MCID: 48X002
MIFTS: 35

48,xxxy Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for 48,xxxy Syndrome

MalaCards integrated aliases for 48,xxxy Syndrome:

Name: 48,xxxy Syndrome 19 42 58
Xxxy Syndrome 19 42 75 71
Xxxy Males 42
48,xxxy 75

Characteristics:


Prevelance:

1-9/100000 (Europe, Europe) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

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


Summaries for 48,xxxy Syndrome

MedlinePlus Genetics: 42 48,XXXY 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.Most boys and men with 48,XXXY syndrome have mild 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. The problems with speech and communication can contribute to behavioral issues, including irritability and outbursts or temper tantrums. Boys and men with 48,XXXY syndrome tend to have anxiety, a short attention span, and impaired social skills.48,XXXY 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 boys and men tend to be taller than their peers, with an average adult height of over 6 feet.Other physical differences associated with 48,XXXY 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 may have distinctive facial features, including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds). However, some boys and men with 48,XXXY syndrome do not have these differences in their facial features.48,XXXY syndrome disrupts male sexual development. The penis is shorter than usual, 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 typically do not produce sperm, so most men with this condition are infertile.

MalaCards based summary: 48,xxxy Syndrome, also known as xxxy syndrome, is related to 48,xyyy and hypogonadotropic hypogonadism. The drugs Chlorhexidine and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include testes, breast and skin, and related phenotypes are global developmental delay and intellectual disability, mild

GARD: 19 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 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 usually more severe. Signs and symptoms of 48,XXXY syndrome can vary but may include learning difficulties; intellectual disability; low muscle tone (hypotonia); hypogonadism; delayed growth; distinctive facial features; and a variety of birth defects that may affect the genital and musculoskeletal systems. Many also have poorly developed social skills and delayed language development. This condition is not inherited and likely results from a random error in cell division.

Orphanet: 58 The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.

Wikipedia: 75 XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals... more...

Related Diseases for 48,xxxy Syndrome

Diseases related to 48,xxxy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 48,xyyy 10.8
2 hypogonadotropic hypogonadism 10.7
3 down syndrome 10.6
4 47 xxx syndrome 10.6
5 49, xxxxy syndrome 10.5
6 hypogonadism 10.3
7 pseudovaginal perineoscrotal hypospadias 10.2
8 gynecomastia 10.2
9 turner syndrome 10.2
10 penis agenesis 10.2
11 aniridia 1 10.0
12 cleft palate, isolated 10.0
13 hypertelorism 10.0
14 nail-patella syndrome 10.0
15 capillary malformations, congenital 10.0
16 nephrolithiasis, calcium oxalate 10.0
17 hydrocephalus, congenital, 1 10.0
18 taurodontism 10.0
19 intraocular pressure quantitative trait locus 10.0
20 urolithiasis 10.0
21 juvenile glaucoma 10.0
22 premature menopause 10.0
23 primary hyperparathyroidism 10.0
24 synostosis 10.0
25 hyperparathyroidism 10.0
26 primary angle-closure glaucoma 10.0
27 ventricular septal defect 10.0
28 heart septal defect 10.0
29 dyslexia 10.0
30 cataract 10.0
31 learning disability 10.0
32 radioulnar synostosis 10.0
33 hypotonia 10.0

Graphical network of the top 20 diseases related to 48,xxxy Syndrome:



Diseases related to 48,xxxy Syndrome

Symptoms & Phenotypes for 48,xxxy Syndrome

Human phenotypes related to 48,xxxy Syndrome:

58 30 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
2 intellectual disability, mild 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001256
3 azoospermia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000027
4 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
5 infertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000789
6 hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000135
7 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
8 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
9 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
10 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
11 open bite 58 30 Frequent (33%) Frequent (79-30%)
HP:0010807
12 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
13 carious teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000670
14 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
15 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
16 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
17 autism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000717
18 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
19 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
20 asthma 58 30 Frequent (33%) Frequent (79-30%)
HP:0002099
21 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000457
22 upslanted palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000582
23 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
24 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
25 taurodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000679
26 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
27 radioulnar synostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002974
28 hypoplasia of penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008736
29 down-sloping shoulders 58 30 Frequent (33%) Frequent (79-30%)
HP:0200021
30 gynecomastia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000771
31 tall stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0000098
32 elbow dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0003042
33 small scrotum 30 Frequent (33%) HP:0000046
34 abnormal dental enamel morphology 30 Frequent (33%) HP:0000682
35 abnormal epiphysis morphology 30 Frequent (33%) HP:0005930
36 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
37 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
38 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
39 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
40 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
41 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
42 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
43 delayed speech and language development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000750
44 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
45 brachycephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000248
46 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
47 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
48 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001513
49 irritability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000737
50 venous thrombosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004936

Drugs & Therapeutics for 48,xxxy Syndrome

Drugs for 48,xxxy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 384)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
2
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
3
Cobicistat Approved Phase 4 1004316-88-4 24950485 25151504
4
Rilpivirine Approved Phase 4 500287-72-9 6451164
5
Elvitegravir Approved Phase 4 697761-98-1 23083982 5277135
6
Amantadine Approved Phase 4 768-94-5 2130
7
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
8
Rifabutin Approved, Investigational Phase 4 72559-06-9 46783538 6323490
9
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
10
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
11
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
12
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
13
Abacavir Approved, Investigational Phase 4 136470-78-5, 188062-50-2 441300
14
Zidovudine Approved Phase 4 30516-87-1 35370
15
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
16
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
17
Nevirapine Approved Phase 4 129618-40-2 4463
18
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
19
Cefuroxime Approved Phase 4 55268-75-2 5479529
20
Cefazolin Approved Phase 4 25953-19-9 33255
21
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
22
Insulin aspart Approved Phase 4 116094-23-6 16132418
23
Insulin lispro Approved Phase 4 133107-64-9 16132438
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
25
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
26
Acetaminophen Approved Phase 4 103-90-2 1983
27
Etravirine Approved Phase 4 269055-15-4 193962
28
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
29
Glimepiride Approved Phase 4 93479-97-1 3476
30
Saxagliptin Approved Phase 4 361442-04-8 11243969
31
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521 16682734
32
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
33
Nelfinavir Approved Phase 4 159989-64-7 64143
34
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
35
Indinavir Approved Phase 4 150378-17-9 5362440
36
Didanosine Approved Phase 4 69655-05-6 50599
37
Atorvastatin Approved Phase 4 134523-00-5 60823
38
Omalizumab Approved, Investigational Phase 4 242138-07-4
39
Interferon alfacon-1 Approved, Investigational Phase 4 118390-30-0
40
Rosiglitazone Approved, Investigational Phase 4 122320-73-4, 155141-29-0 77999
41
Hydroxyurea Approved Phase 4 127-07-1 3657
42
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
43
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
44
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
45
Orphenadrine Approved Phase 4 83-98-7 4601
46
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294
47
Framycetin Approved, Experimental, Vet_approved Phase 4 1404-04-2, 119-04-0, 3947-65-7 413349 8378
48
Fluocinolone acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
49
Pamidronic acid Approved Phase 4 40391-99-9 4674
50
Golimumab Approved Phase 4 476181-74-5

Interventional clinical trials:

(show top 50) (show all 336)
# Name Status NCT ID Phase Drugs
1 A Phase IV Multicenter Study of the Efficacy and Safety of 48-Week Induction Treatment With TRIZIVIR (Abacavir 300 Mg/Lamivudine 150 Mg/Zidovudine 300 Mg Combination Tablet BID) With Efavirenz (600 Mg QD) Followed by 48-Week Randomized, Open-Label, Maintenance Treatment With TRIZIVIR With or Without Efavirenz in HIV-1 Infected Antiretroviral Therapy Naive Subjects Unknown status NCT00011895 Phase 4 Abacavir sulfate, Lamivudine and Zidovudine;Efavirenz
2 Chlorhexidine Gluconate for Prevention of Ventilator Associated Pneumonia in a Pediatric Intensive Care Unit. Unknown status NCT01883596 Phase 4 0.12% chlorhexidine solution;Placebo
3 An Open Label, Randomized, Parallel Design Estimation Pilot Study to Compare the Effectiveness of 36 vs 48 Wks PegIntron Plus Ribavirin Treatment for HCV Patients Without Rapid Virologic Response(RVR) But With Undetectable HCV RNA at wk 8 Unknown status NCT01683786 Phase 4 Pegintron + Riba
4 Multi-center, Randomized, Open Label, Comparative, Phase IV Study to Evaluate the Efficacy and Safety of a Combination of Mycophenolate Mofetil and Corticosteroid for 48 Weeks in Advanced IgA Nephropathy Unknown status NCT02981212 Phase 4 Mycophenolate Mofetil;ACE inhibitor;Corticosteroid;ARB
5 Open Label Phase 4, 48 Week Pilot Study of the Antiviral Efficacy and Tolerability of the Combination of Isentress™ and ReyatazTM When Substituted for Current Antiviral Regimen in Patients With Viral Suppression But Who Are Experiencing Adverse Events Related to Their Current Antiviral Regimen. Unknown status NCT00751153 Phase 4 Raltegravir and Atazanavir
6 An Open-Label, Multicenter Study to Evaluate the Efficacy and Safety of a Fixed-Dose Combination of Abacavir 600 mg/Lamivudine 300 mg Once-Daily in Combination With Atazanavir 300 mg + Ritonavir 100 mg Once-Daily in Antiretroviral-Naïve HIV-1 Infected Subjects With Continuing Evaluation of Abacavir/Lamivudine Plus Atazanavir 400 mg for Maintenance Over an Additional 48 Weeks Unknown status NCT00426296 Phase 4 atazanavir (Reyataz);ritonavir (Norvir)
7 Cost-effectiveness of Different Antiretroviral Treatment in Patients HIV Naive. Randomized Clinical, Not Masked, Trial Comparing DRVr3TC, ABC3TC (Kivexa) RPV, or EVG COBI FTC TDF (Stribild) for 48 Weeks Unknown status NCT02470650 Phase 4 elvitegravir/cobicistat/emtricitabine/tenofovir;Darunavir;abacavir/lamivudine;Ritonavir;Lamivudine;rilpivirine
8 Randomized, Multi-Center, Partially Placebo-Controlled Phase IV-Study to Compare Efficacy and Tolerability of 48-Week Combined Therapy With Peginterferon Alfa-2a, Ribavirin and Amantadine Sulphate Versus Placebo in Untreated Patients With Chronic Hepatitis C Virus-Genotype-1-Infection Unknown status NCT00127777 Phase 4 Amantadine sulphate (in addition to standard treatment)
9 Open, Randomized and Multicenter Phase IV Study to Compare the Efficacy and Safety of Two Different Treatments Duration 24 Versus 48 Weeks in Chronic Hepatitis C Genotypes 2 and/or 3 co-Infected HIV-HCV Patients. Unknown status NCT00611819 Phase 4 Peg interferon + Ribavirin
10 A Prospective, Randomized, Multicenter, Open-label Study Evaluating HBeAg Seroconversion in HBeAg Positive CHB Patients on Treatment With NA Switched to Combined Therapy With Peginterferon Alfa-2a and NA for 48 Weeks Unknown status NCT02474316 Phase 4 Peginterferon alfa-2a;nucleos(t)ide analgoue
11 Efficacy and Safety of an Initial Regimen Raltegravir (RAL) + Lamivudine/Abacavir Fixed-Dose Combination (3TC/ABC FDC) for 48 Weeks in ART-naïve, HIV/TB Co-Infected Adult Subjects Receiving Rifabutin-containing, 1-line Anti-TB Therapy Unknown status NCT01059422 Phase 4 Raltegravir; Abacavir/Lamivudine
12 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
13 A Phase IV, Open Label, Multi-Center, Study of Maintenance Intravitreous Injections of Macugen (Pegaptanib Sodium) Given Every 6 Weeks for 48 Weeks in Subjects With Subfoveal Neovascular Age-Related Macular Degeneration (AMD) Initially Treated With a Modality Resulting in Maculopathy Improvement Unknown status NCT00354445 Phase 4 pegaptanib sodium (Macugen)
14 Long-term Follow up of Patients With Relapsing-remitting Multiple Sclerosis Enrolled in the Multicenter, Single-arm, Open-label Biobank Study (CFTY720DDE01), to Investigate Changes in Biomarkers After 48 Months of Treatment With 0.5 mg Fingolimod (FTY720) Completed NCT02720107 Phase 4 fingolimod
15 A Phase IV, Prospective, Multicenter , Randomized Open Label, 48 Weeks Study to Evaluate the Antiretroviral Efficacy and Safety of Atazanavir or Darunavir,Each in Combination With a Fixed Dose of Tenofovir Emtricitabine in HIV-1-infected Treatment-naïve Subjects With CD4counts Below 200 µL. Completed NCT01928407 Phase 4 DARUNAVIR;ATAZANAVIR
16 24 Versus 48 Hours of First Generation or Second Generation Cephalosporin as Prophylaxis to Reduce Surgical Site Infection in Adult Cardiac Surgery Patients: a Randomized Controlled Trial Completed NCT04303390 Phase 4 Cefuroxime;Cefazolin
17 A Comparison of the Efficacy Beyond 48 Hours of Insulin Aspart (Novolog) and Lispro (Humalog) in Insulin Pumps Completed NCT00461331 Phase 4 Insulin Aspart;Insulin Lispro
18 Randomized, Multi-Center, Phase IV, Comparative Study to Assess the Efficacy and Safety of Combined Peg-Interferon Alpha-2a (40 kD) With Ribavirin Combined Therapy for 48 or 72 Weeks of Treatment and 24 Weeks of Follow-Up in Patients With Chronic Hepatitis C, Genotype 1, Co-Infected With Human Immunodeficiency Virus Completed NCT02761629 Phase 4 Peg-Interferon Alpha-2A;Ribavirin
19 An Open-label Trial of 48-week Peginterferon Alfa-2a (PEGASYS) to Assess the Sustained Response of Chronic Hepatitis B Patients With HBeAg Seroconversion on Nucleot(s)Ide Analogue Therapy Completed NCT02068365 Phase 4 Pegyinterferon-alfa-2a
20 A Randomised, Controlled, Open-Label, 48-Week, Study To Asses Differences in Changes In Plasma Lipid Profile Between Patients On Saquinavir/Ritonavir Or Atazanavir/Ritonavir In Combination With Tenofovir Disoproxil Fumarate And Emtricitabine As A First-line Regimen. Completed NCT00389402 Phase 4 saquinavir/ritonavir;atazanavir/ritonavir
21 A Double-Blind Randomized Clinical Trial Comparing the Safety and Antiviral Activity of 48-week Clevudine and Adefovir Dipivoxil in HBeAg(-) Chronic Hepatitis B With Compensated Liver Function Completed NCT00641082 Phase 4 Clevudine;Adefovir dipivoxil
22 Efficacy and Safety of Saxagliptin and Glimepiride in Chinese Patients With Type 2 Diabetes Controlled Inadequately With Metformin Monotherapy (SPECIFY Study) : a 48-week, Multi-center, Randomized, Open-label Trial Completed NCT02280486 Phase 4 Saxagliptin;Glimepiride
23 Randomized Trial of 24 or 48 Weeks of Peginterferon Alfa-2a Plus Ribavirin for Chronic Hepatitis C Virus Genotype 1-infected Patients in Taiwan Completed NCT00495131 Phase 4 Pegylated interferon alfa-2a plus ribavirin
24 A Randomized, Controlled, Open-Label, 48-Week Study of Continuing Successfully Suppressive Treatment in HIV-1 Infected Adults With First-Line Twice-Daily Zidovudine and Lamivudine-Based Regimens Versus Pro-actively Replacing of Zidovudine and Lamivudine by Once-Daily Emtricitabine and Tenofovir Disoproxil Fumarate to Prevent Progression of or Reverse Peripheral Lipoatrophy. Completed NCT00389194 Phase 4 continuing AZT+3TC or switching AZT+3TC to TDF+ FTC
25 Multicenter, Prospective, Comparative, Randomized Controlled Clinical Trial to Evaluate the Performance and the Safety of Promelaxin® Micro-enemas Vs. Macrogol 4000 Per os in the Treatment of Functional Chronic Constipation in Children Aged Between 6 and 48 Months. Completed NCT02751411 Phase 4 Macrogol 4000
26 A 48-week Multi-centre, Open-label, Local Phase IV Study to Demonstrate the Efficacy and Safety of Adefovir Dipivoxil Tablets (10mg) in Chinese Subjects With Compensated Chronic Hepatitis B Completed NCT00441974 Phase 4 adefovir dipivoxil
27 Analysis of Lipodystrophy in HIV-Infected Individuals A Prospective, Non-randomised, 48 Week Study of the Effect of PI Containing and Non-PI Containing Antiretroviral Regimens on the Expression of Adipocyte Specific Genes, Protein Levels and Cellular Structure in HIV-infected Individuals, Naive to Therapy, Who Are Starting Therapy for the First Time Completed NCT00192660 Phase 4 Lamivudine;Stavudine;Didanosine;Zidovudine;Tenofovir;Abacavir;Efavirenz (EFV);Nevirapine;Indinavir;Saquinavir;Amprenavir;Ritonavir;Nelfinavir;Tipranavir;enfuvirtide (T20)
28 XTEND-CIU (Xolair Treatment Efficacy of Longer Duration in Chronic Idiopathic Urticaria): A Phase IV, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Omalizumab Through 48 Weeks in Patients With Chronic Idiopathic Urticaria Completed NCT02392624 Phase 4 Omalizumab;Placebo
29 Pegasys and Copegus for Asian Patients With Treatment-naive Hepatitis C Genotypes 6, 7, 8, 9: a Phase IV, Randomized, Open-labeled, Multicenter Trial Comparing 24-week vs. 48-week Therapy Completed NCT00575224 Phase 4 Pegylated interferon and ribavirin
30 A Phase IV Randomized, Multicenter, Open-Label Study to Compare the Safety, Tolerability and Efficacy of Trizivir (Abacavir 300mg, Lamivudine 150mg, and Zidovudine 300mg) BID vs Combivir (Lamivudine 150mg and Zidovudine 300mg) BID Plus Atazanavir 400mg QD in Antiretroviral Naive HIV-1 Infected Subjects Over 48 Weeks Completed NCT00082394 Phase 4 Trizivir;atazanavir;Combivir
31 A Phase IV 48-Week, Randomized, Open-Label, Multicenter Trial of Abacavir (300mg BID)/Efavirenz (600mg QD)/Didanosine (400mg QD) +/- Hydroxyurea (500mg BID) in HIV-1 Infected Subjects Failing Initial Therapy With 3TC/ZDV (or d4T) +/- Protease Inhibitor(s) Completed NCT00005018 Phase 4 Hydroxyurea;Abacavir sulfate;Efavirenz;Didanosine
32 A Phase IV, Open-label, Multicenter Study of Treatment With TRIZIVIR (Abacavir 300mg/Lamivudine 150mg/Zidovudine 300mg) Twice Daily and Tenofovir 300mg Once-daily for 48 Weeks in HIV-infected Subjects Experiencing Early Virologic Failure (ZIAGEN Intensification Protocol) Completed NCT00038506 Phase 4 abacavir/lamivudine/zidovudine;tenofovir
33 A Phase 4 Double-blind Study to Evaluate the Shedding and Immunogenicity of Trivalent and Quadrivalent Formulations of FluMist in Children 24 to < 48 Months of Age Completed NCT03143101 Phase 4
34 A Phase IV 48 Week, Open Label, Pilot Study of Kaletra and Intelence Tablets in Naive Subjects Completed NCT01045369 Phase 4 Kaletra and Intelence Tablets
35 AVANDAMET Compared to Metformin Evaluation Trial (ACME): A 48-week Randomized, Open-label, Multicenter Study to Compare the Efficacy and Tolerability of AVANDAMET to Metformin Monotherapy in Subjects With Type 2 Diabetes Mellitus Who Are Not Achieving Glycemic Control on Submaximal Metformin. Completed NCT00241605 Phase 4 rosiglitazone/metformin
36 Does a Single Oral Dose of Dexamethasone After Successful Emergency Treatment of Migraine Reduce the Incidence or Severity of Rebound Headache Within 48 Hours? Completed NCT00216736 Phase 4 Dexamethasone;placebo
37 A Phase 4 Open-Label Pilot Study of the Safety and Tolerability of High Dosage of CIFN Plus RBV Administered Daily for 48 Weeks in HCV Genotype 1 Infected Patients Who Are Nonresponders to Prior Pegylated Interferon Alfa Plus RBV Therapy Completed NCT00266318 Phase 4 Interferon Alfacon-1 and Ribavirin
38 Timing of IUI 24 or 48 Hours After Spontaneous LH Peak: a Randomised Controlled Trial Completed NCT01622023 Phase 4
39 Phase 2 Randomized Multicenter Controlled Study of Ribavirin Pre-treatment (8 Weeks) Followed by Standard Therapy With Ribavirin and Pegylated Interferon (48 Weeks) in Transplanted Patients With Recurrence of Chronic Hepatitis C Completed NCT00993122 Phase 4 ribavirin pre-treatment
40 48 Week Pilot Trial Assessing the Efficacy of Pioglitazone, Atorvastatin, Pegasys and Weight Based Ribavirin in Chronic Hepatitis C, Genotype 1 Patients Who Have Previously Relapsed or Did Not Respond to PegInterferon /Ribavirin Therapy Completed NCT00926614 Phase 4 pioglitazone (Actos);atorvastatin (Lipitor)
