MCID: 48X002
MIFTS: 22

48,xxxy Syndrome

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

Aliases & Classifications for 48,xxxy Syndrome

MalaCards integrated aliases for 48,xxxy Syndrome:

Name: 48,xxxy Syndrome 54 26 60
Xxxy Syndrome 54 26 74
Xxxy Males 26

Characteristics:

Orphanet epidemiological data:

60
48,xxxy syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



Summaries for 48,xxxy Syndrome

NIH Rare Diseases : 54 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 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 48,XXXY syndrome can vary but may include learning difficulties; intellectual disability; low muscle tone (hypotonia); hypogonadism; delayed growth; distinctive facial features; and a variety of birth defects that may affect the genital and musculoskeletal systems. Many also have poorly developed social skills and delayed language development. This condition is not inherited and likely results from a random error in cell division. Treatment depends on the features in each individual and often involves the coordinated efforts of a multidisciplinary team of specialists. 

MalaCards based summary : 48,xxxy Syndrome, also known as xxxy syndrome, is related to hypogonadotropic hypogonadism and 47, xxy. Affiliated tissues include heart, and related phenotypes are global developmental delay and intellectual disability, mild

Genetics Home Reference : 26 48,XXXY 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 XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where males have two... more...

Related Diseases for 48,xxxy Syndrome

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

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 11.1
2 47, xxy 11.1

Symptoms & Phenotypes for 48,xxxy Syndrome

Human phenotypes related to 48,xxxy Syndrome:

60 33 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
3 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
4 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
5 azoospermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000027
6 infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000789
7 language impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002463
8 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
9 abnormality of epiphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005930
10 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
11 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
12 chronic otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000389
13 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
14 open bite 60 33 frequent (33%) Frequent (79-30%) HP:0010807
15 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
16 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
17 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
18 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
19 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
20 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
21 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
22 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
23 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
24 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
25 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
26 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
27 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
28 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
29 asthma 60 33 frequent (33%) Frequent (79-30%) HP:0002099
30 taurodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000679
31 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
32 radioulnar synostosis 60 33 frequent (33%) Frequent (79-30%) HP:0002974
33 down-sloping shoulders 60 33 frequent (33%) Frequent (79-30%) HP:0200021
34 gynecomastia 60 33 frequent (33%) Frequent (79-30%) HP:0000771
35 tall stature 60 33 frequent (33%) Frequent (79-30%) HP:0000098
36 scrotal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000046
37 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
38 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
39 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
40 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
41 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
42 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
43 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
44 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
45 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
46 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
47 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
48 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
49 pulmonary embolism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002204
50 irritability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000737

Drugs & Therapeutics for 48,xxxy Syndrome

Search Clinical Trials , NIH Clinical Center for 48,xxxy Syndrome

Genetic Tests for 48,xxxy Syndrome

Anatomical Context for 48,xxxy Syndrome

MalaCards organs/tissues related to 48,xxxy Syndrome:

42
Heart

Publications for 48,xxxy Syndrome

Articles related to 48,xxxy Syndrome:

# Title Authors Year
1
Cytogenetic analysis of a boy with the XXXY syndrome: origin of the X-chromosomes. ( 5438170 )
1970

Variations for 48,xxxy Syndrome

Expression for 48,xxxy Syndrome

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

Pathways for 48,xxxy Syndrome

GO Terms for 48,xxxy Syndrome

Sources for 48,xxxy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
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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