Aliases & Classifications for 47,xyy

MalaCards integrated aliases for 47,xyy:

Name: 47,xyy 76
Double Y Syndrome 53 59 29
47,xyy Syndrome 53 25 59
Xyy Syndrome 53 25 59
47, Xyy Syndrome 53 73
Xyy Karyotype 53 25
Yy Syndrome 53 25
Y Disomy 53 59
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 73
Jacob's Syndrome 25
Jacobs Syndrome 53
Xyy Syndrome ( 76
Disomy Y 53
Double Y 53

Characteristics:

Orphanet epidemiological data:

59
47,xyy syndrome
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



Summaries for 47,xyy

NIH Rare Diseases : 53 47, XYY syndrome is a syndrome (group of signs and symptoms) that affects males. For some males with this syndrome, signs and symptoms are barely noticeable. For others, signs and symptoms may include learning disabilities, speech delay, low muscle tone (hypotonia), and being taller than expected.                         47, XYY syndrome is caused by having an extra copy of the Y chromosome in every cell of the body. The syndrome is usually not inherited. Diagnosis can be made based on prenatal tests, or it may occur during childhood or adulthood if a male has signs or symptoms of the disease. Management may include special education as well as intervention or therapies for developmental delays.

MalaCards based summary : 47,xyy, also known as double y syndrome, is related to camptodactyly-arthropathy-coxa vara-pericarditis syndrome and creutzfeldt-jakob disease. An important gene associated with 47,xyy is IGFBP3 (Insulin Like Growth Factor Binding Protein 3). The drugs Testosterone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and b cells, and related phenotypes are azoospermia and cryptorchidism

Genetics Home Reference : 25 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.

Wikipedia : 76 XYY syndrome is a genetic condition in which a male has an extra Y chromosome. Symptoms are usually few.... more...

Related Diseases for 47,xyy

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



Diseases related to 47,xyy

Symptoms & Phenotypes for 47,xyy

Human phenotypes related to 47,xyy:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000027
2 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
3 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
4 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
5 micropenis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000054
6 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
7 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
8 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
9 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
10 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
11 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
12 impaired social interactions 59 32 frequent (33%) Frequent (79-30%) HP:0000735
13 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
14 oligospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000798
15 increased circulating gonadotropin level 59 32 occasional (7.5%) Occasional (29-5%) HP:0000837
16 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
17 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
18 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
19 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
20 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
21 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
22 dysgenesis of the cerebellar vermis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002195
23 abnormality of brainstem morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002363
24 male infertility 59 32 occasional (7.5%) Occasional (29-5%) HP:0003251
25 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
26 cerebellar dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007033
27 congenital stationary night blindness 59 32 frequent (33%) Frequent (79-30%) HP:0007642
28 increased serum testosterone level 59 32 occasional (7.5%) Occasional (29-5%) HP:0030088
29 varicocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0012871
30 finger clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0040019
31 impulsivity 59 32 frequent (33%) Frequent (79-30%) HP:0100710
32 behavioral abnormality 59 Frequent (79-30%)
33 autistic behavior 59 Occasional (29-5%)
34 hyperactivity 59 Frequent (79-30%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.62 IGFBP3 SRY

Drugs & Therapeutics for 47,xyy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational 58-22-0 6013
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Racepinephrine Approved 329-65-7 838
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
2 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010
3 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
4 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246

Search NIH Clinical Center for 47,xyy

Genetic Tests for 47,xyy

Genetic tests related to 47,xyy:

# Genetic test Affiliating Genes
1 Double Y Syndrome 29

Anatomical Context for 47,xyy

MalaCards organs/tissues related to 47,xyy:

41
Testes, Brain, B Cells, Heart

Publications for 47,xyy

Articles related to 47,xyy:

(show all 26)
# Title Authors Year
1
Cataract in a patient with 47,XYY sex chromosome aneuploidy. ( 29397244 )
2018
2
Crown heights in the permanent teeth of 47,XYY males. ( 28446043 )
2017
3
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive. ( 28928975 )
2017
4
Clinical aspects of infertile 47,XYY patients: a retrospective study. ( 28715980 )
2017
5
Klinefelter syndrome and 47,XYY syndrome in children with B cell acute lymphoblastic leukaemia. ( 27434379 )
2016
6
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. ( 27966732 )
2016
7
Preferential Y-Y pairing and synapsis and abnormal meiotic recombination in a 47,XYY man with non obstructive azoospermia. ( 26839593 )
2016
8
Expanding spectrum of electroclinical findings in patients with karyotype 47,XYY. ( 24332896 )
2014
9
47,XYY syndrome: clinical phenotype and timing of ascertainment. ( 23810129 )
2013
10
47,XYY Syndrome and Male Infertility. ( 24659916 )
2013
11
Oral health management of a patient with 47,XYY syndrome. ( 24311410 )
2013
12
Brain morphology in children with 47,XYY syndrome: a voxel- and surface-based morphometric study. ( 24308542 )
2013
13
Nonmosaic 47,XYY syndrome presenting with male infertility: case series. ( 21671976 )
2012
14
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. ( 22412026 )
2012
15
Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome. ( 22893477 )
2012
16
A man with 47,XYY karyotype, prolactinoma and a history of first trimester recurrent miscarriages in his wife. ( 21349809 )
2011
17
Male infertility related to an aberrant karyotype, 47,XYY: four case reports. ( 19133129 )
2009
18
An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. ( 20014371 )
2009
19
Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. ( 17940117 )
2008
20
Spontaneous resolution of cystic hygroma in 47,XYY fetus. ( 17177029 )
2007
21
Stimulant medication in 47,XYY syndrome: a report of two cases. ( 16108458 )
2005
22
Bilateral cryptorchidism associated with 47,XYY karyotype. ( 10755364 )
1999
23
Elastosis perforans serpiginosa associated with unilateral atrophoderma of Pasini and Pierini in an individual with 47,XYY karyotype. ( 9274654 )
1997
24
Taurodontism and the presence of an extra Y chromosome: study of 47,XYY males and analytical review. ( 2004742 )
1991
25
A case of male pseudohermaphroditism with normal androgen receptor binding and 47,XYY karyotype. ( 3876063 )
1985
26
47,XYY syndrome, height and institutionalization of juvenile delinquents. ( 5041537 )
1972

Variations for 47,xyy

Expression for 47,xyy

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

Pathways for 47,xyy

GO Terms for 47,xyy

Sources for 47,xyy

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69 SNOMED-CT via HPO
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73 UMLS
74 UMLS via Orphanet
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