MCID: TRP009
MIFTS: 39

Triple X Syndrome

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

Aliases & Classifications for Triple X Syndrome

MalaCards integrated aliases for Triple X Syndrome:

Name: Triple X Syndrome 72 49 24 55
Xxx Syndrome 49 24 55
Trisomy X 49 24 55
Trisomy X Syndrome 28 69
Triplo X Syndrome 49 24
47,xxx Syndrome 24 55
Triple-X Chromosome Syndrome 49
Triplo-X Syndrome 55
47 Xxx Syndrome 49
Triple-X Female 49
47,xxx ( 72
47,xxx 24

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 12/7/2016

MalaCards based summary : Triple X Syndrome, also known as xxx syndrome, is related to numeric sex chromosome variations and chromosome xq duplication, and has symptoms including multicystic kidney dysplasia, tall stature and epicanthus. 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, brain and hypothalamus.

Genetics Home Reference : 24 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.

Related Diseases for Triple X Syndrome

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:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
2 tall stature 55 31 frequent (33%) Frequent (79-30%) HP:0000098
3 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
4 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
5 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
6 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
7 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
8 secondary amenorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000869
9 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
10 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
11 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
12 specific learning disability 55 31 frequent (33%) Frequent (79-30%) HP:0001328
13 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
14 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
15 abnormality of chromosome segregation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002916
16 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
17 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
18 attention deficit hyperactivity disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007018
19 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
20 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
21 depression 55 Occasional (29-5%)
22 depressivity 31 occasional (7.5%) HP:0000716

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, Investigational 58-22-0 6013
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3 Racepinephrine Approved 329-65-7
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 28

Anatomical Context for Triple X Syndrome

MalaCards organs/tissues related to Triple X Syndrome:

38
Kidney, Brain, Hypothalamus, Ovary, Thyroid, Bone

Publications for Triple X Syndrome

Articles related to Triple X Syndrome:

(show all 35)
# Title Authors Year
1
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome. ( 28090675 )
2017
2
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. ( 27644018 )
2016
3
High Myopia Associated with Triple X Syndrome. ( 27928398 )
2016
4
Triple X syndrome and puberty:A focusA on the hypothalamus-hypophysis-gonad axis. ( 26952785 )
2016
5
Bladder exstrophy-epispadias complex and triple-X syndrome: Incidental finding or causality? ( 25200913 )
2014
6
A case associated with comorbidities among cerebral infarction, idiopathic thrombocytopenic purpura, and triple x syndrome. ( 25035678 )
2014
7
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. ( 24117978 )
2013
8
The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases. ( 22582855 )
2012
9
Triple x syndrome with short stature: case report and literature review. ( 23056899 )
2012
10
Autism in association with Triple X syndrome. ( 22311144 )
2012
11
Mosaic triple X syndrome in a female with primary amenorrhea. ( 23162306 )
2012
12
Triple X syndrome. ( 22755288 )
2012
13
Fetal axillary cystic hygroma: a novel association with triple X syndrome. ( 23109196 )
2012
14
Premature ovarian aging in primary infertility: Triple X syndrome. ( 22346085 )
2011
15
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. ( 20473517 )
2010
16
Triple X syndrome: a review of the literature. ( 19568271 )
2010
17
Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report. ( 19830242 )
2009
18
Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX. ( 19762167 )
2009
19
Triple X syndrome with rare phenotypic presentation. ( 18759093 )
2008
20
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX. ( 17469201 )
2007
21
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. ( 16408186 )
2006
22
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
23
Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report. ( 15641277 )
2004
24
Jejunal atresia in an infant with triple-X syndrome. ( 15590447 )
2004
25
Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. ( 14556833 )
2003
26
Tall stature as presenting symptom in a girl with triple X syndrome. ( 12713263 )
2003
27
Schizencephaly in triple-X syndrome. ( 11380928 )
2001
28
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. ( 11515731 )
2001
29
Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome. ( 10484990 )
1999
30
Dysgerminoma of the ovary in a patient with triple-X syndrome. ( 7556861 )
1995
31
Triple-X syndrome accompanied by single maxillary central incisor: case report. ( 8378162 )
1993
32
Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. ( 3346020 )
1988
33
Triple-X syndrome and premature ovarian failure. ( 6410314 )
1983
34
Down's syndrome with G-G translocation and triple-x syndrome in the same sibship. ( 4234142 )
1967
35
The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases. ( 14452136 )
1961

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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