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MCID: 48X003
MIFTS: 33

48,xxyy Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare 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 precocious puberty and central 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, bone and testes, and related phenotypes are hypertelorism and obesity

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 14)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 10.1
2 central precocious puberty 10.1
3 schizophrenia 10.0
4 down syndrome 10.0
5 hypothyroidism 10.0
6 epilepsy 10.0
7 hypogonadotropic hypogonadism 9.9
8 heart disease 9.9
9 myopia 9.9
10 hypogonadism 9.9
11 mood disorder 9.9
12 peripheral nervous system disease 9.9
13 neuropathy 9.9
14 tremor 9.9

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 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
8 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
9 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
10 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
11 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
12 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
13 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
14 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
15 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
16 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
17 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
18 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
19 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
20 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
21 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
22 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
23 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
24 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
25 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
26 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
27 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
28 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
29 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
30 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
31 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
32 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
33 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
34 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
35 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
36 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
37 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
38 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
39 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
40 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
41 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
42 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
43 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
44 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
45 asthma 59 32 frequent (33%) Frequent (79-30%) HP:0002099
46 azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000027
47 taurodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000679
48 flat occiput 59 32 frequent (33%) Frequent (79-30%) HP:0005469
49 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
50 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
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, Bone, Testes, Brain
Sources

Publications for 48,xxyy Syndrome

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Articles related to 48,xxyy Syndrome:

(show all 29)
# Title Authors Year
1
Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome. ( 28980534 )
2018
2
A rare sex chromosome aneuploidy: 48,XXYY syndrome. ( 27489468 )
2016
3
Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report. ( 26069418 )
2015
4
Brain and behavior in 48, XXYY syndrome. ( 26106537 )
2015
5
Retinal dysfunction and high myopia in association with 48,XXYY syndrome. ( 24048723 )
2013
6
Prenatal ultrasound diagnosis of a 48,XXYY syndrome. ( 23473874 )
2013
7
48, XXYY syndrome associated tremor. ( 23487807 )
2013
8
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. ( 23087874 )
2012
9
A case of 48,XXYY syndrome detected prenatally by QF-PCR. ( 19916722 )
2009
10
Tremor in 48,XXYY syndrome. ( 19705466 )
2009
11
A new look at XXYY syndrome: medical and psychological features. ( 18481271 )
2008
12
XXYY syndrome with schizophrenia: implications for genetic research in psychotic spectrum disorders. ( 17828661 )
2007
13
48,XXYY syndrome, mood disorder, and aggression. ( 15994727 )
2005
14
Clinical findings and phenotype in a toddler with 48,XXYY syndrome. ( 12784313 )
2003
15
Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. ( 11127505 )
2000
16
Congenital camptodactyly associated with the 48,XXYY syndrome. ( 9555582 )
1998
17
Congenital heart disease in the 48,XXYY syndrome. ( 7586648 )
1995
18
The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. ( 7526370 )
1994
19
48,XXYY syndrome associated with acromegaloidism. ( 8389624 )
1993
20
48, XXYY syndrome associated with ethylenediaminetetraacetic acid (EDTA)-dependent pseudothrombocytopenia. ( 1568036 )
1992
21
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. ( 1781953 )
1991
22
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. ( 2387088 )
1990
23
Renal hypouricaemia in a patient with 48,XXYY syndrome. ( 3714610 )
1986
24
Mental illness, epilepsy and hypothyroidism in XXYY syndrome. ( 6743937 )
1984
25
The prenatal diagnosis of the 48,XXYY syndrome. ( 7145838 )
1982
26
XXYY syndrome discovered on routine physical examination. ( 7309601 )
1980
27
The 48,XXYY syndrome. ( 568179 )
1978
28
Combined Klinefelter-Down syndrome or XXYY syndrome? ( 4271719 )
1973
29
The 48, XXYY syndrome. ( 5420564 )
1970
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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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