MCID: 48X003
MIFTS: 29

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 50 25 56 69
Xxyy Syndrome 50 25
48,xxyy Variant of Klinefelter's Syndrome 50
48,xxyy Klinefelter Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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). Affiliated tissues include heart, testes and bone.

Genetics Home Reference : 25 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral 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:

id Related Disease Score Top Affiliating Genes
1 precocious puberty 9.9
2 central precocious puberty 9.9
3 neuropathy 9.7
4 tremor 9.7
5 attention deficit-hyperactivity disorder 9.7
6 heart disease 9.7
7 myopia 9.7
8 hypogonadism 9.7
9 mood disorder 9.7
10 retinitis 9.7

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:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 azoospermia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000027
3 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
4 tall stature 56 32 frequent (33%) Frequent (79-30%) HP:0000098
5 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 thick lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000179
7 long face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000276
8 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
9 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
10 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
11 chronic otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000389
12 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
13 blepharophimosis 56 32 frequent (33%) Frequent (79-30%) HP:0000581
14 upslanted palpebral fissure 56 32 frequent (33%) Frequent (79-30%) HP:0000582
15 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
16 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
17 taurodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000679
18 abnormality of dental enamel 56 32 frequent (33%) Frequent (79-30%) HP:0000682
19 delayed eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000684
20 psychosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000709
21 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
22 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
23 stereotypy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000733
24 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
25 gynecomastia 56 32 frequent (33%) Frequent (79-30%) HP:0000771
26 infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0000789
27 hypergonadotropic hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000815
28 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
29 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
30 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
31 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
32 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
33 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
34 tremor 56 32 frequent (33%) Frequent (79-30%) HP:0001337
35 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
36 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
37 pes planus 56 32 frequent (33%) Frequent (79-30%) HP:0001763
38 talipes 56 32 occasional (7.5%) Occasional (29-5%) HP:0001883
39 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
40 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
41 asthma 56 32 frequent (33%) Frequent (79-30%) HP:0002099
42 apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002104
43 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
44 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
45 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
46 lymphoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002665
47 radioulnar synostosis 56 32 frequent (33%) Frequent (79-30%) HP:0002974
48 elbow dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0003042
49 abnormality of the shoulder 56 32 frequent (33%) Frequent (79-30%) HP:0003043
50 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209

Drugs & Therapeutics for 48,xxyy Syndrome

Search Clinical Trials , 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:

39
Heart, Testes, Bone

Publications for 48,xxyy Syndrome

Articles related to 48,xxyy Syndrome:

(show all 18)
id Title Authors Year
1
A rare sex chromosome aneuploidy: 48,XXYY syndrome. ( 27489468 )
2016
2
Prenatal ultrasound diagnosis of a 48,XXYY syndrome. ( 23473874 )
2013
3
Retinal dysfunction and high myopia in association with 48,XXYY syndrome. ( 24048723 )
2013
4
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. ( 23087874 )
2012
5
A case of 48,XXYY syndrome detected prenatally by QF-PCR. ( 19916722 )
2009
6
Tremor in 48,XXYY syndrome. ( 19705466 )
2009
7
48,XXYY syndrome, mood disorder, and aggression. ( 15994727 )
2005
8
Clinical findings and phenotype in a toddler with 48,XXYY syndrome. ( 12784313 )
2003
9
Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. ( 11127505 )
2000
10
Congenital camptodactyly associated with the 48,XXYY syndrome. ( 9555582 )
1998
11
Congenital heart disease in the 48,XXYY syndrome. ( 7586648 )
1995
12
The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. ( 7526370 )
1994
13
48,XXYY syndrome associated with acromegaloidism. ( 8389624 )
1993
14
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. ( 1781953 )
1991
15
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. ( 2387088 )
1990
16
Renal hypouricaemia in a patient with 48,XXYY syndrome. ( 3714610 )
1986
17
The prenatal diagnosis of the 48,XXYY syndrome. ( 7145838 )
1982
18
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
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MGI
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48 NDF-RT
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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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