MCID: 49X006
MIFTS: 45

49, Xxxxy Syndrome

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for 49, Xxxxy Syndrome

MalaCards integrated aliases for 49, Xxxxy Syndrome:

Name: 49, Xxxxy Syndrome 19 75
49,xxxxy Syndrome 42 58 71
Xxxxy Syndrome 19 42 75
49,xxxxy 19 75
49,xxxxy Chromosomal Anomaly 42
Chromosome Xxxxy Syndrome 42
Xxxxy Aneuploidy 42
Xxxx Syndrome 75

Characteristics:


Prevelance:

49,xxxxy Syndrome: 1-9/1000000 (Europe) 58

Age Of Onset:

49,xxxxy Syndrome: Childhood 58

Classifications:

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


Summaries for 49, Xxxxy Syndrome

MedlinePlus Genetics: 42 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 48,xyyy and hypogonadotropic hypogonadism. The drugs Heptavalent Pneumococcal Conjugate Vaccine and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include testes, breast and heart, and related phenotypes are intellectual disability and hypotonia

GARD: 19 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.

Orphanet: 58 The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.

Wikipedia 75 49,xxxxy: 49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in... more...

Xxxx syndrome: Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than... 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 86)
# Related Disease Score Top Affiliating Genes
1 48,xyyy 10.6
2 hypogonadotropic hypogonadism 10.6
3 hypogonadism 10.6
4 pseudovaginal perineoscrotal hypospadias 10.4
5 synostosis 10.4
6 hypotonia 10.4
7 47 xxx syndrome 10.4
8 patent ductus arteriosus 1 10.4
9 premature menopause 10.4
10 radioulnar synostosis 10.4
11 tetrasomy x 10.3
12 hypertelorism 10.3
13 nondisjunction 10.3
14 apraxia 10.3
15 hydronephrosis 10.3
16 penis agenesis 10.3
17 cleft palate, isolated 10.2
18 down syndrome 10.2
19 renal hypodysplasia/aplasia 1 10.2
20 cryptorchidism, unilateral or bilateral 10.2
21 heart septal defect 10.2
22 agnosia 10.2
23 cataract 10.2
24 vesicoureteral reflux 10.2
25 sex-chromosome anomaly 10.2
26 hydrops fetalis, nonimmune 10.1
27 scoliosis 10.1
28 epicanthus 10.1
29 factor viii deficiency 10.1
30 strabismus 10.1
31 thrombophilia due to thrombin defect 10.1
32 ureterocele 10.1
33 hydrocephalus, congenital, 1 10.1
34 taurodontism 10.1
35 cognitive function 1, social 10.1
36 dermatitis, atopic 10.1
37 anxiety 10.1
38 pulmonary hypertension 10.1
39 aphasia 10.1
40 umbilical hernia 10.1
41 urinary tract infection 10.1
42 rickets 10.1
43 microcephaly 10.1
44 gestational diabetes 10.1
45 myopia 10.1
46 clubfoot 10.1
47 hypothyroidism 10.1
48 ventricular septal defect 10.1
49 urinary system disease 10.1
50 atrial heart septal defect 10.1

