MCID: TRP009
MIFTS: 38

Triple X Syndrome malady

Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Triple X Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: 1/8/2011

MalaCards: Triple X Syndrome, also known as trisomy x, is related to premature ovarian failure and ovarian disease, and has symptoms including clinodactyly of fifth finger, multicystic kidney/renal dysplasia and agenesis/hypoplasia/aplasia of kidneys. An important gene associated with Triple X Syndrome is SHOX (short stature homeobox). Affiliated tissues include kidney, eye and thyroid.

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

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63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 22GTR, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Reproductive diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
trisomy x:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

triple x syndrome 63 42 21 48
trisomy x 63 42 22 21 48
triplo x syndrome 63 42 21
xxx syndrome 63 21 48
47,xxx 63 21 48
triple-x chromosome syndrome 42
trisomy x syndrome 60
triplo-x syndrome 48
47 xxx syndrome 42
triple-x female 42


External Ids:

MESH via Orphanet35 D014314
ICD10 via Orphanet26 Q97.0
SNOMED-CT via Orphanet57 35111009
UMLS via Orphanet61 C0221033

Related Diseases for Triple X Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Triple X Syndrome:



Diseases related to triple x syndrome

Clinical Features for Triple X Syndrome

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Triple X Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Triple X Syndrome

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22GTR
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Genetic tests related to Triple X Syndrome:

id Genetic test Affiliating Genes
1 Trisomy X Syndrome22

Anatomical Context for Triple X Syndrome

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32MalaCards
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MalaCards organs/tissues related to Triple X Syndrome:

32
Kidney, Eye, Thyroid, Ovary

Animal Models for Triple X Syndrome or affiliated genes

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Publications for Triple X Syndrome

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50PubMed
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Articles related to Triple X Syndrome:

(show all 33)
idTitleAuthorsYear
1
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. (24117978)
2013
2
Triple X syndrome. (22755288)
2012
3
The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases. (22582855)
2012
4
Mosaic triple X syndrome in a female with primary amenorrhea. (23162306)
2012
5
Fetal axillary cystic hygroma: a novel association with triple X syndrome. (23109196)
2012
6
Triple x syndrome with short stature: case report and literature review. (23056899)
2012
7
Autism in association with Triple X syndrome. (22311144)
2012
8
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? (21744492)
2011
9
In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype. (21144508)
2011
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
Marfan syndrome in a Triple-X girl: a new association? (20415197)
2010
14
Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX. (19762167)
2009
15
Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report. (19830242)
2009
16
Triple X syndrome with rare phenotypic presentation. (18759093)
2008
17
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX. (17469201)
2007
18
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. (16408186)
2006
19
Jejunal atresia in an infant with triple-X syndrome. (15590447)
2004
20
Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report. (15641277)
2004
21
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
22
Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. (14556833)
2003
23
Tall stature as presenting symptom in a girl with triple X syndrome. (12713263)
2003
24
Schizencephaly in triple-X syndrome. (11380928)
2001
25
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. (11515731)
2001
26
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. (11007540)
2000
27
Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome. (10484990)
1999
28
Dysgerminoma of the ovary in a patient with triple-X syndrome. (7556861)
1995
29
Triple-X syndrome accompanied by single maxillary central incisor: case report. (8378162)
1993
30
Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. (3346020)
1988
31
Triple-X syndrome and premature ovarian failure. (6410314)
1983
32
Down's syndrome with G-G translocation and triple-x syndrome in the same sibship. (4234142)
1967
33
The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases. (14452136)
1961

Genetic Variations for Triple X Syndrome

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Expression for genes affiliated with Triple X Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Triple X Syndrome

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Pathways for genes affiliated with Triple X Syndrome

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Compounds for genes affiliated with Triple X Syndrome

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GO Terms for genes affiliated with Triple X Syndrome

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Products for genes affiliated with Triple X Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Triple X Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet