MCID: 49X002
MIFTS: 39

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 53 25 59 72
Xxxxy Syndrome 53 25
49,xxxxy Chromosomal Anomaly 25
Chromosome Xxxxy Syndrome 25
Xxxxy Aneuploidy 25
49,xxxxy 53

Characteristics:

Orphanet epidemiological data:

59
49,xxxxy syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: any age;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q98.1
UMLS via Orphanet 73 C0265499
Orphanet 59 ORPHA96264
UMLS 72 C0265499

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 xxxxy syndrome, is related to 47, xxy and hypogonadotropic hypogonadism. The drugs Prednisolone phosphate 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 muscular hypotonia

NIH Rare Diseases : 53 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 : 75 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 79)
# Related Disease Score Top Affiliating Genes
1 47, xxy 11.6
2 hypogonadotropic hypogonadism 11.3
3 hypogonadism 10.3
4 hypogonadotropism 10.3
5 48, xxxx 10.2
6 49, xxxxx 10.2
7 synostosis 10.2
8 hypertelorism 10.2
9 radioulnar synostosis 10.1
10 hydronephrosis 10.1
11 congenital radioulnar synostosis 10.1
12 hypotonia 10.1
13 sex-chromosome anomaly 10.1
14 taurodontism 10.1
15 heart septal defect 10.1
16 growth hormone deficiency 10.1
17 cleft palate, isolated 10.0
18 ige responsiveness, atopic 10.0
19 otitis media 10.0
20 gastroschisis 10.0
21 immune deficiency disease 10.0
22 scoliosis 10.0
23 hypoplastic right heart syndrome 10.0
24 hypothyroidism 10.0
25 leydig cell tumor 10.0
26 teratoma 10.0
27 hard palate cancer 10.0
28 chromosomal triplication 10.0
29 fetal edema 10.0
30 hydrops fetalis 10.0
31 specific antibody deficiency 10.0
32 abdominal wall defect 10.0
33 epignathus 10.0
34 congenital knee dislocation 10.0
35 nondisjunction 10.0
36 down syndrome 10.0
37 ureterocele 10.0
38 renal hypodysplasia/aplasia 1 10.0
39 cryptorchidism, unilateral or bilateral 10.0
40 pseudovaginal perineoscrotal hypospadias 10.0
41 patent ductus arteriosus 1 10.0
42 apraxia 10.0
43 heart disease 10.0
44 gestational diabetes 10.0
45 clubfoot 10.0
46 gonadal dysgenesis 10.0
47 cystic lymphangioma 10.0
48 turner syndrome 10.0
49 cataract 10.0
50 polyhydramnios 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:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 open bite 59 32 hallmark (90%) Very frequent (99-80%) HP:0010807
5 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
6 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
7 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
8 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
9 azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000027
10 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
11 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
12 language impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002463
13 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
14 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
15 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
16 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
17 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
18 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
19 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
20 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
21 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
22 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
23 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
24 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
25 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
26 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
27 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
28 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
29 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
30 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
31 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
32 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
33 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
34 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
35 taurodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000679
36 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
37 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
38 down-sloping shoulders 59 32 frequent (33%) Frequent (79-30%) HP:0200021
39 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
40 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
41 renal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000110
42 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
43 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
44 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
45 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
46 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
47 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
48 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
49 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
50 cleft palate 59 32 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 918)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
6
Norepinephrine Approved Phase 4 51-41-2 439260
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8
Cycloserine Approved Phase 4 68-41-7 6234 401
9
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
10
Apixaban Approved Phase 4 503612-47-3 10182969
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
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
15
Telithromycin Approved Phase 4 191114-48-4 5462516 70789201
16
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
17
Rivaroxaban Approved Phase 4 366789-02-8
18
Donepezil Approved Phase 4 120014-06-4 3152
19
Insulin glargine Approved Phase 4 160337-95-1
20
Insulin Lispro Approved Phase 4 133107-64-9
21
Zinc Approved, Investigational Phase 4 7440-66-6 32051
22
Clarithromycin Approved Phase 4 81103-11-9 84029
23
Norethindrone Approved Phase 4 68-22-4 6230
24
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
25
Cevimeline Approved Phase 4 107233-08-9 25137844 83898
26
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
27
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
28
Misoprostol Approved Phase 4 59122-46-2 5282381
29
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
30
Acyclovir Approved Phase 4 59277-89-3 2022
31
Rasagiline Approved Phase 4 136236-51-6 3052776
32
Didanosine Approved Phase 4 69655-05-6 50599
33
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
34
Zidovudine Approved Phase 4 30516-87-1 35370
35
Indinavir Approved Phase 4 150378-17-9 5362440
36
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
37
Liraglutide Approved Phase 4 204656-20-2 44147092
38
Esomeprazole Approved, Investigational Phase 4 119141-88-7, 161796-78-7, 161973-10-0 9568614 4594
39
Morphine Approved, Investigational Phase 4 57-27-2 5288826
40
Primaquine Approved Phase 4 90-34-6 4908
41
Lithium carbonate Approved Phase 4 554-13-2
42
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
43
Remifentanil Approved Phase 4 132875-61-7 60815
44
Timolol Approved Phase 4 26839-75-8 33624 5478
45
Travoprost Approved Phase 4 157283-68-6 5282226
46
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
47
Brinzolamide Approved Phase 4 138890-62-7 68844
48
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
49
Insulin Detemir Approved Phase 4 169148-63-4 5311023
50
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585

