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 76 53 25 59
Xxx Syndrome 53 25 59
Trisomy X 53 25 59
Trisomy X Syndrome 29 73
Triplo X Syndrome 53 25
47,xxx Syndrome 25 59
Triple-X Chromosome Syndrome 53
Triplo-X Syndrome 59
47 Xxx Syndrome 53
Triple-X Female 53
47,xxx ( 76
47,xxx 25

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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, brain and hypothalamus, and related phenotypes are multicystic kidney dysplasia and tall stature

Genetics Home Reference : 25 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 : 76 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

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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
2 tall stature 59 32 frequent (33%) Frequent (79-30%) HP:0000098
3 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
4 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
5 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
6 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
7 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
8 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
9 secondary amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000869
10 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
11 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
12 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
13 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
14 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
15 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
16 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
17 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
18 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
19 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
20 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
21 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543

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 329-65-7 838
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 29

Anatomical Context for Triple X Syndrome

MalaCards organs/tissues related to Triple X Syndrome:

41
Kidney, Brain, Hypothalamus, T Cells, Thyroid, Bone, Ovary

Publications for Triple X Syndrome

Articles related to Triple X Syndrome:

(show all 36)
# 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
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome. ( 28090675 )
2017
3
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. ( 27644018 )
2016
4
High Myopia Associated with Triple X Syndrome. ( 27928398 )
2016
5
Triple X syndrome and puberty:A focusA on the hypothalamus-hypophysis-gonad axis. ( 26952785 )
2016
6
A case associated with comorbidities among cerebral infarction, idiopathic thrombocytopenic purpura, and triple x syndrome. ( 25035678 )
2014
7
Bladder exstrophy-epispadias complex and triple-X syndrome: Incidental finding or causality? ( 25200913 )
2014
8
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. ( 24117978 )
2013
9
Fetal axillary cystic hygroma: a novel association with triple X syndrome. ( 23109196 )
2012
10
The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases. ( 22582855 )
2012
11
Triple x syndrome with short stature: case report and literature review. ( 23056899 )
2012
12
Autism in association with Triple X syndrome. ( 22311144 )
2012
13
Mosaic triple X syndrome in a female with primary amenorrhea. ( 23162306 )
2012
14
Triple X syndrome. ( 22755288 )
2012
15
Premature ovarian aging in primary infertility: Triple X syndrome. ( 22346085 )
2011
16
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. ( 20473517 )
2010
17
Triple X syndrome: a review of the literature. ( 19568271 )
2010
18
Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX. ( 19762167 )
2009
19
Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report. ( 19830242 )
2009
20
Triple X syndrome with rare phenotypic presentation. ( 18759093 )
2008
21
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX. ( 17469201 )
2007
22
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. ( 16408186 )
2006
23
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
24
Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report. ( 15641277 )
2004
25
Jejunal atresia in an infant with triple-X syndrome. ( 15590447 )
2004
26
Tall stature as presenting symptom in a girl with triple X syndrome. ( 12713263 )
2003
27
Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. ( 14556833 )
2003
28
Schizencephaly in triple-X syndrome. ( 11380928 )
2001
29
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. ( 11515731 )
2001
30
Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome. ( 10484990 )
1999
31
Dysgerminoma of the ovary in a patient with triple-X syndrome. ( 7556861 )
1995
32
Triple-X syndrome accompanied by single maxillary central incisor: case report. ( 8378162 )
1993
33
Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. ( 3346020 )
1988
34
Triple-X syndrome and premature ovarian failure. ( 6410314 )
1983
35
Down's syndrome with G-G translocation and triple-x syndrome in the same sibship. ( 4234142 )
1967
36
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
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
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