MCID: TRP009
MIFTS: 41

Triple X Syndrome malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Eye diseases categories
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Summaries for Triple X Syndrome

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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: 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 total/partial trisomy/duplication, epicanthic folds and clinodactyly of fifth finger. 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:65 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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Sources:
65Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 22GTR, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Triple X Syndrome, Aliases & Descriptions:

Name: Triple X Syndrome 65 42 21 48
Trisomy X 65 42 22 21 48
Xxx Syndrome 65 42 21 48
Triplo X Syndrome 65 42 21
47,xxx Syndrome 21 48
47,xxx 65 21
 
Triple-X Chromosome Syndrome 42
Trisomy X Syndrome 62
Triplo-X Syndrome 48
Triple-X Female 42
47 Xxx Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 D014314
ICD10 via Orphanet26 Q97.0
UMLS via Orphanet63 C0221033

Related Diseases for Triple X Syndrome

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



Diseases related to triple x syndrome

Symptoms for Triple X Syndrome

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Symptoms:

48 (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

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Drug clinical trials:

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Genetic Tests for Triple X Syndrome

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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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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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Articles related to Triple X Syndrome:

(show all 29)
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
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX. (17469201)
2007
16
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. (16408186)
2006
17
Jejunal atresia in an infant with triple-X syndrome. (15590447)
2004
18
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
19
Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. (14556833)
2003
20
Tall stature as presenting symptom in a girl with triple X syndrome. (12713263)
2003
21
Schizencephaly in triple-X syndrome. (11380928)
2001
22
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. (11515731)
2001
23
Clinical and molecular features of Ewing sarcoma in a patient with triple-X syndrome. (10484990)
1999
24
Dysgerminoma of the ovary in a patient with triple-X syndrome. (7556861)
1995
25
Triple-X syndrome accompanied by single maxillary central incisor: case report. (8378162)
1993
26
Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. (3346020)
1988
27
Triple-X syndrome and premature ovarian failure. (6410314)
1983
28
Down's syndrome with G-G translocation and triple-x syndrome in the same sibship. (4234142)
1967
29
The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases. (14452136)
1961

Variations for Triple X Syndrome

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Expression for genes affiliated with Triple X Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet