MCID: TRP009
MIFTS: 40

Triple X Syndrome malady

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

Aliases & Classifications for Triple X Syndrome

Aliases & Descriptions for Triple X Syndrome:

Name: Triple X Syndrome 71 50 25 56
Trisomy X 50 25 56 29
Xxx Syndrome 50 25 56
Triplo X Syndrome 50 25
47,xxx Syndrome 25 56
47,xxx 71 25
Triple-X Chromosome Syndrome 50
Trisomy X Syndrome 69
Triplo-X Syndrome 56
47 Xxx Syndrome 50
Triple-X Female 50

Characteristics:

Orphanet epidemiological data:

56
trisomy x
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA3375
MESH via Orphanet 43 D014314
UMLS via Orphanet 70 C0221033
ICD10 via Orphanet 34 Q97.0

Summaries for Triple X Syndrome

NIH Rare Diseases : 50 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 trisomy x, is related to numeric sex chromosome variations and chromosome xq duplication, and has symptoms including seizures, tremor and hypertelorism. An important gene associated with Triple X Syndrome is SHOX (Short Stature Homeobox). The drugs Aspirin and Cilostazol have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid.

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 : 71 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 all 35)
id Related Disease Score Top Affiliating Genes
1 numeric sex chromosome variations 10.8
2 chromosome xq duplication 10.7
3 collagenopathy, types ii and xi 9.8 SHOX XCE
4 premature ovarian failure 9.7
5 neurofibromatosis 9.7
6 renovascular hypertension 9.7
7 myopia 9.6
8 lipodystrophy 9.6
9 duodenitis 9.6
10 amenorrhea 9.6
11 gonadal dysgenesis 9.6
12 hypothyroidism 9.6
13 precocious puberty 9.6
14 schizencephaly 9.6
15 central precocious puberty 9.6
16 ewing sarcoma 9.6
17 cystadenoma 9.6
18 purpura 9.6
19 jejunal atresia 9.6
20 cerebritis 9.6
21 duodenal atresia 9.6
22 congenital hypothyroidism 9.6
23 congenital adrenal hyperplasia 9.6
24 infertility 9.6
25 sarcoma 9.6
26 thyroiditis 9.6
27 neonatal diabetes mellitus 9.6
28 pure red-cell aplasia 9.5
29 pycnodysostosis 9.5
30 hypogonadism 9.5
31 turner syndrome 9.5
32 mixed connective tissue disease 9.5
33 autism spectrum disorder 9.5
34 connective tissue disease 9.5
35 hypogonadotropism 9.5

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:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 tremor 56 32 Occasional (29-5%) HP:0001337
3 hypertelorism 56 32 Occasional (29-5%) HP:0000316
4 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
5 depression 56 32 Occasional (29-5%) HP:0000716
6 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
7 global developmental delay 56 32 Frequent (79-30%) HP:0001263
8 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
9 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
10 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
11 epicanthus 56 32 Frequent (79-30%) HP:0000286
12 attention deficit hyperactivity disorder 56 32 Occasional (29-5%) HP:0007018
13 anxiety 56 32 Occasional (29-5%) HP:0000739
14 secondary amenorrhea 56 32 Occasional (29-5%) HP:0000869
15 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
16 multicystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000003
17 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
18 upslanted palpebral fissure 56 32 Occasional (29-5%) HP:0000582
19 specific learning disability 56 32 Frequent (79-30%) HP:0001328
20 tall stature 56 32 Frequent (79-30%) HP:0000098
21 abnormality of chromosome segregation 56 32 Very frequent (99-80%) HP:0002916