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 30 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 open bite 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010807
5 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
6 azoospermia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000027
7 hypoplasia of penis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008736
8 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
9 infertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000789
10 hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000135
11 language impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002463
12 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682
13 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
14 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
15 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
16 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
17 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
18 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
19 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
20 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
21 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
22 autism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000717
23 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
24 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
25 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
26 asthma 58 30 Frequent (33%) Frequent (79-30%)
HP:0002099
27 upslanted palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000582
28 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
29 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
30 taurodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000679
31 hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002827
32 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
33 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
34 radioulnar synostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002974
35 down-sloping shoulders 58 30 Frequent (33%) Frequent (79-30%)
HP:0200021
36 gynecomastia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000771
37 coxa valga 58 30 Frequent (33%) Frequent (79-30%)
HP:0002673
38 elbow dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0003042
39 renal dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000110
40 small scrotum 30 Frequent (33%) HP:0000046
41 abnormal epiphysis morphology 30 Frequent (33%) HP:0005930
42 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
43 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
44 depressed nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005280
45 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
46 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
47 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
48 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
49 brachycephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000248
50 cleft palate 58 30 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 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
2 Immunologic Factors Phase 4
3
Cocaine Approved, Illicit Phase 3 50-36-2 446220 5760
4
Aluminium phosphate Approved, Investigational Phase 3 7784-30-7
5
Fluticasone Approved, Experimental Phase 2, Phase 3 90566-53-3 4659387 5311101
6 Hemagglutinins Phase 3
7 Agglutinins Phase 3
8 Bronchodilator Agents Phase 2, Phase 3
9 Anti-Asthmatic Agents Phase 2, Phase 3
10 Anti-Allergic Agents Phase 2, Phase 3
11 Xhance Phase 2, Phase 3
12 Respiratory System Agents Phase 2, Phase 3
13 Anti-Inflammatory Agents Phase 2, Phase 3
14 Dermatologic Agents Phase 2, Phase 3
15 polysaccharide-K Phase 3
16
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
17
Aflibercept Approved Phase 2 862111-32-8 124490314
18
Fluorouracil Approved Phase 2 51-21-8 3385
19
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
20
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
21
Carboplatin Approved Phase 2 41575-94-4 10339178 38904
22
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
23
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556 135565230
24
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
25
Sargramostim Approved, Investigational Phase 2 123774-72-1
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
27
Molgramostim Investigational Phase 2 99283-10-0
28 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 1, Phase 2
29 Angiogenesis Inhibitors Phase 2
30 Folate Phase 2
31 Vitamin B9 Phase 2
32 Vitamin B Complex Phase 2
33 Folic Acid Antagonists Phase 2
34 Albumin-Bound Paclitaxel Phase 2
35 Antimitotic Agents Phase 2
36 Tubulin Modulators Phase 2
37 Antineoplastic Agents, Immunological Phase 2
38
Metformin Approved Phase 1 1115-70-4, 657-24-9 4091
39
Aluminum sulfate Approved Phase 1 10043-01-3
40 Immunoglobulins Phase 1
41 Antibodies Phase 1
42
Ethanol Approved 64-17-5 702
43
Bortezomib Approved, Investigational 179324-69-7 387447 93860
44
Iron Approved 7439-89-6 29936
45
Iodine Approved, Investigational 7553-56-2 807
46
Mecobalamin Approved, Investigational 13422-55-4
47
Hydroxocobalamin Approved 13422-51-0 15589840 44475014
48
Testosterone Approved, Investigational 58-22-0 5408 6013
49
Cyanocobalamin Approved, Nutraceutical 68-19-9 24892734 16212801 44176380
50
Cadexomer iodine Experimental 94820-09-4

Interventional clinical trials:

