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 turner syndrome and camptodactyly-arthropathy-coxa vara-pericarditis syndrome. An important gene associated with 47,xyy is IGFBP3 (Insulin Like Growth Factor Binding Protein 3). The drugs Testosterone and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and bone, and related phenotypes are macrocephaly and malar flattening

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

Diseases related to 47,xyy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 turner syndrome 29.1 IGFBP3 SRY
2 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 11.5
3 creutzfeldt-jakob disease 11.1
4 47, xxy 10.5
5 male infertility 10.1
6 infertility 10.1
7 schizophrenia 10.0
8 tooth size 10.0
9 hypogonadotropic hypogonadism 10.0
10 brachydactyly 10.0
11 oligohydramnios 10.0
12 gonadal dysgenesis 10.0
13 tic disorder 10.0
14 elastosis perforans serpiginosa 9.9
15 noonan syndrome 1 9.9
16 syndactyly, type iii 9.9
17 autism 9.9
18 taurodontism 9.9
19 leukemia, acute myeloid 9.9
20 cataract 9.9
21 leukemia 9.9
22 heart disease 9.9
23 azoospermia 9.9
24 cystic lymphangioma 9.9
25 pseudohermaphroditism 9.9
26 myeloid leukemia 9.9
27 learning disability 9.9
28 waardenburg's syndrome 9.9
29 pseudo-turner syndrome 9.9
30 microcephaly 9.9
31 askin's tumor 9.9
32 complete androgen insensitivity syndrome 9.8 IGFBP3 SRY
33 radioulnar synostosis 9.7
34 williams-beuren syndrome 9.7
35 acute promyelocytic leukemia 9.7
36 diabetes mellitus 9.7
37 autism spectrum disorder 9.7
38 lymphoma 9.7
39 clubfoot 9.7
40 synostosis 9.7
41 neuroleptic malignant syndrome 9.7
42 teratoma 9.7
43 congenital radioulnar synostosis 9.7
44 ring chromosome 13 9.7
45 premature ovarian failure 1 9.7 IGFBP3 SRY
46 nondisjunction 9.6
47 hypospadias 9.6
48 hypertrophic pyloric stenosis 9.6
49 pyloric stenosis 9.6
50 germ cells tumors 9.6

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 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
3 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
4 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
5 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
9 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
10 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
11 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
12 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
13 increased circulating gonadotropin level 59 32 occasional (7.5%) Occasional (29-5%) HP:0000837
14 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
15 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
16 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
17 impaired social interactions 59 32 frequent (33%) Frequent (79-30%) HP:0000735
18 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
19 azoospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000027
20 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
21 oligospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000798
22 male infertility 59 32 occasional (7.5%) Occasional (29-5%) HP:0003251
23 micropenis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000054
24 dysgenesis of the cerebellar vermis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002195
25 abnormality of brainstem morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002363
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
Racepinephrine Approved 329-65-7 838
3
Epinephrine Approved, Vet_approved 51-43-4 5816
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, Bone, Heart, Pituitary, B Cells, Myeloid

Publications for 47,xyy

Articles related to 47,xyy:

(show top 50) (show all 164)
# Title Authors Year
1
Cataract in a patient with 47,XYY sex chromosome aneuploidy. ( 29397244 )
2018
2
Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup. ( 29471262 )
2018
3
Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent In situ Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome. ( 30058577 )
2018
4
A Novel Sex Chromosome Mosaicism 45,X/45,Y/46,XY/46,YY/47,XYY Causing Ambiguous Genitalia. ( 29263053 )
2017
5
Crown heights in the permanent teeth of 47,XYY males. ( 28446043 )
2017
6
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive. ( 28928975 )
2017
7
Clinical aspects of infertile 47,XYY patients: a retrospective study. ( 28715980 )
2017
8
Klinefelter syndrome and 47,XYY syndrome in children with B cell acute lymphoblastic leukaemia. ( 27434379 )
2016
9
Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY. ( 27672550 )
2016
10
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study. ( 27018091 )
2016
11
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
12
Preferential Y-Y pairing and synapsis and abnormal meiotic recombination in a 47,XYY man with non obstructive azoospermia. ( 26839593 )
2016
13
Esthesioneuroblastoma in a boy with 47, XYY karyotype. ( 28018456 )
2016
14
Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome. ( 26381641 )
2015
15
Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome. ( 26075116 )
2015
16
A case of 45,X/47,XYY mosaicism in a male fetus with a hypoplastic nasal bone. ( 25614411 )
2015
17
Expanding spectrum of electroclinical findings in patients with karyotype 47,XYY. ( 24332896 )
2014
18
Continuous spikes and waves during slow sleep in a child with karyotype 47, XYY. ( 24776967 )
2014
19
47,XYY syndrome: clinical phenotype and timing of ascertainment. ( 23810129 )
2013
20
47,XYY Syndrome and Male Infertility. ( 24659916 )
2013
21
Oral health management of a patient with 47,XYY syndrome. ( 24311410 )
2013
22
Brain morphology in children with 47,XYY syndrome: a voxel- and surface-based morphometric study. ( 24308542 )
2013
23
Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. ( 22281282 )
2013
24
Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes. ( 23163819 )
2012
25
Nonmosaic 47,XYY syndrome presenting with male infertility: case series. ( 21671976 )
2012
26
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. ( 22412026 )
2012
27
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation. ( 23716947 )
2012
28
Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome. ( 22893477 )
2012
29
Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. ( 23034220 )
2012
30
A man with 47,XYY karyotype, prolactinoma and a history of first trimester recurrent miscarriages in his wife. ( 21349809 )
2011
31
Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report. ( 21396087 )
2011
32
Electroclinical findings in four patients with karyotype 47,XYY. ( 20817432 )
2011
33
Asperger's disorder in an adolescent With 47,XYY chromosomal syndrome. ( 20837608 )
2011
34
Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes. ( 20178547 )
2010
35
Diagnosis and mortality in 47,XYY persons: a registry study. ( 20509956 )
2010
36
Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes. ( 21043568 )
2010
37
Male infertility related to an aberrant karyotype, 47,XYY: four case reports. ( 19133129 )
2009
38
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
39
47 XYY and morning glory syndrome--a unique association. ( 19487143 )
2009
40
Infantile autism and 47,XYY karyotype. ( 19722061 )
2009
41
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
42
Hormonal and neuropsychological evaluation of two 47,XYY patients with pituitary abnormalities. ( 18203161 )
2008
43
A case of 45,XO/47,XYY mosaicism with psychotic symptoms and neuroleptic malignant syndrome. ( 17478025 )
2007
44
Spontaneous resolution of cystic hygroma in 47,XYY fetus. ( 17177029 )
2007
45
A possible behavioural and cognitive phenotype for the 47,XYY karyotype in a pre-pubertal child. ( 17464640 )
2007
46
Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men. ( 17517402 )
2007
47
A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype. ( 17596670 )
2007
48
Sperm ultrastructure and meiotic segregation in an infertile 47, XYY man. ( 18076422 )
2007
49
Chromosome constitution and apoptosis of immature germ cells present in sperm of two 47,XYY infertile males. ( 16497695 )
2006
50
Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. ( 15832105 )
2005

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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