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MCID: 48X003
MIFTS: 34

48,xxyy Syndrome

Categories: Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for 48,xxyy Syndrome

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MalaCards integrated aliases for 48,xxyy Syndrome:

Name: 48,xxyy Syndrome 53 25 59 73
Xxyy Syndrome 53 25
48,xxyy Variant of Klinefelter's Syndrome 53
48,xxyy Klinefelter Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
48,xxyy syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for 48,xxyy Syndrome

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NIH Rare Diseases : 53 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.

MalaCards based summary : 48,xxyy Syndrome, also known as xxyy syndrome, is related to 47, xxy and precocious puberty. 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, and related phenotypes are inguinal hernia and azoospermia

Genetics Home Reference : 25 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males.

Wikipedia : 76 XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Human cells... more...

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Related Diseases for 48,xxyy Syndrome

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 47, xxy 9.9
2 precocious puberty 9.9
3 central precocious puberty 9.9
4 attention deficit-hyperactivity disorder 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 peripheral nervous system disease 9.8
12 neuropathy 9.8
13 tremor 9.8

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



Diseases related to 48,xxyy Syndrome
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Symptoms & Phenotypes for 48,xxyy Syndrome

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Human phenotypes related to 48,xxyy Syndrome:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000027
3 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
4 tall stature 59 32 frequent (33%) Frequent (79-30%) HP:0000098
5 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
7 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
8 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
9 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
10 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
11 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
12 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
13 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
14 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
15 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
16 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
17 taurodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000679
18 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
19 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
20 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
21 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
22 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
23 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
24 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
25 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
26 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
27 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
28 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
29 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
30 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
31 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
32 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
33 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
34 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
35 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
36 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
37 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
38 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
39 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
40 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
41 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
42 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
43 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
44 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
45 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
46 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
47 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
48 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
49 abnormality of the shoulder 59 32 frequent (33%) Frequent (79-30%) HP:0003043
50 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
Sources

Drugs & Therapeutics for 48,xxyy Syndrome

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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

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Genetic Tests for 48,xxyy Syndrome

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Sources

Anatomical Context for 48,xxyy Syndrome

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MalaCards organs/tissues related to 48,xxyy Syndrome:

41
Heart, Testes, Bone
Sources

Publications for 48,xxyy Syndrome

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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
Retinal dysfunction and high myopia in association with 48,XXYY syndrome. ( 24048723 )
2013
4
Prenatal ultrasound diagnosis of a 48,XXYY syndrome. ( 23473874 )
2013
5
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. ( 23087874 )
2012
6
A case of 48,XXYY syndrome detected prenatally by QF-PCR. ( 19916722 )
2009
7
Tremor in 48,XXYY syndrome. ( 19705466 )
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
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Variations for 48,xxyy Syndrome

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Expression for 48,xxyy Syndrome

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

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GO Terms for 48,xxyy Syndrome

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Sources for 48,xxyy Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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