(show top 50) (show all 88)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 A PHASE 4, OPEN-LABEL, SINGLE-ARM, MULTICENTER STUDY TO DESCRIBE THE SAFETY OF 13-VALENT PNEUMOCOCCAL CONJUGATE VACCINE IN ADULTS 18 TO 49 YEARS OF AGE IN INDIA Active, not recruiting NCT05329259 Phase 4
4 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
5 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
6 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
7 A Phase III, Randomized, Multi-country Study to Evaluate the Lot-to-lot Consistency of GSK's Investigational RSV Maternal Vaccine and the Immune Response, Safety and Reactogenicity of RSV Maternal Vaccine When Co-administered With GSK's Quadrivalent Influenza D-QIV Vaccine in Healthy Non-pregnant Women 18-49 Years of Age. Completed NCT05045144 Phase 3
8 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
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 A Multicenter, Open-label, Randomized Controlled Trial to Evaluate the Efficacy of Fluticasone Propionate MDI Added to Standard Care at Early Stage of COVID-19 in Reducing the Incidence of Adverse Outcomes in Symptomatic Patients Either From 18 to 49 Year Old With Risk Factors or Older Than 50 Year Old Recruiting NCT05054322 Phase 2, Phase 3 Fluticasone Propionate
19 Immunogenicity and Safety of Quadrivalent Recombinant Influenza Vaccine (RIV4) in Children and Adolescents Aged 9 to 17 Years and Adults Aged 18 to 49 Years. Recruiting NCT05513053 Phase 3
20 A Phase III, Randomized, Double-blind, Placebo-controlled Multi-country Study to Demonstrate Efficacy of a Single Dose of Unadjuvanted RSV Maternal Vaccine, Administered IM to Pregnant Women 18 to 49 Years of Age, for Prevention of RSV Associated LRTIs in Their Infants up to 6 Months of Age Active, not recruiting NCT04605159 Phase 3 Placebo
21 A Phase III, Randomized, Open-label, Active Vaccine-controlled Crossover Study to Evaluate the Reactogenicity, Safety and Immune Response of Unadjuvanted RSV Maternal Vaccine in Healthy Non-pregnant Girls From 9 to 17 Years of Age, and in Non-pregnant Adult Women From 18 to 49 Years of Age Active, not recruiting NCT05169905 Phase 3
22 A Phase 3 Randomized, Double-blind, Active Comparator-controlled, Lot-to-Lot Consistency Study to Evaluate the Safety, Tolerability, and Immunogenicity of V116 in Adults 18 to 49 Years of Age Active, not recruiting NCT05464420 Phase 3
23 A Phase III, Double-blind, Randomized, Placebo-controlled Study to Evaluate the Safety, Reactogenicity and Immune Response of a Single Intramuscular Dose of Unadjuvanted RSV Maternal Vaccine, in High Risk Pregnant Women Aged 15 to 49 Years and Infants Born to the Vaccinated Mothers Active, not recruiting NCT04980391 Phase 3 Placebo
24 A Randomized, Observer-Blind, Multicenter, Phase 3 Study to Evaluate the Lot Consistency of a Recombinant Coronavirus-Like Particle COVID-19 Vaccine in Adults 18-49 Years of Age Not yet recruiting NCT05040789 Phase 3
25 A Phase IIIB, Open Label, Non-randomized, Controlled, Multi-country Study to Evaluate Safety, Reactogenicity and Immunogenicity of the Repeat Vaccination With 120 µg Dose of RSV Maternal Vaccine During Subsequent Pregnancy in Healthy Maternal Participants 18-49 Years of Age Withdrawn NCT05229068 Phase 3
