MCID: TRP009
MIFTS: 35

Triple X Syndrome malady

Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Triple X Syndrome

About this section


NIH Rare Diseases:41 47 xxx syndrome, also called trisomy x, 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. it 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 individual signs and symptoms that a person may have. some females with trisomy x have an extra x chromosome in only some of their cells; this is called 46,xx/47,xxx mosaicism. last updated: 9/24/2014

MalaCards based summary: Triple X Syndrome, also known as trisomy x, is related to premature ovarian failure and congenital epulis, and has symptoms including abnormality of chromosome segregation, tall stature and epicanthus. An important gene associated with Triple X Syndrome is SHOX (short stature homeobox). Affiliated tissues include kidney, eye and bone.

Genetics Home Reference:21 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:63 Triple X syndrome (also known as triplo-X, trisomy X, XXX syndrome, 47,XXX aneuploidy) is a form of... more...

Aliases & Classifications for Triple X Syndrome

About this section
Sources:
63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Triple X Syndrome, Aliases & Descriptions:

Name: Triple X Syndrome 63 41 21 47
Trisomy X 63 41 21 47 22
Xxx Syndrome 63 41 21 47
Triplo X Syndrome 63 41 21
47,xxx Syndrome 41 21 47
 
Triplo-X Syndrome 41 47
47,xxx 63 21
Triple-X Chromosome Syndrome 41
Triple-X Female 41
47 Xxx Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
trisomy x:
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy


External Ids:

Orphanet47 3375
MESH via Orphanet34 D014314
ICD10 via Orphanet26 Q97.0
UMLS via Orphanet61 C0221033

Related Diseases for Triple X Syndrome

About this section

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



Diseases related to triple x syndrome

Symptoms for Triple X Syndrome

About this section

Symptoms:

 47 (show all 18)
  • total/partial trisomy/duplication
  • epicanthic folds
  • clinodactyly of fifth finger
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • tall stature/gigantism/growth acceleration
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • pectus excavatum
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • precocious menopause/secondary amenorrhea
  • tremor
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperactivity/attention deficit
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Triple X Syndrome:

(show all 17)
id Description Frequency HPO Source Accession
1 abnormality of chromosome segregation hallmark (90%) HP:0002916
2 tall stature typical (50%) HP:0000098
3 epicanthus typical (50%) HP:0000286
4 muscular hypotonia typical (50%) HP:0001252
5 clinodactyly of the 5th finger typical (50%) HP:0004209
6 cognitive impairment typical (50%) HP:0100543
7 multicystic kidney dysplasia occasional (7.5%) HP:0000003
8 hypertelorism occasional (7.5%) HP:0000316
9 upslanted palpebral fissure occasional (7.5%) HP:0000582
10 pectus excavatum occasional (7.5%) HP:0000767
11 secondary amenorrhea occasional (7.5%) HP:0000869
12 seizures occasional (7.5%) HP:0001250
13 tremor occasional (7.5%) HP:0001337
14 joint hypermobility occasional (7.5%) HP:0001382
15 abnormality of the hip bone occasional (7.5%) HP:0003272
16 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
17 renal hypoplasia/aplasia occasional (7.5%) HP:0008678

Drugs & Therapeutics for Triple X Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Triple X Syndrome

Search NIH Clinical Center for Triple X Syndrome

Genetic Tests for Triple X Syndrome

About this section

Genetic tests related to Triple X Syndrome:

id Genetic test Affiliating Genes
1 Trisomy X Syndrome22

Anatomical Context for Triple X Syndrome

About this section

MalaCards organs/tissues related to Triple X Syndrome:

31
Kidney, Eye, Bone, Thyroid, Ovary

Animal Models for Triple X Syndrome or affiliated genes

About this section

Publications for Triple X Syndrome

About this section

Articles related to Triple X Syndrome:

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

Variations for Triple X Syndrome

About this section

Expression for genes affiliated with Triple X Syndrome

About this section
Search GEO for disease gene expression data for Triple X Syndrome.

Pathways for genes affiliated with Triple X Syndrome

About this section

Compounds for genes affiliated with Triple X Syndrome

About this section

GO Terms for genes affiliated with Triple X Syndrome

About this section

Products for genes affiliated with Triple X Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Triple X Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet