MCID: 49X002
MIFTS: 35

49,xxxxy Syndrome

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

Aliases & Classifications for 49,xxxxy Syndrome

MalaCards integrated aliases for 49,xxxxy Syndrome:

Name: 49,xxxxy Syndrome 54 26 60 74
Xxxxy Syndrome 54 26
49,xxxxy Chromosomal Anomaly 26
Chromosome Xxxxy Syndrome 26
Xxxxy Aneuploidy 26
49,xxxxy 54

Characteristics:

Orphanet epidemiological data:

60
49,xxxxy syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: any age;

Classifications:



Summaries for 49,xxxxy Syndrome

NIH Rare Diseases : 54 49,XXXXY syndrome is a type of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Signs and symptoms of 49,XXXXY syndrome can vary but may include learning difficulties or intellectual disability; low muscle tone; hypogonadism; infertility; delayed growth; distinctive facial features; and a variety of birth defects that may affect the heart, bones, brain and/or kidneys. It is usually not inherited and caused by a random error in cell division. Treatment depends on the features in each person and is often managed by a multidisciplinary team.

MalaCards based summary : 49,xxxxy Syndrome, also known as xxxxy syndrome, is related to hypogonadotropic hypogonadism and 47, xxy. The drug Testosterone has been mentioned in the context of this disorder. Affiliated tissues include heart, brain and bone, and related phenotypes are intellectual disability and muscular hypotonia

Genetics Home Reference : 26 49,XXXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.

Wikipedia : 77 49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in... more...

Related Diseases for 49,xxxxy Syndrome

Diseases related to 49,xxxxy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 11.1
2 47, xxy 11.1
3 growth hormone deficiency 10.1
4 nondisjunction 10.1
5 48, xxxx 10.1
6 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
7 patent ductus arteriosus 1 10.0
8 pulmonary hypertension 10.0
9 heart disease 10.0
10 myopia 10.0
11 ventricular septal defect 10.0
12 cleft palate, isolated 10.0
13 lymphatic malformation 7 10.0
14 hypoplastic right heart syndrome 10.0
15 leydig cell tumor 10.0
16 cystic lymphangioma 10.0
17 49, xxxxx 10.0
18 fetal edema 10.0
19 hydrops fetalis 10.0
20 epignathus 10.0
21 congenital knee dislocation 10.0
22 ureterocele 10.0
23 renal hypodysplasia/aplasia 1 10.0
24 diabetes mellitus 10.0
25 hydronephrosis 10.0
26 gestational diabetes 10.0
27 synostosis 10.0

Graphical network of the top 20 diseases related to 49,xxxxy Syndrome:



Diseases related to 49,xxxxy Syndrome

Symptoms & Phenotypes for 49,xxxxy Syndrome

Human phenotypes related to 49,xxxxy Syndrome:

60 33 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 open bite 60 33 hallmark (90%) Very frequent (99-80%) HP:0010807
5 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
6 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
7 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
8 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
9 azoospermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000027
10 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
11 infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000789
12 language impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002463
13 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
14 abnormality of epiphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005930
15 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
16 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
17 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
18 chronic otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000389
19 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
20 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
21 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
22 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
23 coxa valga 60 33 frequent (33%) Frequent (79-30%) HP:0002673
24 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
25 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
26 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
27 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
28 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
29 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
30 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
31 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
32 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
33 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
34 asthma 60 33 frequent (33%) Frequent (79-30%) HP:0002099
35 taurodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000679
36 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
37 radioulnar synostosis 60 33 frequent (33%) Frequent (79-30%) HP:0002974
38 down-sloping shoulders 60 33 frequent (33%) Frequent (79-30%) HP:0200021
39 gynecomastia 60 33 frequent (33%) Frequent (79-30%) HP:0000771
40 scrotal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000046
41 renal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000110
42 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
43 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
44 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
45 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
46 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
47 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
48 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
49 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
50 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175

Drugs & Therapeutics for 49,xxxxy Syndrome

Drugs for 49,xxxxy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 10204 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
2 Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome Withdrawn NCT00347464

Search NIH Clinical Center for 49,xxxxy Syndrome

Genetic Tests for 49,xxxxy Syndrome

Anatomical Context for 49,xxxxy Syndrome

MalaCards organs/tissues related to 49,xxxxy Syndrome:

42
Heart, Brain, Bone, Kidney

Publications for 49,xxxxy Syndrome

Articles related to 49,xxxxy Syndrome:

(show top 50) (show all 59)
# Title Authors Year
1
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum. ( 30031153 )
2019
2
MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME. ( 27617393 )
2018
3
Severe myelinopathy in 49,XXXXY syndrome. ( 28627968 )
2018
4
Prenatal presentation of 49,XXXXY syndrome. ( 28940214 )
2017
5
Frontal Aslant Tract Abnormality on Diffusion Tensor Imaging in an Aphasic Patient With 49, XXXXY Syndrome. ( 26706051 )
2016
6
Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects. ( 26767114 )
2016
7
Neonatal diagnosis of 49, XXXXY syndrome. ( 26000009 )
2015
8
The XXXXY syndrome: a new case with talamic lesion. ( 25365858 )
2014
9
Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. ( 23667827 )
2013
10
50 years ago in The Journal of Pediatrics: the XXXXY syndrome: a report of a case and review of the literature. ( 24274199 )
2013
11
Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. ( 22156792 )
2012
12
49, XXXXY syndrome: an Italian child. ( 22570969 )
2012
13
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome. ( 22980072 )
2012
14
An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. ( 23032147 )
2012
15
Leg ulcer in a patient with 49, XXXXY syndrome. ( 21352338 )
2011
16
Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. ( 21362043 )
2011
17
Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. ( 20503329 )
2010
18
A Sri Lankan child with 49,XXXXY syndrome. ( 21206706 )
2010
19
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations. ( 19797926 )
2009
20
Brain magnetic resonance imaging findings in 49,XXXXY syndrome. ( 18486832 )
2008
21
Proximal tibiofibular synostosis with 49,XXXXY syndrome, a rare congenital bone anomaly. ( 18696202 )
2008
22
Case report: 49, XXXXY syndrome and high myopia. ( 17718889 )
2007
23
Oral aspects of 49, XXXXY syndrome: a case report. ( 18477435 )
2007
24
49,XXXXY syndrome with diabetes mellitus. ( 16357485 )
2006
25
Patent ductus arteriosus, ventricular septal defect and pulmonary hypertension in a child with 49, XXXXY syndrome. ( 17100209 )
2006
26
49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. ( 16302576 )
2005
27
A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome. ( 16152650 )
2005
28
49, XXXXY syndrome. ( 15508879 )
2004
29
49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. ( 15645656 )
2004
30
Neurologic aspects of 49,XXXXY syndrome. ( 12940658 )
2003
31
Prenatal sonographic diagnosis of the 49,XXXXY syndrome. ( 12478628 )
2002
32
The dentofacial manifestations of XXXXY syndrome: a case report. ( 11310138 )
2001
33
Case of XXXXY syndrome. Development throughout adolescence and endocrine aspects. ( 11044797 )
2000
34
49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele. ( 10799004 )
1999
35
[A case of neonatal 49,XXXXY syndrome]. ( 10489762 )
1999
36
Bilateral Peter's anomaly in an infant with 49,XXXXY syndrome. ( 9559511 )
1998
37
XXXXY syndrome: report of case. ( 7577735 )
1995
38
Evolution of bone anomalies in 49,XXXXY syndrome. ( 7681724 )
1993
39
49,XXXXY syndrome: behavioural and developmental profiles. ( 1583668 )
1992
40
Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome. ( 1456296 )
1992
41
49,XXXXY syndrome: behavioural and developmental profiles. ( 1956059 )
1991
42
Hypoplasia of the corpus callosum and growth hormone deficiency in a boy with the XXXXY syndrome. ( 1773542 )
1991
43
Origin of the X chromosomes in a patient with the 49,XXXXY syndrome. ( 1969965 )
1990
44
The 49,XXXXY syndrome: clinical and psychological findings in five patients. ( 2380984 )
1990
45
The 49,XXXXY syndrome. Clinical and psychological follow-up data. ( 3168316 )
1988
46
Hormonal & H-Y antigen studies in 49, XXXXY syndrome. ( 3110059 )
1987
47
The fetal pathology of the XXXXY-syndrome. ( 3780037 )
1986
48
49,XXXXY syndrome. ( 7180880 )
1982
49
XXXXY syndrome (supra-Klinefelter) showing features of spondyloepiphyseal dysplasia. ( 104354 )
1978
50
Epiphysial dysplasia: a constant finding in the XXXXY syndrome. ( 568664 )
1978

Variations for 49,xxxxy Syndrome

Expression for 49,xxxxy Syndrome

Search GEO for disease gene expression data for 49,xxxxy Syndrome.

Pathways for 49,xxxxy Syndrome

GO Terms for 49,xxxxy Syndrome

Sources for 49,xxxxy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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