Drugs & Therapeutics for Triple X Syndrome

Drugs for Triple X Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 83)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Cilostazol Approved Phase 4 73963-72-1 2754
3
Ticlopidine Approved Phase 4 55142-85-3 5472
4
Phenprocoumon Approved Phase 4 435-97-2 9908 54680692
5
Rivaroxaban Approved Phase 4 366789-02-8
6
Ticagrelor Approved Phase 4 274693-27-5 9871419
7
Ramipril Approved Phase 4 87333-19-5 5362129
8
Amlodipine Approved Phase 4 88150-42-9 2162
9
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
10 Dabigatran Phase 4
11 Analgesics Phase 4
12
protease inhibitors Phase 4,Phase 3,Phase 2
13 Serine Proteinase Inhibitors Phase 4
14 Neuroprotective Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Cyclooxygenase Inhibitors Phase 4
17 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
18 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2
19 Analgesics, Non-Narcotic Phase 4
20 Peripheral Nervous System Agents Phase 4
21 Vasodilator Agents Phase 4
22 Anti-Asthmatic Agents Phase 4
23 Phosphodiesterase 3 Inhibitors Phase 4
24 Phosphodiesterase Inhibitors Phase 4
25 Platelet Aggregation Inhibitors Phase 4
26 Factor Xa Inhibitors Phase 4
27 Fibrinolytic Agents Phase 4
28 Anticoagulants Phase 4
29 Protective Agents Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Purinergic P2 Receptor Antagonists Phase 4
32 Purinergic P2Y Receptor Antagonists Phase 4
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4
34 Respiratory System Agents Phase 4
35 Antipyretics Phase 4
36 Antirheumatic Agents Phase 4
37 Autonomic Agents Phase 4
38 Bronchodilator Agents Phase 4
39 Antithrombin III Phase 4
40 Antithrombins Phase 4
41 calcium channel blockers Phase 4
42 Angiotensin-Converting Enzyme Inhibitors Phase 4
43 Antihypertensive Agents Phase 4
44 Calcium, Dietary Phase 4
45 serine Nutraceutical Phase 4
46
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
47
Lopinavir Approved Phase 2, Phase 3 192725-17-0 92727
48
Efavirenz Approved, Investigational Phase 2, Phase 3 154598-52-4 64139
49
Tenofovir Approved, Investigational Phase 2, Phase 3 147127-20-6 464205
50
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Antithrombotic Triple Therapy in Humans Completed NCT01812200 Phase 4
2 Adjunctive Cilostazol Versus High Maintenance-dose ClopidogrEL in Acute Myocardial Infarction (AMI) Patients According to CYP2C19 Polymorphism Completed NCT00915733 Phase 4
3 Efficacy and Safety of Aliskiren/Ramipril/Amlodipine Compared With Ramipril/Amlodipine and Aliskiren/Amlodipine in Patients With Metabolic Syndrome Terminated NCT00542269 Phase 4
4 Treatment Simplification by Darunavir/Ritonavir 800/100 mg Once a Day Versus a Triple Combination Therapy With Darunavir/Ritonavir Completed NCT00458302 Phase 3
5 Evaluation of a Lopinavir/Ritonavir Monotherapy vs a Triple Therapy as Maintenance Regimens in HIV-1 Infected Patients Completed NCT00946595 Phase 2, Phase 3
6 Efficacy and Safety Study of Miconazole Lauriad to Treat Oropharyngeal Candidiasis in HIV Patients Completed NCT00390780 Phase 3
7 Bone Mineral Density in Human Immunodeficiency Virus Type 1 (HIV-1)-Infected Adult Subjects Switching From a Tenofovir Regimen to a Dolutegravir Plus Rilpivirine Regimen Active, not recruiting NCT02478632 Phase 3
8 A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate Cancer Recruiting NCT02203513 Phase 2
9 A Pilot Study of MONOtherapy of DOlutegravir in HIV-1 Virologically Suppressed Patients Active, not recruiting NCT02572947 Phase 2
10 Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy Active, not recruiting NCT00892736 Phase 1
11 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
12 Evaluating Strategies to Reduce Mother-to-Child Transmission of HIV Infection in Resource-Limited Countries Completed NCT01061151
13 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246
14 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010
15 Multiple Gestation Study Recruiting NCT02278536
16 High Risk Multiple Gestation Study Recruiting NCT02278874
17 NIPD on CFTC for Triplet Repeat Diseases Not yet recruiting NCT03087526

Search NIH Clinical Center for Triple X Syndrome

Genetic Tests for Triple X Syndrome

Genetic tests related to Triple X Syndrome:

id Genetic test Affiliating Genes
1 Trisomy X Syndrome 29

Anatomical Context for Triple X Syndrome

MalaCards organs/tissues related to Triple X Syndrome:

39
Kidney, Bone, Thyroid, Ovary, Hypothalamus

Publications for Triple X Syndrome

Articles related to Triple X Syndrome:

(show all 34)
id 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
Triple X syndrome and puberty:A focusA on the hypothalamus-hypophysis-gonad axis. ( 26952785 )
2016
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
A case associated with comorbidities among cerebral infarction, idiopathic thrombocytopenic purpura, and triple x syndrome. ( 25035678 )
2014
6
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. ( 24117978 )
2013
7
The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases. ( 22582855 )
2012
8
Triple x syndrome with short stature: case report and literature review. ( 23056899 )
2012
9
Fetal axillary cystic hygroma: a novel association with triple X syndrome. ( 23109196 )
2012
10
Triple X syndrome. ( 22755288 )
2012
11
Mosaic triple X syndrome in a female with primary amenorrhea. ( 23162306 )
2012
12
Autism in association with Triple X syndrome. ( 22311144 )
2012
13
Premature ovarian aging in primary infertility: Triple X syndrome. ( 22346085 )
2011
14
Triple X syndrome: a review of the literature. ( 19568271 )
2010
15
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. ( 20473517 )
2010
16
Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX. ( 19762167 )
2009
17
Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report. ( 19830242 )
2009
18
Triple X syndrome with rare phenotypic presentation. ( 18759093 )
2008
19
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX. ( 17469201 )
2007
20
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. ( 16408186 )
2006
21
Jejunal atresia in an infant with triple-X syndrome. ( 15590447 )
2004
22
Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report. ( 15641277 )
2004
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
Tall stature as presenting symptom in a girl with triple X syndrome. ( 12713263 )
2003
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
Schizencephaly in triple-X syndrome. ( 11380928 )
2001
27
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. ( 11515731 )
2001
28
Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome. ( 10484990 )
1999
29
Dysgerminoma of the ovary in a patient with triple-X syndrome. ( 7556861 )
1995
30
Triple-X syndrome accompanied by single maxillary central incisor: case report. ( 8378162 )
1993
31
Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. ( 3346020 )
1988
32
Triple-X syndrome and premature ovarian failure. ( 6410314 )
1983
33
Down's syndrome with G-G translocation and triple-x syndrome in the same sibship. ( 4234142 )
1967
34
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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