Interventional clinical trials:

(show top 50) (show all 1412)
# 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 Primary and Secondary Prevention of Human Papillomavirus (HPV) Disease in China Unknown status NCT01021904 Phase 4
7 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
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 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
10 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
11 Comparison of Single and Combination Diuretics in Low-Renin Hypertension Unknown status NCT02351973 Phase 4 Hydrochlorthiazide;Amiloride;Hydrochlorthiazide and Amiloride
12 Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
13 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
14 Efficacy of Systemic Glucocorticoid in the Treatment of Wheezing in Children Unknown status NCT00494624 Phase 4 prednisolone
15 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
16 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
17 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
18 Change in SCIO (Scoring Clinical Index For Onychomycosis) in Toenail Onychomycosis Treating With Itraconazole Capsules Completed NCT00871728 Phase 4 Itraconazole
19 Prevention of Postoperative Delirium With Donepezil Completed NCT00220896 Phase 4 Donepezil
20 Influenza Immunity: Protective Mechanisms Against a Pandemic Respiratory Virus Completed NCT00138281 Phase 4
21 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
22 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
23 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)
24 Genetic and Environmental Factors in the Response to Influenza Vaccination Completed NCT03088904 Phase 4
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 The Effect of Sitagliptin Treatment on Glucose Metabolism and Endothelial Function in Renal Transplant Recipients - JANUVIA-08 Completed NCT00740363 Phase 4 sitagliptin;placebo
30 ONCOXIN® and Quality of Life in Cancer Patients in a Real World Setting Study Completed NCT03550482 Phase 4
31 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
32 Dual Therapy With High Doses of Ilaprazole and Amoxicillin for Helicobacter Pylori Infection; Studies From Korea Completed NCT02401477 Phase 4 Ilaprazole + Amoxicillin
33 A Study of Avelox for Treatment of Elderly Patients With Community Acquired Pneumonia Completed NCT00665327 Phase 4 Avelox (Moxifloxacin, BAY12-8039);Levofloxacin
34 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
35 24-hour IOP-lowering Effect of 0.01% Bimatoprost Completed NCT01271686 Phase 4 0.01% bimatoprost
36 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
37 A Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety of a New 6:2 Influenza Virus Reassortant Completed NCT01104493 Phase 4
38 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
39 A Randomized Controlled Crossover Trial of Acylcovir Among HIV and HSV-2 Co-Infected Women, Chiang Rai, Thailand Completed NCT00362596 Phase 4 acyclovir
40 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
41 Study of the Effect of Calcifediol Supplementation on Left Ventricular Function Parameters in Cardiopathic Subjects Undergoing Major Orthopedic Surgery. Completed NCT03403933 Phase 4 Didrogyl
42 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
43 Reversibility of Olfactory Loss in Patients With Idiopathic Parkinson's Disease Following Treatment With Rasagiline Completed NCT00902941 Phase 4 Azilect 1mg;Placebo
44 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
45 Comparative Study of Influenza Vaccines in Adults - FLU-VACS Completed NCT00133523 Phase 4
46 Adaptive and Innate Immunity, Memory and Repertoire in Vaccination and Infection Completed NCT03028974 Phase 4
47 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
48 Time Course of the Blood Pressure Lowering Effect of Liraglutide Therapy in Type 2 Diabetes Completed NCT01499108 Phase 4 liraglutide
49 Defining an Endopheneotype for Alcohol Treatment With Naltrexone Completed NCT00817089 Phase 4 naltrexone;placebo
50 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib in Patients With Metastatic Colorectal Cancer (mCRC) or Gastrointestinal Stromal Tumour (GIST) Completed NCT02800330 Phase 4 Esomeprazole 40mg concomitantly;Esomeprazole 40mg before;Regorafenib 160mg or 120mg

