Aliases & Classifications for 47, Xxy

MalaCards integrated aliases for 47, Xxy:

Name: 47, Xxy 53
Xxy Trisomy 53 73
Klinefelter Syndrome 73
47 Xxy 53

Classifications:



External Ids:

UMLS 73 C2930823

Summaries for 47, Xxy

NIH Rare Diseases : 53 People with 47, XXY have an extra chromosome. The X and Y chromosomes are the sex chromosomes. Females usually have two X chromosomes (46, XX) and males usually have one X and one Y chromosome (46, XY). People with 47, XXY have two X chromosomes and one Y chromosome. Some people with 47, XXY may have no noticeable signs or symptoms (features) or only mild features. Others may have more moderate to severe features. Common symptoms of 47, XXY include low testosterone, infertility, speech and language problems, and learning difficulties. Although the majority of people with 47, XXY identify as males (gender identity), some people with 47, XXY identify as female, intersex, transgender, or prefer not to identify with a gender at all. A diagnosis of 47, XXY may be suspected by signs and symptoms and confirmed by genetic testing. Diagnosis may also be made during prenatal genetic testing or infertility testing. People with 47, XXY are at an increased risk of developing diabetes, metabolic syndrome, osteoporosis, cardiovascular diseases, autoimmmune disorders, and certain mental health problems. Regular screening for these health problems is suggested. Although most males with 47, XXY are infertile, many produce sperm and may be able to conceive with assisted reproduction. A discussion about testosterone therapy with a pediatric endocrinologist is advised, even if the person with 47, XXY does not identify as male. Other features of 47, XXY may be managed by early intervention, speech therapy, occupational therapy, physical therapy, extra help in school, counseling, and social skills training.  Less commonly, some woman are found to be 47, XXY. In most of these cases, a change or mutation has been found in a gene that helps control male sexual development. Most often, women with 47, XXY are infertile, but in a few cases they have had children naturally. 

MalaCards based summary : 47, Xxy, also known as xxy trisomy, is related to numeric sex chromosome variations and hypogonadotropic hypogonadism. An important gene associated with 47, Xxy is AR (Androgen Receptor), and among its related pathways/superpathways is Nongenotropic Androgen signaling. The drugs Testosterone undecanoate and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include testes, breast and bone, and related phenotypes are Decreased substrate adherent cell growth and Increased senescence-associated beta-galactosidase protein expression after pRB stimulation

Wikipedia : 76 Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or... more...

Related Diseases for 47, Xxy

Graphical network of the top 20 diseases related to 47, Xxy:



Diseases related to 47, Xxy

Symptoms & Phenotypes for 47, Xxy

GenomeRNAi Phenotypes related to 47, Xxy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-3 8.96 CDKL5 PRKX
2 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.62 CDKL5 PRKX

Drugs & Therapeutics for 47, Xxy

Drugs for 47, Xxy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 5949-44-0
2
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 58-22-0 6013
3
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Not Applicable 58-18-4 6010
4
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Not Applicable 315-37-7 9416
5 Anabolic Agents Phase 4,Phase 2,Phase 3,Not Applicable
6 Testosterone 17 beta-cypionate Phase 4,Phase 2,Phase 3,Not Applicable
7 Androgens Phase 4,Phase 2,Phase 3,Not Applicable
8 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
12 Pharmaceutical Solutions Phase 4
13
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
14 Cathartics Phase 2, Phase 3
15 Gastrointestinal Agents Phase 2, Phase 3
16 Laxatives Phase 2, Phase 3
17 Castor Nutraceutical Phase 2, Phase 3
18
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
19
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
20
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
21
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
22
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
23
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
24 Micronutrients Phase 2
25 Dermatologic Agents Phase 2
26 Trace Elements Phase 2
27 Dihydroxycholecalciferols Phase 2
28 Vasoconstrictor Agents Phase 2
29 Vitamins Phase 2
30 Estrogens Phase 2
31 Estrogens, Conjugated (USP) Phase 2
32 Keratolytic Agents Phase 2
33 Antioxidants Phase 2
34 Protective Agents Phase 2
35 Bone Density Conservation Agents Phase 2
36 Calcium, Dietary Phase 2
37
Menthol Approved Not Applicable 2216-51-5 16666
38
Epinephrine Approved, Vet_approved 51-43-4 5816
39
Racepinephrine Approved 329-65-7 838
40 insulin
41 Chorionic Gonadotropin Not Applicable
42 Anesthetics Not Applicable
43 Insulin, Globin Zinc
44 interferons Not Applicable
45 Hemostatics
46 Epinephryl borate

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Recruiting NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
2 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
3 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
4 Androgen Effect on Klinefelter Syndrome Motor Outcome Active, not recruiting NCT00348946 Phase 2 androgen oxandrolone
5 RA-2 13-cis Retinoic Acid (Isotretinoin) Active, not recruiting NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
6 Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling Recruiting NCT01438073 Phase 1 kisspeptin 112-121;GnRH
7 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
8 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Unknown status NCT02787486
9 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
10 Adaptation Among Adolescents and Adults With Klinefelter Syndrome Completed NCT00896272
11 Klinefelter Fertility Preservation Completed NCT01817296 Not Applicable
12 Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome Completed NCT01585831 Not Applicable Testosterone gel 1%;Placebo gel
13 Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome Completed NCT00999310
14 Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome Completed NCT01703676
15 Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome Completed NCT02788136 Not Applicable human chorionic gonadotropin
16 Life Quality and Health in Patients With Klinefelter Syndrome Completed NCT01690013
17 Subcapsular Orchiectomy in Men With Klinefelter Syndrome Completed NCT01750632 Not Applicable
18 Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome Completed NCT00523835
19 Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection Completed NCT02414295 Not Applicable Mesenchymal stem cell injection
20 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
21 Development and Decline of Brain and Cognition Through the Life Span Completed NCT00880451
22 Fertility Preservation in Cases of Klinefelter Syndrome. Recruiting NCT01918280 Not Applicable
23 Fertility Assessment in Patients With Klinefelter Syndrome Recruiting NCT02461303
24 Thrombosis and Neurocognition in Klinefelter Syndrome Recruiting NCT02526628
25 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
26 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010
27 Impact of Gender and Pubertal Status on Human Plasmacytoid Dendritic Cells. PLASMACYTOKID Recruiting NCT02956980 Not Applicable
28 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246
29 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
30 Cardiometabolic Profiles of Boys With Klinefelter Syndrome Active, not recruiting NCT02723305
31 Testicular Tissue Cryopreservation for Fertility Preservation in Male Patients Facing Infertility-causing Diseases or Treatment Regimens Not yet recruiting NCT02687880
32 Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome Withdrawn NCT00347464

Search NIH Clinical Center for 47, Xxy

Genetic Tests for 47, Xxy

Anatomical Context for 47, Xxy

MalaCards organs/tissues related to 47, Xxy:

41
Testes, Breast, Bone, Brain, Whole Blood, Prostate, Medulla Oblongata

Publications for 47, Xxy

Articles related to 47, Xxy:

