MCID: 47X001
MIFTS: 34

47,xyy Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 47,xyy Syndrome

MalaCards integrated aliases for 47,xyy Syndrome:

Name: 47,xyy Syndrome 72 25 56
Xyy Syndrome 72 50 25
47, Xyy Syndrome 50 69
Xyy Karyotype 50 25
Yy Syndrome 50 25
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 69
Double Y Syndrome 29
Jacob's Syndrome 25
Jacobs Syndrome 50
Disomy Y 56
Double Y 56

Characteristics:

Orphanet epidemiological data:

56
47,xyy syndrome
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



Summaries for 47,xyy Syndrome

NIH Rare Diseases : 50 47, xyy syndrome is a condition in males characterized by features that occur due to having an extra copy of the y chromosome in each cell. signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra y chromosome are completely unaware of its presence. appearance and intelligence are usually normal, but learning disabilities may be present. other signs and symptoms may include autism spectrum disorder (usually on the milder end); speech or motor delay; low muscle tone; asthma; tall stature; impaired social skills; adhd; and/or anxiety or mood disorders. while sexual development and infertility is usually normal, some adolescents and adults have testicular failure. 47, xyy syndrome usually is not inherited, occurring due to a random event in the formation of a sperm cell prior to conception. management depends on the symptoms in each person and may include intervention or therapies for developmental delays, behavior or mood disorders; and/or special education. last updated: 4/12/2016

MalaCards based summary : 47,xyy Syndrome, also known as xyy syndrome, is related to camptodactyly-arthropathy-coxa vara-pericarditis syndrome and creutzfeldt-jakob disease, and has symptoms including azoospermia, cryptorchidism and hypospadias. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain and b cells.

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 males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children.

Wikipedia : 72 XYY syndrome, also known as YY syndrome or Jacobs syndrome, is a genetic condition in which a human male... more...

Related Diseases for 47,xyy Syndrome

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

(show all 19)
id Related Disease Score Top Affiliating Genes
1 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 11.2
2 creutzfeldt-jakob disease 10.8
3 male infertility 9.9
4 infertility 9.9
5 microcephaly 9.8
6 brachydactyly 9.8
7 oligohydramnios 9.8
8 gonadal dysgenesis 9.8
9 williams-beuren syndrome 9.7
10 radioulnar synostosis 9.7
11 acne 9.7
12 heart disease 9.7
13 clubfoot 9.7
14 synostosis 9.7
15 neuroleptic malignant syndrome 9.7
16 ring chromosome 13 9.7
17 hypospadias 9.4
18 hypertrophic pyloric stenosis 9.4
19 pyloric stenosis 9.4

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



Diseases related to 47,xyy Syndrome

Symptoms & Phenotypes for 47,xyy Syndrome

Human phenotypes related to 47,xyy Syndrome:

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000027
2 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
3 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
4 macroorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000053
5 micropenis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000054
6 tall stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0000098
7 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
8 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
9 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
10 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
11 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
12 impaired social interactions 56 32 frequent (33%) Frequent (79-30%) HP:0000735
13 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
14 oligospermia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000798
15 increased circulating gonadotropin level 56 32 occasional (7.5%) Occasional (29-5%) HP:0000837
16 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
17 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
18 motor delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001270
19 neonatal hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001319
20 specific learning disability 56 32 frequent (33%) Frequent (79-30%) HP:0001328
21 asthma 56 32 frequent (33%) Frequent (79-30%) HP:0002099
22 dysgenesis of the cerebellar vermis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002195
23 abnormality of brainstem morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0002363
24 male infertility 56 32 occasional (7.5%) Occasional (29-5%) HP:0003251
25 attention deficit hyperactivity disorder 56 32 frequent (33%) Frequent (79-30%) HP:0007018
26 cerebellar dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0007033
27 congenital stationary night blindness 56 32 frequent (33%) Frequent (79-30%) HP:0007642
28 varicocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0012871
29 finger clinodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0040019
30 impulsivity 56 32 frequent (33%) Frequent (79-30%) HP:0100710
31 behavioral abnormality 56 Frequent (79-30%)
32 autistic behavior 56 Occasional (29-5%)
33 hyperactivity 56 Frequent (79-30%)
34 increased testosterone 56 Occasional (29-5%)
35 increased serum testosterone level 32 occasional (7.5%) HP:0030088

Drugs & Therapeutics for 47,xyy Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2 Racepinephrine Approved
3 Epinephryl borate

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
2 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246
3 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010

Search NIH Clinical Center for 47,xyy Syndrome

Genetic Tests for 47,xyy Syndrome

Genetic tests related to 47,xyy Syndrome:

id Genetic test Affiliating Genes
1 Double Y Syndrome 29

Anatomical Context for 47,xyy Syndrome

MalaCards organs/tissues related to 47,xyy Syndrome:

39
Brain, B Cells

Publications for 47,xyy Syndrome

Articles related to 47,xyy Syndrome:

(show all 12)
id Title Authors Year
1
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive. ( 28928975 )
2017
2
Klinefelter syndrome and 47,XYY syndrome in children with B cell acute lymphoblastic leukaemia. ( 27434379 )
2016
3
Brain morphology in children with 47,XYY syndrome: a voxel- and surface-based morphometric study. ( 24308542 )
2013
4
47,XYY syndrome: clinical phenotype and timing of ascertainment. ( 23810129 )
2013
5
Oral health management of a patient with 47,XYY syndrome. ( 24311410 )
2013
6
47,XYY Syndrome and Male Infertility. ( 24659916 )
2013
7
Nonmosaic 47,XYY syndrome presenting with male infertility: case series. ( 21671976 )
2012
8
Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome. ( 22893477 )
2012
9
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. ( 22412026 )
2012
10
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
11
Stimulant medication in 47,XYY syndrome: a report of two cases. ( 16108458 )
2005
12
47,XYY syndrome, height and institutionalization of juvenile delinquents. ( 5041537 )
1972

Variations for 47,xyy Syndrome

Expression for 47,xyy Syndrome

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

Pathways for 47,xyy Syndrome

GO Terms for 47,xyy Syndrome

Sources for 47,xyy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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