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:

41
Breast, Testes, Heart, Bone, Lung, Brain, Eye

Publications for 49,xxxxy Syndrome

Articles related to 49,xxxxy Syndrome:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum. 38
30031153 2019
2
Severe myelinopathy in 49,XXXXY syndrome. 38
28627968 2018
3
MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME. 38
27617393 2018
4
False Low-Risk Single Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY. 38
29362687 2018
5
Prenatal presentation of 49,XXXXY syndrome. 38
28940214 2017
6
Frontal Aslant Tract Abnormality on Diffusion Tensor Imaging in an Aphasic Patient With 49, XXXXY Syndrome. 38
26706051 2016
7
Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects. 38
26767114 2016
8
Neonatal diagnosis of 49, XXXXY syndrome. 38
26000009 2015
9
[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. 38
24876149 2014
10
The XXXXY syndrome: a new case with talamic lesion. 38
25365858 2014
11
50 years ago in The Journal of Pediatrics: the XXXXY syndrome: a report of a case and review of the literature. 38
24274199 2013
12
Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. 38
23667827 2013
13
An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. 38
23032147 2012
14
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome. 38
22980072 2012
15
Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. 38
22156792 2012
16
49, XXXXY syndrome: an Italian child. 38
22570969 2012
17
Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. 38
21362043 2011
18
Leg ulcer in a patient with 49, XXXXY syndrome. 38
21352338 2011
19
A Sri Lankan child with 49,XXXXY syndrome. 38
21206706 2010
20
Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. 38
20503329 2010
21
Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report. 38
19772821 2009
22
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations. 38
19797926 2009
23
Proximal tibiofibular synostosis with 49,XXXXY syndrome, a rare congenital bone anomaly. 38
18696202 2008
24
Brain magnetic resonance imaging findings in 49,XXXXY syndrome. 38
18486832 2008
25
Case report: 49, XXXXY syndrome and high myopia. 38
17718889 2007
26
A rare case of ambiguous genitalia. 38
17728969 2007
27
Oral aspects of 49, XXXXY syndrome: a case report. 38
18477435 2007
28
Patent ductus arteriosus, ventricular septal defect and pulmonary hypertension in a child with 49, XXXXY syndrome. 38
17100209 2006
29
49,XXXXY syndrome with diabetes mellitus. 38
16357485 2006
30
A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome. 38
16152650 2005
31
49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. 38
16302576 2005
32
49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. 38
15645656 2004
33
49, XXXXY syndrome. 38
15508879 2004
34
Neurologic aspects of 49,XXXXY syndrome. 38
12940658 2003
35
Prenatal sonographic diagnosis of the 49,XXXXY syndrome. 38
12478628 2002
36
The dentofacial manifestations of XXXXY syndrome: a case report. 38
11310138 2001
37
Case of XXXXY syndrome. Development throughout adolescence and endocrine aspects. 38
11044797 2000
38
[A case of neonatal 49,XXXXY syndrome]. 38
10489762 1999
39
49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele. 38
10799004 1999
40
49,XXXXY: a distinct phenotype. Three new cases and review. 38
9610808 1998
41
Bilateral Peter's anomaly in an infant with 49,XXXXY syndrome. 38
9559511 1998
42
XXXXY syndrome: report of case. 38
7577735 1995
43
Evolution of bone anomalies in 49,XXXXY syndrome. 38
7681724 1993
44
[XXXXY syndrome]. 38
7757754 1993
45
Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome. 38
1456296 1992
46
49,XXXXY syndrome: behavioural and developmental profiles. 38
1583668 1992
47
49,XXXXY syndrome: behavioural and developmental profiles. 38
1956059 1991
48
Hypoplasia of the corpus callosum and growth hormone deficiency in a boy with the XXXXY syndrome. 38
1773542 1991
49
[49,XXXXY syndrome and congenital cardiopathy]. 38
1859248 1991
50
The 49,XXXXY syndrome: clinical and psychological findings in five patients. 38
2380984 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
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9 Cosmic
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17 EFO
18 ExPASy
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33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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