(show top 50) (show all 178)
# Title Authors Year
1
Hyperprolactinemia as a Side Effect of Long-Acting Injectable Risperidone Therapy or a Symptom of Klinefelter Syndrome - a Diagnostic and Therapeutic Dilemma. ( 29546865 )
2018
2
Klinefelter syndrome: more than hypogonadism. ( 29382506 )
2018
3
International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences. ( 29423966 )
2018
4
The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). ( 29406610 )
2018
5
Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity. ( 28369266 )
2017
6
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia. ( 28497001 )
2017
7
Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome. ( 28937389 )
2017
8
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28672740 )
2017
9
The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). ( 28346690 )
2017
10
Klinefelter syndrome. ( 28691621 )
2017
11
Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome. ( 28902077 )
2017
12
Sperm Retrieval in Patients with Klinefelter Syndrome: A Skewed Regression Model Analysis. ( 28670430 )
2017
13
Fluid intelligence, traits of personality and personality disorders in a cohort of adult KS patients with the classic 47, XXY karyotype. ( 28401527 )
2017
14
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28693116 )
2017
15
Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias. ( 29278518 )
2017
16
Portal Vein Thrombosis Due to an Increase in Dose of Testosterone in a Young Man with Klinefelter Syndrome. ( 29321947 )
2017
17
Expression of Estrogen Receptors Alpha (ER-I+), Beta (ER-I^), and G Protein-Coupled Receptor 30 (GPR30) in Testicular Tissue of Men with Klinefelter Syndrome. ( 27171834 )
2016
18
The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype. ( 26789125 )
2016
19
Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report. ( 27124035 )
2016
20
Leydig cell tumor found incidentally during microscopic testicular sperm extraction in patient with mosaic Klinefelter syndrome: case report. ( 27523297 )
2016
21
Klinefelter syndrome and 47,XYY syndrome in children with B cell acute lymphoblastic leukaemia. ( 27434379 )
2016
22
Thrombophilia in Klinefelter Syndrome With Deep Venous Thrombosis, Pulmonary Embolism, and Mesenteric Artery Thrombosis on Testosterone Therapy: A Pilot Study. ( 27582022 )
2016
23
LDOC1 Gene Expression in Men With Klinefelter Syndrome. ( 27076087 )
2016
24
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. ( 27644703 )
2016
25
[COMPREHENSIVE DIAGNOSTICS IN PATIENTS WITH GENOTYPE 47,XXY KLINEFELTER SYNDROME]. ( 27522732 )
2016
26
Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome. ( 27452959 )
2016
27
Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. ( 27239358 )
2016
28
A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome. ( 27504355 )
2016
29
First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome. ( 27369646 )
2016
30
Early onset of puberty in an obese boy with Klinefelter syndrome. ( 27104178 )
2016
31
Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. ( 25423570 )
2015
32
The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. ( 25052309 )
2015
33
Gynecomastia and Klinefelter Syndrome. ( 26715949 )
2015
34
Metastatic choriocarcinoma induced separate simultaneous intracerebral haemorrhages: a very rare occurrence and its novel association with Klinefelter syndrome. ( 26564116 )
2015
35
Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome. ( 25789188 )
2015
36
Social Attention in 47,XXY (Klinefelter Syndrome): Visual Scanning of Facial Expressions Using Eyetracking. ( 26018944 )
2015
37
Combined Alport syndrome and Klinefelter syndrome. ( 26554353 )
2015
38
Mediastinal mixed germ cell tumor in an infertile male with Klinefelter syndrome:A case report and literature review. ( 26881632 )
2015
39
Mild Deficits of Cortical Bone in Young Adults With Klinefelter Syndrome or Anorchia Treated With Testosterone. ( 26186297 )
2015
40
Turner Syndrome and Klinefelter Syndrome. ( 26999880 )
2015
41
A Case Report of Klinefelter Syndrome with Schizophrenia-Like Psychosis and Seizure Disorder. ( 26664093 )
2015
42
A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation. ( 26692679 )
2015
43
Bilateral congenital cataracts in an infant with Klinefelter syndrome. ( 26022594 )
2014
44
The social behavioral phenotype in boys and girls with an extra x chromosome (klinefelter syndrome and trisomy x): a comparison with autism spectrum disorder. ( 23824705 )
2014
45
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? ( 24657013 )
2014
46
Klinefelter syndrome and risk of psychosis, autism and ADHD. ( 24139812 )
2014
47
Infective endocarditis associated with mitral valve prolapse in a patient with Klinefelter syndrome. ( 24785888 )
2014
48
Donor-derived 47, XXY in an unrelated cord blood transplant recipient. ( 24555174 )
2014
49
Low INSL3 in Klinefelter syndrome is related to osteocalcin, testosterone treatment and body composition, as well as measures of the hypothalamic-pituitary-gonadal axis. ( 24659579 )
2014
50
Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome. ( 24908673 )
2014

Variations for 47, Xxy

Expression for 47, Xxy

Search GEO for disease gene expression data for 47, Xxy.

Pathways for 47, Xxy

Pathways related to 47, Xxy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.88 AR SHBG

GO Terms for 47, Xxy

Biological processes related to 47, Xxy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.26 CDKL5 PRKX
2 positive regulation of MAPK cascade GO:0043410 9.16 AR IGFBP3
3 protein phosphorylation GO:0006468 9.13 CDKL5 IGFBP3 PRKX
4 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.62 AR IGFBP3

Molecular functions related to 47, Xxy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 8.96 AR SHBG
2 androgen binding GO:0005497 8.62 AR SHBG

Sources for 47, Xxy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....