26 A PHASE 2b, PLACEBO-CONTROLLED, RANDOMIZED, OBSERVER-BLIND STUDY TO EVALUATE THE SAFETY, TOLERABILITY, AND IMMUNOGENICITY OF A RESPIRATORY SYNCYTIAL VIRUS (RSV) VACCINE WHEN ADMINISTERED CONCOMITANTLY WITH TETANUS, DIPHTHERIA, AND ACELLULAR PERTUSSIS VACCINE (TDAP) IN HEALTHY NONPREGNANT WOMEN 18 THROUGH 49 YEARS OF AGE Completed NCT04071158 Phase 2
27 Phase 2b, Double-Blind, Randomized, Placebo-Controlled Trial to Evaluate the Efficacy and Immunogenicity of the Intramuscular Norovirus GI.1/GII.4 Bivalent Virus-like Particle Vaccine in Healthy Adults Aged 18 - 49 Years Completed NCT02669121 Phase 2
28 Immunogenicity of Two Dosages of a Split, Cell-Based, Inactivated, Trivalent Influenza Vaccine Administered in Healthy Adult Subjects Aged 18 to 49 Years Completed NCT00845429 Phase 2
29 A Phase 2 Randomized, Observer-Blind, Dose-Ranging Study to Evaluate the Immunogenicity and SAfety of Quadrivalent Seasonal Virus-Like Particle (VLP) Influenza Vaccine (Recombinant) in Healthy Young (18-49) Adults Completed NCT02307851 Phase 2
30 A Phase I/II, First-in-human, Observer-blinded, Randomized, Placebo-controlled, Parallel Group Study to Evaluate the Safety and Immunogenicity of TAP-COVID-19 SARS-CoV-2 Vaccine With CpG Adjuvant in Healthy Adults Aged 18-49 and 50-85 Completed NCT04473690 Phase 1, Phase 2
31 A PHASE 2B, RANDOMIZED, PLACEBO-CONTROLLED, OBSERVER-BLINDED TRIAL TO EVALUATE THE SAFETY, TOLERABILITY, AND IMMUNOGENICITY OF A RESPIRATORY SYNCYTIAL VIRUS (RSV) VACCINE IN PREGNANT WOMEN 18 THROUGH 49 YEARS OF AGE AND THEIR INFANTS Completed NCT04032093 Phase 2
32 A Two-Part Placebo-Controlled Evaluation of the Safety and Immunogenicity of an A/Indonesia/5/05 Recombinant Hemagglutinin Influenza H5N1 Vaccine With and Without Glucopyranosyl Lipid A (GLA-SE) in Healthy Adults 18-49 Completed NCT01147068 Phase 1, Phase 2
33 A PHASE 1/2, RANDOMIZED, PLACEBO-CONTROLLED, OBSERVER-BLINDED TRIAL TO EVALUATE THE SAFETY, TOLERABILITY, AND IMMUNOGENICITY OF A MULTIVALENT GROUP B STREPTOCOCCUS VACCINE IN HEALTHY ADULTS 18 TO 49 YEARS OF AGE Completed NCT03170609 Phase 2
34 Phase 2 Observer-Blind, Randomized Trial to Evaluate the Immunogenicity and Safety of PanBlok at Three Dose Levels Adjuvanted With a Stable Oil-in-Water Emulsion Compared With PanBlok Without Adjuvant in Healthy Adults Aged 18 to 49 Years Completed NCT01612000 Phase 1, Phase 2
35 Preference for Fluzone Vaccine Administered Intradermally Versus Intramuscularly in Healthy Adult Subjects 18-49 Years of Age Completed NCT00623181 Phase 2
36 A Phase I/II Randomized Double Blind Controlled Study to Evaluate the Safety and Immunogenicity of GPO Seasonal Trivalent Inactivated Split Virion Influenza Vaccine in Healthy Thai Adults Aged Between 18 Years to 49 Years Completed NCT02894840 Phase 1, Phase 2
37 A Randomized, Observer-Blind, Controlled Phase 1/2a Study of the Safety, Tolerability and Immunogenicity of Fluzone Administered With and Without LIQ001 in Two Cohorts of Healthy Subjects: 18-49 Years of Age and 65 Years of Age or Older. Completed NCT01224262 Phase 1, Phase 2
38 A Randomized, Double Blind, Multi-center, Phase 1/2 Study to Assess Safety and Immunogenicity of Five Dose Levels of a Reverse Genetic (RG) Reassortant H9N2 Pandemic Influenza Vaccine in Healthy Subjects Aged 18 to 49 Years Completed NCT01320696 Phase 1, Phase 2
39 OPTIMOX-aflibercept as First-line Therapy in 49 Patients With Unresectable Metastatic Colorectal Cancer. A GERCOR Feasibility Single-arm Phase II Study. Completed NCT01802684 Phase 2
40 A Phase II Trial of GM-CSF Plus Maintenance Pembrolizumab +/- Pemetrexed After Completion of First Line Chemo-Immunotherapy in Advanced Non-Small Cell Lung Cancer Patients With PDL-1 of 1%-49% Recruiting NCT04856176 Phase 2 Granulocyte-Macrophage Colony-Stimulating Factor;Pembrolizumab;pemetrexed;Paclitaxel;Carboplatin
41 A PHASE 2B, PLACEBO-CONTROLLED, RANDOMIZED, OBSERVER-BLINDED TRIAL TO EVALUATE THE SAFETY, TOLERABILITY, AND IMMUNOGENICITY OF A MULTIVALENT GROUP B STREPTOCOCCUS VACCINE WHEN ADMINISTERED CONCOMITANTLY WITH TETANUS, DIPHTHERIA, AND ACELLULAR PERTUSSIS VACCINE (TDAP) IN HEALTHY NONPREGNANT WOMEN 18 THROUGH 49 YEARS OF AGE Active, not recruiting NCT04766086 Phase 2
42 A Phase 2a/b, Randomized, Double-blind, Placebo-controlled, Parallel Group, Multicenter, Clinical Study to Evaluate the Efficacy and Safety of OG-6219 in 3 Dose Levels, in Women 18 to 49 Years of Age With Moderate to Severe Endometriosis-related Pain Not yet recruiting NCT05560646 Phase 2 OG-6219;Placebo
43 Phase I Randomized Double Blind Placebo-controlled Study of Universal Influenza Vector Vaccine "UniFluVec" of Two Dose Levels After Two Intranasal Administrations in Healthy Volunteers at the Age From 18 to 49 Years Old Completed NCT04650971 Phase 1
44 A Randomized, Double-blind, Placebo-controlled Study of the Effect of 49 Days of Treatment With Repeated Subcutaneous Doses of HIP2B to Assess Safety, Tolerability and Measures of Islet β-cell Function in Subjects With Type 2 Diabetes Mellitus Treated With Metformin Completed NCT01933256 Phase 1 HIP2B;Placebo
45 A Phase I Study of the Safety and Immunogenicity of the Recombinant Live-Attenuated Human Parainfluenza Type 1 Virus Vaccine, rHPIV1 84/del170/942A, Lot PIV1 #104A, Delivered as Nose Drops to Adults 18 to 49 Years of Age, HPIV1-Seropositive Children 15 to 59 Months of Age, and HPIV1-Seronegative Infants and Children 6 to 59 Months of Age Completed NCT00641017 Phase 1
46 A Two Part Study to Investigate the Safety and Immunogenicity of the VAX125 Influenza Vaccine in Healthy Adults Age 18-49 Years Part I: Phase I, Open-Label, Escalating Dose-Ranging Study Part II: Phase II, Double-Blind Placebo-Controlled Study Completed NCT00730457 Phase 1
47 A Phase 1, Randomized, Observer-Blind, Placebo-Controlled, Safety, Immunogenicity, and Dose Ranging Study of Purified Inactivated Zika Virus Vaccine (PIZV) Candidate in Flavivirus Naïve and Primed Healthy Adults Aged 18 to 49 Years Completed NCT03343626 Phase 1 Placebo
48 A Phase 1, Randomized, Controlled, Observer-blinded Trial To Evaluate The Safety And Immunogenicity Of A Multivalent Pneumococcal Conjugate Vaccine In Healthy Adults Aged 18 To 49 Years Completed NCT02955160 Phase 1
49 Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Tolerability of a Cell-Derived Influenza Vaccine in Healthy Adults Aged ≥18 Years and ≤ 49 Years. Completed NCT00599443 Phase 1
50 A First-in-human Phase I, Single Center, Randomized, Observer-blind, Placebo-controlled Study to Evaluate the Safety and Immune Response of Increasing Doses of OVX836 Vaccine After Intramuscular (IM) or Intranasal (IN) Administrations in Healthy Subjects Aged 18-49 Years. Completed NCT03594890 Phase 1

Search NIH Clinical Center for 49, Xxxxy Syndrome

Genetic Tests for 49, Xxxxy Syndrome

Anatomical Context for 49, Xxxxy Syndrome

Organs/tissues related to 49, Xxxxy Syndrome:

MalaCards : Testes, Breast, Heart, Brain, Skin, Lung, Lymph Node

Publications for 49, Xxxxy Syndrome

Articles related to 49, Xxxxy Syndrome:

(show top 50) (show all 30000)
# Title Authors PMID Year
1
Application of Component Separation and Short-Term Outcomes in Ventral Hernia Repairs. 62
36244222 2023
2
Quantitative phosphoproteomic analysis of mice with liver fibrosis by DIA mass spectrometry analysis with PRM verification. 62
36336261 2023
3
Risk Factors in a Pediatric Population for Postoperative Intracranial Infection Following Endoscopic Endonasal Skull Base Surgery and the Role of Antibiotic Prophylaxis. 62
36050937 2023
4
Corrigendum to "The RNA binding protein HuR influences skeletal muscle metabolic flexibility in rodents and humans" [Metab. 97 (2019) 40-49]. 62
36410080 2023
5
Yogurt Technique for Descemet Membrane Endothelial Keratoplasty Graft Preparation: Early Clinical Outcomes. 62
35942529 2023
6
The Rising Incidence of Early-Onset Colorectal Cancer in Germany. 62
36471648 2023
7
Intranasal interferon-beta alleviates anxiety and depressive-like behaviors by modulating microglia polarization in an Alzheimer's disease model. 62
36396023 2023
8
Effects of once-weekly semaglutide 2.4 mg on C-reactive protein in adults with overweight or obesity (STEP 1, 2, and 3): Exploratory analyses of three randomised, double-blind, placebo-controlled, phase 3 trials. 62
36467859 2023
9
Improved visualization of the wrist at lower radiation dose with photon-counting-detector CT. 62
35831718 2023
10
Disrupting the Link between Corporal Punishment Exposure and Adolescent Aggression: The Role of Teacher-Child Relationships. 62
36100731 2022
11
Short-Term Acoustic Effects of Speech Therapy in Transgender Women: A Randomized Controlled Trial. 62
36455242 2022
12
Efficacy of empagliflozin in heart failure with preserved versus mid-range ejection fraction: a pre-specified analysis of EMPEROR-Preserved. 62
36471037 2022
13
Breast cancer recurrence: factors impacting occurrence and survival. 62
35076871 2022
14
Identifying women with fear of childbirth with the Dutch Fear of Birth Scale and its added value for consultations. 62
34907846 2022
15
Development and validation of the Professional Nursing Support Scale for Chinese patients with cancer. 62
34658105 2022
16
Acute and long-lasting effects of adolescent fluoxetine exposure on feeding behavior in Sprague-Dawley rats. 62
36426786 2022
17
The what's, where's and why's of miscarriage: evidence from the 2017 Ghana Maternal Health Survey. 62
36334582 2022
18
Pretreatment attrition and treatment initiation delay among rifampicin-resistant tuberculosis patients in Lagos, Nigeria: a retrospective cohort study. 62
35710310 2022
19
Design, synthesis, and biological evaluation of low-toxic lappaconitine derivatives as potential analgesics. 62
36162215 2022
20
Electronically Monitored Adherence to Short-Term Antibiotic Therapy in Children. 62
36317476 2022
21
Evaluation of recurrent dislocation of the patella in children with MRI: Goldthwait technique combined with lateral release, and VMO advancement-a retrospective study of 85 knees. 62
34027575 2022
22
Pulse pressure and all-cause mortality in ischaemic heart failure patients: a prospective cohort study. 62
36223284 2022
23
Application of the long axial field-of-view PET/CT with low-dose [18F]FDG in melanoma. 62
36474125 2022
24
Learning curve and functional outcomes after laser enucleation of the prostate for benign prostate hyperplasia according to surgeon's caseload. 62
36289106 2022
25
Ambulatory Cardiac Monitoring in Infants with Supraventricular Tachycardia. 62
35570217 2022
26
Age-specific random day serum antimüllerian hormone reference values for women of reproductive age in the general population: a large Chinese nationwide population-based survey. 62
35934115 2022
27
Variability and efficacy in treatment effects on manic symptoms with lithium, anticonvulsants, and antipsychotics in acute bipolar mania: A systematic review and meta-analysis. 62
36247926 2022
28
Persistence of an epidemic cluster of Rhodotorula mucilaginosa in multiple geographic regions in China and the emergence of a 5-flucytosine resistant clone. 62
35343400 2022
29
The Journal of Rheumatology, Volume 49, 2022. 62
36455935 2022
30
Betulinic acid counteracts the lipid accumulation in Caenorhabditis elegans by modulation of nhr-49 expression. 62
36242845 2022
31
A new multi-analyte LC-MS/MS screening method for detection of 120 NPS and 49 drugs in hair. 62
36453750 2022
32
In Regards to Barufaldi et al. Med Phys 49(4), 2220-2232. 62
36468268 2022
33
Breast cancer diagnosis in Inner-City African American and Hispanic women: The importance of early screening. 62
36194959 2022
34
Pre-exposure prophylaxis with tixagevimab and cilgavimab (Evusheld) for COVID-19 among 1112 severely immunocompromised patients. 62
35926762 2022
35
Physically fit with a higher cancer risk? Influences of cervical cancer screening among a sample of physically active women ages 21-49 living in the United States. 62
36157713 2022
36
Assessment of prognostic factors in pediatric adrenocortical tumors: a systematic review and evaluation of a modified S-GRAS score. 62
36193775 2022
37
[Clinical analysis of 49 cases of non-inflammasome related conditions]. 62
36444428 2022
38
Clinical and prognostic role of 2-[18F]FDG PET/CT and sarcopenia in treatment-naïve patients with T-cell lymphoblastic lymphoma. 62
36123452 2022
39
Risk factors for depressive symptoms by age group among human immunodeficiency virus-infected adults in Korea. 62
34612099 2022
40
The effect of dietary intake on apneic performance, cardiovascular and splenic responses during repeated breath holds. 62
36222874 2022
41
Long-term metabolic fate and mortality in obesity without metabolic syndrome. 62
35594302 2022
42
Dysplastic crypts in asymmetric branching found in ulcerative colitis-associated dysplasia. 62
36308948 2022
43
Does childhood chemotherapy affect mandibular bone structures in a lifetime? 62
36459049 2022
44
Assessing Knowledge and Perceptions About Cancer Among American Indians of the Zuni Pueblo, NM. 62
33963443 2022
45
Determinants of cervical cancer screening service utilization among women attending healthcare services in Amhara region referral hospitals: a case-control study. 62
36461054 2022
46
Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY. 62
36197956 2022
47
Practices and attitudes towards tuberculosis and latent tuberculosis infection screening in people living with HIV/AIDS among HIV physicians in Japan. 62
36463211 2022
48
Effect of Intraoperative Esketamine Infusion on Postoperative Sleep Disturbance After Gynecological Laparoscopy: A Randomized Clinical Trial. 62
36454569 2022
49
Systematic Literature Review of the Use of Productivity Losses/Gains in Cost-Effectiveness Analyses of Immune-Mediated Disorders. 62
36205907 2022
50
[The impact of using intraoperative photodynamic diagnosis on the prognosis of bladder cancer]. 62
31559609 2022

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

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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