginal Tape and Colposuspension for Primary Urodynamic Stress Incontinence Completed NCT00782990 Phase 4
23 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
24 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)
25 Efficacy and Safety of 1-week Triple Therapy With Ilaprazole for the Eradication of Helicobacter Pylori Completed NCT02873065 Phase 4 Ilaprazole;Esoprazole
26 Efficacy and Safety of Ilaprazole Based Bismuth-containing Quadruple Regimen for the First-line Treatment of Helicobacter Pylori Infection Completed NCT02835560 Phase 4 Ilaprazole antisecretory drug of each quadruple therapy the Ilaprazole -based quadruple therapy;Esoprazole antisecretory drug of each quadruple therapy Esoprazole-based quadruple therapy
27 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
28 An Investigator-Initiated,Multicenter,Randomized,Double-Blind Placebo-Controlled Design Study to Assess the Effectiveness of CeviMeline to Improve OraL Health in Patients With XErostomia Secondary to Radiation Therapy for Treatment of Head and Neck Squamous Cell Carcinoma Completed NCT00466388 Phase 4 Cevimeline
29 A Phase 4 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety of 1 New 6:2 Influenza Virus Reassortant in Adults Completed NCT03158038 Phase 4
30 A Phase 4 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety of 3 New 6:2 Influenza Virus Reassortants in Adults Completed NCT02473510 Phase 4
31 Dual Therapy With High Doses of Ilaprazole and Amoxicillin for Helicobacter Pylori Infection; Studies From Korea Completed NCT02401477 Phase 4 Ilaprazole + Amoxicillin
32 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety of 3 New 6:2 Influenza Virus Reassortants in Adults Completed NCT01859143 Phase 4
33 Defining an Endopheneotype for Alcohol Treatment With Naltrexone Completed NCT00817089 Phase 4 Placebo Oral Tablet;Naltrexone
34 A Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety of a New 6:2 Influenza Virus Reassortant in Healthy Adults Completed NCT00873912 Phase 4
35 A Randomized Controlled Crossover Trial of Acylcovir Among HIV and HSV-2 Co-Infected Women, Chiang Rai, Thailand Completed NCT00362596 Phase 4 acyclovir
36 A Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety of a New 6:2 Influenza Virus Reassortant Completed NCT01104493 Phase 4
37 A Phase 4 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety of 1 New 6:2 Influenza Virus Reassortant in Adults Completed NCT02743117 Phase 4
38 A Phase 4, Randomized, Double-blind, Placebo Controlled Study to Evaluate the Safety of 2 New of 6:2 Influenza Virus Reassortants in Adults Completed NCT03564444 Phase 4
39 ONCOXIN® and Quality of Life in Cancer Patients in a Real World Setting Study Completed NCT03550482 Phase 4
40 24-hour IOP-lowering Effect of 0.01% Bimatoprost Completed NCT01271686 Phase 4 0.01% bimatoprost
41 The Effect of Sitagliptin Treatment on Glucose Metabolism and Endothelial Function in Renal Transplant Recipients - JANUVIA-08 Completed NCT00740363 Phase 4 sitagliptin;placebo
42 A Study of Avelox for Treatment of Elderly Patients With Community Acquired Pneumonia Completed NCT00665327 Phase 4 Avelox (Moxifloxacin, BAY12-8039);Levofloxacin
43 Reversibility of Olfactory Loss in Patients With Idiopathic Parkinson's Disease Following Treatment With Rasagiline Completed NCT00902941 Phase 4 Azilect 1mg;Placebo
44 LAL-BR/2001: Study Treatment to Low Risk ALL Completed NCT00526175 Phase 4 Prednisone;Vincristine;Daunorubicin;L-Asparaginase;Cyclophosphamide;Methotrexate;Cytosine Arabinoside;Mercaptopurine;VP-16
45 Comparative Study of Influenza Vaccines in Adults - FLU-VACS Completed NCT00133523 Phase 4
46 A Randomized Controlled Clinical Study to Determine If the Addition of HIV RNA Viral Load Is an Effective Tool in Determining Treatment Regimens for HIV-Infected Patients Completed NCT00002376 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Didanosine
47 Adaptive and Innate Immunity, Memory and Repertoire in Vaccination and Infection Completed NCT03028974 Phase 4
48 A Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Safety of 3 New 6:2 Influenza Virus Reassortants in Adults Completed NCT01579916 Phase 4
49 Time Course of the Blood Pressure Lowering Effect of Liraglutide Therapy in Type 2 Diabetes Completed NCT01499108 Phase 4 liraglutide
50 A Protocol to Collect Human Serum Samples From Healthy Adults Completed NCT02072525 Phase 4

