MCID: TTR013
MIFTS: 27

Tetrasomy X

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

Aliases & Classifications for Tetrasomy X

MalaCards integrated aliases for Tetrasomy X:

Name: Tetrasomy X 54 60 74
48,xxxx Syndrome 54 60
Quadruple X 54 60
Tetra X 54 60
48 Xxxx Syndrome 54
48 Xxxx 54

Characteristics:

Orphanet epidemiological data:

60
tetrasomy x
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

MESH via Orphanet 46 C536502
ICD10 via Orphanet 35 Q97.1
UMLS via Orphanet 75 C0265496
Orphanet 60 ORPHA9
UMLS 74 C0265496

Summaries for Tetrasomy X

NIH Rare Diseases : 54 Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.

MalaCards based summary : Tetrasomy X, also known as 48,xxxx syndrome, is related to 48, xxxx and pituitary hormone deficiency, combined, 2. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain and pituitary, and related phenotypes are hypertelorism and muscular hypotonia

Wikipedia : 77 Tetrasomy X (also called XXXX syndrome, quadruple X, or 48,XXXX) is an extremely rare chromosomal... more...

Related Diseases for Tetrasomy X

Diseases related to Tetrasomy X via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 48, xxxx 11.2
2 pituitary hormone deficiency, combined, 2 10.2
3 combined pituitary hormone deficiency 10.2
4 premature ovarian failure 1 10.1
5 systemic lupus erythematosus 9.9
6 lupus erythematosus 9.9
7 hypersomnia 9.9

Graphical network of the top 20 diseases related to Tetrasomy X:



Diseases related to Tetrasomy X

Symptoms & Phenotypes for Tetrasomy X

Human phenotypes related to Tetrasomy X:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
2 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
3 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
4 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
5 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
6 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
7 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
8 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
9 specific learning disability 60 33 frequent (33%) Frequent (79-30%) HP:0001328
10 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
11 radioulnar synostosis 60 33 frequent (33%) Frequent (79-30%) HP:0002974
12 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
13 abnormality of immune system physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0010978
14 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
15 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
16 premature ovarian insufficiency 33 occasional (7.5%) HP:0008209
17 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
18 malformation of the heart and great vessels 60 Occasional (29-5%)
19 precocious menopause 60 Occasional (29-5%)

Drugs & Therapeutics for Tetrasomy X

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 10204 6013
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246
2 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562

Search NIH Clinical Center for Tetrasomy X

Genetic Tests for Tetrasomy X

Anatomical Context for Tetrasomy X

MalaCards organs/tissues related to Tetrasomy X:

42
Brain, Pituitary

Publications for Tetrasomy X

Articles related to Tetrasomy X:

# Title Authors Year
1
A case report of hypersomnia in tetrasomy X improved with medical therapy. ( 29744081 )
2018
2
Tetrasomy X in a Child with Upper Limb Deformity. ( 26061938 )
2015
3
A Sri Lankan child with 48,XXXX syndrome. ( 23494840 )
2014
4
Premature ovarian failure due to tetrasomy X in an adolescent girl. ( 24221609 )
2014
5
Unusual brain changes in tetrasomy x chromosomal anomaly. ( 23275857 )
2012
6
Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure. ( 21654007 )
2011
7
Systemic lupus erythematosus and tetrasomy-X. ( 2600948 )
1989

Variations for Tetrasomy X

Expression for Tetrasomy X

Search GEO for disease gene expression data for Tetrasomy X.

Pathways for Tetrasomy X

GO Terms for Tetrasomy X

Sources for Tetrasomy X

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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