MCID: TRP009
MIFTS: 39

Triple X Syndrome

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

Aliases & Classifications for Triple X Syndrome

MalaCards integrated aliases for Triple X Syndrome:

Name: Triple X Syndrome 77 54 26 60
Xxx Syndrome 54 26 60
Trisomy X 54 26 60
Trisomy X Syndrome 30 74
Triplo X Syndrome 54 26
47,xxx Syndrome 26 60
47,xxx 77 26
Triple-X Chromosome Syndrome 54
Triplo-X Syndrome 60
47 Xxx Syndrome 54
Triple-X Female 54

Characteristics:

Orphanet epidemiological data:

60
trisomy x
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



Summaries for Triple X Syndrome

NIH Rare Diseases : 54 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.

MalaCards based summary : Triple X Syndrome, also known as xxx syndrome, is related to numeric sex chromosome variations and chromosome xq duplication. An important gene associated with Triple X Syndrome is SHOX (Short Stature Homeobox). The drugs Testosterone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and brain, and related phenotypes are abnormality of chromosome segregation and muscular hypotonia

Genetics Home Reference : 26 Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children.

Wikipedia : 77 Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X... more...

Related Diseases for Triple X Syndrome

Diseases related to Triple X Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 numeric sex chromosome variations 11.1
2 chromosome xq duplication 11.0
3 47, xxy 10.3
4 47,xyy 10.2
5 autoimmune disease 10.1
6 turner syndrome 10.1
7 48, xxxx 10.1
8 chromosomal triplication 10.1
9 rett syndrome 10.0
10 renovascular hypertension 9.9
11 cat eye syndrome 9.9
12 systemic lupus erythematosus 9.9
13 nondisjunction 9.9
14 renal hypodysplasia/aplasia 1 9.9
15 sjogren syndrome 9.9
16 taurodontism 9.9
17 autoimmune disease 1 9.9
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
19 ring chromosome 14 syndrome 9.9
20 hypogonadotropic hypogonadism 9.9
21 intestinal atresia 9.9
22 46 xx gonadal dysgenesis 9.9
23 epilepsy 9.9
24 focal epilepsy 9.9
25 kallmann syndrome 9.9
26 lupus erythematosus 9.9
27 encephalocele 9.9
28 lower mesodermal defects sequence 9.9
29 mosaic trisomy 8 9.9
30 sternal cleft 9.9
31 premature ovarian failure 1 9.9
32 epulis 9.9
33 congenital epulis 9.9
34 xp22.3 microdeletion syndrome 9.9
35 hypogonadism 9.9
36 hypogonadotropism 9.9
37 diabetes mellitus, noninsulin-dependent 9.7
38 thrombocytopenic purpura, autoimmune 9.7
39 lipoid congenital adrenal hyperplasia 9.7
40 autism 9.7
41 duodenal atresia 9.7
42 jejunal atresia 9.7
43 schizencephaly 9.7
44 aging 9.7
45 exstrophy of bladder 9.7
46 stroke, ischemic 9.7
47 ewing sarcoma 9.7
48 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.7
49 acute leukemia 9.7
50 diabetes mellitus 9.7

Graphical network of the top 20 diseases related to Triple X Syndrome:



Diseases related to Triple X Syndrome

Symptoms & Phenotypes for Triple X Syndrome

Human phenotypes related to Triple X Syndrome:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of chromosome segregation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002916
2 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
3 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
4 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
5 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
6 specific learning disability 60 33 frequent (33%) Frequent (79-30%) HP:0001328
7 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
8 tall stature 60 33 frequent (33%) Frequent (79-30%) HP:0000098
9 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
10 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
11 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
12 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
13 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
14 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
15 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
16 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
17 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
18 secondary amenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000869
19 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
20 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
21 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582

Drugs & Therapeutics for Triple X Syndrome

Drugs for Triple X 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
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Racepinephrine Approved 329-65-7 838
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
2 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
3 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246

Search NIH Clinical Center for Triple X Syndrome

Genetic Tests for Triple X Syndrome

Genetic tests related to Triple X Syndrome:

# Genetic test Affiliating Genes
1 Trisomy X Syndrome 30

Anatomical Context for Triple X Syndrome

MalaCards organs/tissues related to Triple X Syndrome:

42
Kidney, T Cells, Brain, Myeloid, Ovary, Thyroid, Hypothalamus

Publications for Triple X Syndrome

Articles related to Triple X Syndrome:

(show all 43)
# Title Authors Year
1
Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia. ( 29492593 )
2018
2
Behavioral and psychological features in girls and women with triple-X syndrome. ( 30070765 )
2018
3
Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome. ( 28090675 )
2017
4
Generation of integration-free induced pluripotent stem cells (GZHMUi001-A) by reprogramming peripheral blood mononuclear cells from a 47, XXX syndrome patient. ( 28925367 )
2017
5
High Myopia Associated with Triple X Syndrome. ( 27928398 )
2016
6
Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis. ( 26952785 )
2016
7
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. ( 27644018 )
2016
8
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. ( 24117978 )
2014
9
A case associated with comorbidities among cerebral infarction, idiopathic thrombocytopenic purpura, and triple x syndrome. ( 25035678 )
2014
10
Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality? ( 25200913 )
2014
11
A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome. ( 25287572 )
2014
12
Mosaic triple X syndrome in a female with primary amenorrhea. ( 23162306 )
2012
13
Autism in association with Triple X syndrome. ( 22311144 )
2012
14
The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases. ( 22582855 )
2012
15
Triple X syndrome. ( 22755288 )
2012
16
Triple x syndrome with short stature: case report and literature review. ( 23056899 )
2012
17
Fetal axillary cystic hygroma: a novel association with triple X syndrome. ( 23109196 )
2012
18
Premature ovarian aging in primary infertility: Triple X syndrome. ( 22346085 )
2011
19
Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report. ( 22054059 )
2011
20
Triple X syndrome: a review of the literature. ( 19568271 )
2010
21
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. ( 20473517 )
2010
22
Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX. ( 19762167 )
2009
23
Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report. ( 19830242 )
2009
24
Triple X syndrome with rare phenotypic presentation. ( 18759093 )
2008
25
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX. ( 17469201 )
2007
26
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. ( 16408186 )
2006
27
Jejunal atresia in an infant with triple-X syndrome. ( 15590447 )
2004
28
Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. ( 14752208 )
2004
29
Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report. ( 15641277 )
2004
30
Tall stature as presenting symptom in a girl with triple X syndrome. ( 12713263 )
2003
31
Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. ( 14556833 )
2003
32
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. ( 11515731 )
2001
33
Schizencephaly in triple-X syndrome. ( 11380928 )
2001
34
Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome. ( 10484990 )
1999
35
Neurofibromatosis complicated with XXX syndrome and renovascular hypertension. ( 8656147 )
1996
36
Dysgerminoma of the ovary in a patient with triple-X syndrome. ( 7556861 )
1995
37
Triple-X syndrome accompanied by single maxillary central incisor: case report. ( 8378162 )
1993
38
Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. ( 3346020 )
1988
39
Triple-X syndrome and premature ovarian failure. ( 6410314 )
1983
40
XXX syndrome associated with immunoglobulin deficiency and epilepsy. ( 690768 )
1978
41
Down's syndrome with G-G translocation and triple-x syndrome in the same sibship. ( 4234142 )
1967
42
The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases. ( 14452136 )
1961
43
The XXX syndrome frequency among mental defectives and fertility. ( 13701513 )
1960

Variations for Triple X Syndrome

Expression for Triple X Syndrome

Search GEO for disease gene expression data for Triple X Syndrome.

Pathways for Triple X Syndrome

GO Terms for Triple X Syndrome

Sources for Triple X 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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