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
Breast, Testes, Heart, Brain, Lung, Bone, Prostate

Publications for 49, Xxxxy Syndrome

Articles related to 49, Xxxxy Syndrome:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness. 61
32083381 2020
2
Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. 61
31574874 2019
3
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum. 61
30031153 2019
4
Severe myelinopathy in 49,XXXXY syndrome. 61
28627968 2018
5
MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME. 61
27617393 2018
6
False Low-Risk Single Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY. 61
29362687 2018
7
Prenatal presentation of 49,XXXXY syndrome. 61
28940214 2017
8
Frontal Aslant Tract Abnormality on Diffusion Tensor Imaging in an Aphasic Patient With 49, XXXXY Syndrome. 61
26706051 2016
9
Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects. 61
26767114 2016
10
Neonatal diagnosis of 49, XXXXY syndrome. 61
26000009 2015
11
[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. 61
24876149 2014
12
The XXXXY syndrome: a new case with talamic lesion. 61
25365858 2014
13
50 years ago in The Journal of Pediatrics: the XXXXY syndrome: a report of a case and review of the literature. 61
24274199 2013
14
Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. 61
23667827 2013
15
An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. 61
23032147 2012
16
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome. 61
22980072 2012
17
Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. 61
22156792 2012
18
49, XXXXY syndrome: an Italian child. 61
22570969 2012
19
Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. 61
21362043 2011
20
Leg ulcer in a patient with 49, XXXXY syndrome. 61
21352338 2011
21
A Sri Lankan child with 49,XXXXY syndrome. 61
21206706 2010
22
Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. 61
20503329 2010
23
Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report. 61
19772821 2009
24
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations. 61
19797926 2009
25
Proximal tibiofibular synostosis with 49,XXXXY syndrome, a rare congenital bone anomaly. 61
18696202 2008
26
Brain magnetic resonance imaging findings in 49,XXXXY syndrome. 61
18486832 2008
27
A rare case of ambiguous genitalia. 61
17728969 2007
28
Case report: 49, XXXXY syndrome and high myopia. 61
17718889 2007
29
Oral aspects of 49, XXXXY syndrome: a case report. 61
18477435 2007
30
Patent ductus arteriosus, ventricular septal defect and pulmonary hypertension in a child with 49, XXXXY syndrome. 61
17100209 2006
31
49,XXXXY syndrome with diabetes mellitus. 61
16357485 2006
32
A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome. 61
16152650 2005
33
49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. 61
16302576 2005
34
49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. 61
15645656 2004
35
49, XXXXY syndrome. 61
15508879 2004
36
Neurologic aspects of 49,XXXXY syndrome. 61
12940658 2003
37
Prenatal sonographic diagnosis of the 49,XXXXY syndrome. 61
12478628 2002
38
The dentofacial manifestations of XXXXY syndrome: a case report. 61
11310138 2001
39
Case of XXXXY syndrome. Development throughout adolescence and endocrine aspects. 61
11044797 2000
40
[A case of neonatal 49,XXXXY syndrome]. 61
10489762 1999
41
49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele. 61
10799004 1999
42
49,XXXXY: a distinct phenotype. Three new cases and review. 61
9610808 1998
43
Bilateral Peter's anomaly in an infant with 49,XXXXY syndrome. 61
9559511 1998
44
XXXXY syndrome: report of case. 61
7577735 1995
45
Evolution of bone anomalies in 49,XXXXY syndrome. 61
7681724 1993
46
[XXXXY syndrome]. 61
7757754 1993
47
Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome. 61
1456296 1992
48
49,XXXXY syndrome: behavioural and developmental profiles. 61
1583668 1992
49
49,XXXXY syndrome: behavioural and developmental profiles. 61
1956059 1991
50
Hypoplasia of the corpus callosum and growth hormone deficiency in a boy with the XXXXY syndrome. 61
1773542 1991

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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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