41 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee Arthroplasty (TKA). Prospective, Randomized, Open-label Trial to Determine if Switching From Oral to Intravenous Acetaminophen and Orphenadrine for 48 Hours After TKA Improves Outcomes. Completed NCT02449369 Phase 4 Preop acetaminophen IV;Preop orphenadrine IV;Postop oral oxycodone & acetaminophen;Postop hydromorphone IV;Postop oral orphenadrine;Postop oral oxycodone;Postop acetaminophen IV;Postop orphenadrine IV
42 A Randomized, Open Labeled, Active-Controlled Trial of 24-Week Versus 48-Week Courses of Peg-Interferon Alpha Plus Ribavirin for Genotype-1 Infected Chronic Hepatitis C Patients Completed NCT00629967 Phase 4 pegylated interferon alpha 2a and ribavirin;Pegylated interferon alfa-2a and ribavirin
43 Effect of Early 48-hour Sevoflurane Inhalation on Gas Exchange and Inflammation in Patients Presenting With Acute Respiratory Distress Syndrome (ARDS) : a Monocentric, Prospective, Randomized Study. Completed NCT02166853 Phase 4 sevoflurane;midazolam
44 A Modified 48 Hour Patch Test of Neo-Synalar Cream, Sodium Lauryl Sulfate (Positive Control) and Saline (Negative Control) Completed NCT02168478 Phase 4 Neo-Synalar Cream
45 Golimumab Versus Pamidronate for the Treatment of Axial Spondyloarthropathy: a 48-week Randomized Controlled Trial Completed NCT01718951 Phase 4 golimumab;Pamidronate
46 A Phase IV, Open Label, Multi-center Study to Assess the Effect of Intravitreal Injections of Macugen (Pegaptanib Sodium Injection) Administered Every 6 Weeks for 48 Weeks on the Corneal Endothelium. Completed NCT01573572 Phase 4 pegaptanib sodium injection
47 Study to Evaluate the Activity and Tolerability of Lopinavir/Ritonavir and Lamivudine Bitherapy Instead of a Triple Therapy That Includes Lopinavir/Ritonavir and Lamivudine or Emtricitabine in HIV Patients With Viral Suppression: Controlled Clinical Trial, Open Label, Randomized, of 48 Weeks of Follow-up Completed NCT01471821 Phase 4 antiretroviral treatment
48 A Randomized Controlled Study Compares the 48 Weeks Results of HIV-1 RNA Between Ritonavir-boosted Lopinavir Monotherapy and Ritonavir-boosted Lopinavir + Optimized Background Regimens in HIV-1 Infected Patients Who Have HIV-1 RNA <50 Copies/ml More Than 6 Months While Receiving Salvage PI-based Regimen and Previously Failed NNRTI-based Regimen Completed NCT01189695 Phase 4 Ritonavir-boosted lopinavir;optimized background regimens (OBRs)
49 A 48 Week Extension to CTBM100C2401, a Single Arm, Open-label, Multicenter, Phase IV Extension Trial to Assess Long Term Safety of Tobramycin Inhalation Powder (TIP) in Patients With Cystic Fibrosis Who Completed Participation in CTBM100C2401. Completed NCT01775137 Phase 4 TBM100
50 A Phase 4, Randomized, Open-label, Active-Controlled, Superiority Study to Evaluate the Efficacy and Safety of Tenofovir Disoproxil Fumarate (TDF) in Combination With Peginterferon α-2a (Pegasys®) Versus Standard of Care Tenofovir Disoproxil Fumarate Monotherapy or Peginterferon α-2a Monotherapy for 48 Weeks in Non-Cirrhotic Subjects With HBeAg-Positive or HBeAg-Negative Chronic Hepatitis B (CHB) Completed NCT01277601 Phase 4 TDF;Peg-IFN

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Genetic Tests for 48,xxxy Syndrome

Anatomical Context for 48,xxxy Syndrome

Organs/tissues related to 48,xxxy Syndrome:

MalaCards : Testes, Breast, Skin, Heart, Liver, Prostate, Spinal Cord

Publications for 48,xxxy Syndrome

Articles related to 48,xxxy Syndrome:

# Title Authors PMID Year
1
[XXXY syndrome. A case and review of the literature]. 62
4149962 1973
2
Cytogenetic analysis of a boy with the XXXY syndrome: origin of the X-chromosomes. 62
5438170 1970
3
[The XXXY-syndrome. Two new observations in young children and a literary review]. 62
4391865 1969

Variations for 48,xxxy Syndrome

Expression for 48,xxxy Syndrome

Search GEO for disease gene expression data for 48,xxxy Syndrome.

Pathways for 48,xxxy Syndrome

GO Terms for 48,xxxy Syndrome

Sources for 48,xxxy Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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