MCID: 48X003
MIFTS: 33

48,xxyy Syndrome

Categories: Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for 48,xxyy Syndrome

MalaCards integrated aliases for 48,xxyy Syndrome:

Name: 48,xxyy Syndrome 49 24 55 69
Xxyy Syndrome 49 24
48,xxyy Variant of Klinefelter's Syndrome 49
48,xxyy Klinefelter Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
48,xxyy syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age;

Classifications:



Summaries for 48,xxyy Syndrome

NIH Rare Diseases : 49 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual impairment.  Other medical probelms can include congenital heart defects, bone abnormalities, tremor, obesity, type 2 diabetes and/or respiratory problems. Patients have an essentially normal life expectancy but require regular medical follow-up. Last updated: 5/7/2012

MalaCards based summary : 48,xxyy Syndrome, also known as xxyy syndrome, is related to precocious puberty and central precocious puberty, and has symptoms including inguinal hernia, azoospermia and cryptorchidism. An important gene associated with 48,xxyy Syndrome is POMC (Proopiomelanocortin). The drug Testosterone has been mentioned in the context of this disorder. Affiliated tissues include heart, testes and bone.

Genetics Home Reference : 24 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males.

Related Diseases for 48,xxyy Syndrome

Diseases related to 48,xxyy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 9.9
2 central precocious puberty 9.9
3 attention deficit-hyperactivity disorder 9.8
4 alpha-fetoprotein deficiency 9.8
5 hypogonadotropic hypogonadism 9.8
6 heart disease 9.8
7 myopia 9.8
8 hypogonadism 9.8
9 mood disorder 9.8
10 retinitis 9.8
11 neuropathy 9.8
12 tremor 9.8

Graphical network of the top 20 diseases related to 48,xxyy Syndrome:



Diseases related to 48,xxyy Syndrome

Symptoms & Phenotypes for 48,xxyy Syndrome

Human phenotypes related to 48,xxyy Syndrome:

55 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
2 azoospermia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000027
3 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
4 tall stature 55 31 frequent (33%) Frequent (79-30%) HP:0000098
5 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
6 thick lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000179
7 long face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000276
8 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
9 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
10 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
11 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
12 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
13 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
14 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
15 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 carious teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000670
17 taurodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000679
18 abnormality of dental enamel 55 31 frequent (33%) Frequent (79-30%) HP:0000682
19 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
20 psychosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000709
21 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
22 stereotypy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000733
23 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
24 gynecomastia 55 31 frequent (33%) Frequent (79-30%) HP:0000771
25 infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000789
26 hypergonadotropic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000815
27 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
28 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
29 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
30 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
31 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
32 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
33 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
34 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
35 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
36 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
37 talipes 55 31 occasional (7.5%) Occasional (29-5%) HP:0001883
38 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
39 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
40 asthma 55 31 frequent (33%) Frequent (79-30%) HP:0002099
41 apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002104
42 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
43 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
44 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
45 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
46 radioulnar synostosis 55 31 frequent (33%) Frequent (79-30%) HP:0002974
47 elbow dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0003042
48 abnormality of the shoulder 55 31 frequent (33%) Frequent (79-30%) HP:0003043
49 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
50 flat occiput 55 31 frequent (33%) Frequent (79-30%) HP:0005469

Drugs & Therapeutics for 48,xxyy Syndrome

Drugs for 48,xxyy Syndrome (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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562

Search NIH Clinical Center for 48,xxyy Syndrome

Genetic Tests for 48,xxyy Syndrome

Anatomical Context for 48,xxyy Syndrome

MalaCards organs/tissues related to 48,xxyy Syndrome:

38
Heart, Testes, Bone

Publications for 48,xxyy Syndrome

Articles related to 48,xxyy Syndrome:

(show all 19)
# Title Authors Year
1
Fertility achieved through<i>in vitro</i>fertilization in a male patient with 48,XXYY syndrome. ( 28980534 )
2017
2
A rare sex chromosome aneuploidy: 48,XXYY syndrome. ( 27489468 )
2016
3
Prenatal ultrasound diagnosis of a 48,XXYY syndrome. ( 23473874 )
2013
4
Retinal dysfunction and high myopia in association with 48,XXYY syndrome. ( 24048723 )
2013
5
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. ( 23087874 )
2012
6
Tremor in 48,XXYY syndrome. ( 19705466 )
2009
7
A case of 48,XXYY syndrome detected prenatally by QF-PCR. ( 19916722 )
2009
8
48,XXYY syndrome, mood disorder, and aggression. ( 15994727 )
2005
9
Clinical findings and phenotype in a toddler with 48,XXYY syndrome. ( 12784313 )
2003
10
Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. ( 11127505 )
2000
11
Congenital camptodactyly associated with the 48,XXYY syndrome. ( 9555582 )
1998
12
Congenital heart disease in the 48,XXYY syndrome. ( 7586648 )
1995
13
The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. ( 7526370 )
1994
14
48,XXYY syndrome associated with acromegaloidism. ( 8389624 )
1993
15
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. ( 1781953 )
1991
16
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. ( 2387088 )
1990
17
Renal hypouricaemia in a patient with 48,XXYY syndrome. ( 3714610 )
1986
18
The prenatal diagnosis of the 48,XXYY syndrome. ( 7145838 )
1982
19
The 48,XXYY syndrome. ( 568179 )
1978

Variations for 48,xxyy Syndrome

Expression for 48,xxyy Syndrome

Search GEO for disease gene expression data for 48,xxyy Syndrome.

Pathways for 48,xxyy Syndrome

GO Terms for 48,xxyy Syndrome

Sources for 48,xxyy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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