MCID: TRP009
MIFTS: 42

Triple X Syndrome

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

Aliases & Classifications for Triple X Syndrome

MalaCards integrated aliases for Triple X Syndrome:

Name: Triple X Syndrome 74 52 25 58
Xxx Syndrome 52 25 58
Trisomy X 52 25 58
Trisomy X Syndrome 29 71
Triplo X Syndrome 52 25
47,xxx Syndrome 25 58
47,xxx 74 25
Triple-X Chromosome Syndrome 52
Triplo-X Syndrome 58
47 Xxx Syndrome 52
Triple-X Female 52

Characteristics:

Orphanet epidemiological data:

58
trisomy x
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 D014314
ICD10 via Orphanet 33 Q97.0
UMLS via Orphanet 72 C0221033
Orphanet 58 ORPHA3375
UMLS 71 C0221033

Summaries for Triple X Syndrome

NIH Rare Diseases : 52 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 .

MalaCards based summary : Triple X Syndrome, also known as xxx syndrome, is related to premature ovarian failure 1 and numeric sex chromosome variations. An important gene associated with Triple X Syndrome is SHOX (Short Stature Homeobox). The drugs Metformin and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and kidney, and related phenotypes are abnormality of chromosome segregation and global developmental delay

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. Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females.

Wikipedia : 74 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:

(showing 156, show less)
# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 1 11.5
2 numeric sex chromosome variations 11.2
3 chromosome xq duplication 11.1
4 turner syndrome 10.4
5 47,xyy 10.3
6 nondisjunction 10.3
7 48, xxxx 10.3
8 48,xyyy 10.2
9 autoimmune disease 10.2
10 renal hypodysplasia/aplasia 1 10.2
11 chromosomal triplication 10.1
12 systemic lupus erythematosus 10.1
13 rett syndrome 10.1
14 46 xx gonadal dysgenesis 10.1
15 tic disorder 10.1
16 amenorrhea 10.0
17 cat eye syndrome 9.9
18 attention deficit-hyperactivity disorder 9.9
19 otitis media 9.9
20 prader-willi syndrome 9.9
21 sarcoidosis 1 9.9
22 scott syndrome 9.9
23 taurodontism 9.9
24 tooth size 9.9
25 anxiety 9.9
26 ring chromosome 14 syndrome 9.9
27 autism spectrum disorder 9.9
28 cloacal exstrophy 9.9
29 tonsillitis 9.9
30 intestinal atresia 9.9
31 premature menopause 9.9
32 transsexualism 9.9
33 infant gynecomastia 9.9
34 allergic hypersensitivity disease 9.9
35 primary biliary cirrhosis 9.9
36 gender identity disorder 9.9
37 gynecomastia 9.9
38 epilepsy 9.9
39 hypogonadism 9.9
40 focal epilepsy 9.9
41 mood disorder 9.9
42 kallmann syndrome 9.9
43 peritonitis 9.9
44 lupus erythematosus 9.9
45 encephalocele 9.9
46 horseshoe kidney 9.9
47 lower mesodermal defects sequence 9.9
48 mosaic trisomy 8 9.9
49 sternal cleft 9.9
50 urogenital adysplasia 9.9
51 pituitary tumors 9.9
52 seizure disorder 9.9
53 uterine hypoplasia 9.9
54 occipital encephalocele 9.9
55 ring chromosome 9.9
56 renovascular hypertension 9.9
57 neurofibromatosis 9.9
58 rubella 9.9
59 neurofibroma 9.9
60 primary agammaglobulinemia 9.9
61 hypertelorism 9.9
62 heart septal defect 9.9
63 ovarian disease 9.9
64 epulis 9.9
65 congenital epulis 9.9
66 neurofibromatosis, type ii 9.7
67 hair whorl 9.7
68 macroglossia 9.7
69 thrombocytopenic purpura, autoimmune 9.7
70 down syndrome 9.7
71 lipoid congenital adrenal hyperplasia 9.7
72 ataxia-telangiectasia 9.7
73 autism 9.7
74 duodenal atresia 9.7
75 jejunal atresia 9.7
76 schizencephaly 9.7
77 fragile x syndrome 9.7
78 genitourinary tract anomalies 9.7
79 hemophilia a 9.7
80 ataxia and polyneuropathy, adult-onset 9.7
81 aging 9.7
82 exstrophy of bladder 9.7
83 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
84 ewing sarcoma 9.7
85 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.7
86 joint laxity, short stature, and myopia 9.7
87 congenital hypothyroidism 9.7
88 scoliosis 9.7
89 umbilical hernia 9.7
90 bladder exstrophy-epispadias-cloacal exstrophy complex 9.7
91 hypogonadotropic hypogonadism 9.7
92 microcephaly 9.7
93 sarcoma 9.7
94 neonatal diabetes mellitus 9.7
95 myopia 9.7
96 acute leukemia 9.7
97 telangiectasis 9.7
98 gonadal dysgenesis 9.7
99 hypothyroidism 9.7
100 thrombocytopenia 9.7
101 ventricular septal defect 9.7
102 psychotic disorder 9.7
103 cystadenoma 9.7
104 cystic lymphangioma 9.7
105 lipid metabolism disorder 9.7
106 purpura 9.7
107 spindle cell sarcoma 9.7
108 dysgerminoma 9.7
109 infertility 9.7
110 polyhydramnios 9.7
111 learning disability 9.7
112 cleft lip 9.7
113 hemophilia 9.7
114 precocious puberty 9.7
115 central precocious puberty 9.7
116 hypotonia 9.7
117 cleft lip/palate 9.7
118 rare neurodegenerative disease 9.7
119 sex-chromosome anomaly 9.7
120 overgrowth syndrome 9.7
121 blepharophimosis, ptosis, and epicanthus inversus 9.7
122 epicanthus 9.7
123 myositis 9.7
124 retinoblastoma 9.7
125 ovarian dysgenesis 1 9.7
126 lymphoma, hodgkin, classic 9.7
127 pycnodysostosis 9.7
128 severe combined immunodeficiency, x-linked 9.7
129 orofaciodigital syndrome viii 9.7
130 leukemia, acute myeloid 9.7
131 branchiootic syndrome 1 9.7
132 chylothorax, congenital 9.7
133 lymphoma, non-hodgkin, familial 9.7
134 gastric cancer 9.7
135 diffuse large b-cell lymphoma 9.7
136 sexual disorder 9.7
137 lymphoma 9.7
138 ptosis 9.7
139 blepharophimosis 9.7
140 esophageal atresia 9.7
141 clubfoot 9.7
142 leukemia 9.7
143 pure red-cell aplasia 9.7
144 interstitial lung disease 9.7
145 mixed connective tissue disease 9.7
146 pseudohermaphroditism 9.7
147 familial retinoblastoma 9.7
148 severe combined immunodeficiency 9.7
149 connective tissue disease 9.7
150 b-cell lymphoma 9.7
151 lung disease 9.7
152 myeloid leukemia 9.7
153 diabetes mellitus 9.7
154 gastric non-hodgkin lymphoma 9.7
155 raynaud phenomenon 9.7
156 red cell aplasia 9.7

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:

58 31 (showing 22, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
4 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
5 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
6 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
7 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
8 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
9 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
10 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
11 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
12 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
13 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
14 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
15 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
16 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
17 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
18 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
19 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
20 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
21 seizure 31 occasional (7.5%) HP:0001250
22 seizures 58 Occasional (29-5%)

Drugs & Therapeutics for Triple X Syndrome

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

(showing 789, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
4
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
5
Tranexamic Acid Approved Phase 4 1197-18-8 5526
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
8
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
9
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
10
Glimepiride Approved Phase 4 93479-97-1 3476
11
Glyburide Approved Phase 4 10238-21-8 3488
12
Ciclesonide Approved, Investigational Phase 4 141845-82-1, 126544-47-6 444033
13
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
14
Insulin glargine Approved Phase 4 160337-95-1
15
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
16
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
17
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
18
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
19
Lixisenatide Approved Phase 4 320367-13-3
20
Abciximab Approved Phase 4 143653-53-6
21
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
22
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
23
Haloperidol Approved Phase 4 52-86-8 3559
24
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
25
Morphine Approved, Investigational Phase 4 57-27-2 5288826
26
Ribavirin Approved Phase 4 36791-04-5 37542
27
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
28
Nystatin Approved, Vet_approved Phase 4 1400-61-9 11953884
29
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
30
Remifentanil Approved Phase 4 132875-61-7 60815
31
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
32
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
33
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
34
Phenylephrine Approved Phase 4 59-42-7 6041
35
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
36
Adenosine Approved, Investigational Phase 4 58-61-7 60961
37
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
38
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
39
Racepinephrine Approved Phase 4 329-65-7 838
40
Travoprost Approved Phase 4 157283-68-6 5282226
41
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
42
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
43
Brinzolamide Approved Phase 4 138890-62-7 68844
44
Timolol Approved Phase 4 26839-75-8 5478 33624
45
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
46
Norepinephrine Approved Phase 4 51-41-2 439260
47
Pseudoephedrine Approved Phase 4 90-82-4 7028
48
Ephedrine Approved Phase 4 299-42-3 9294
49
Histamine Approved, Investigational Phase 4 51-45-6 774
50
Loratadine Approved, Investigational Phase 4 79794-75-5 3957
51
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
52
Labetalol Approved Phase 4 36894-69-6 3869
53
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
54
Eplerenone Approved Phase 4 107724-20-9 150310 443872
55
Gliclazide Approved Phase 4 21187-98-4 3475
56
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
57
Meperidine Approved Phase 4 57-42-1 4058
58
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
59
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
60
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
61
Sodium citrate Approved, Investigational Phase 4 68-04-2
62
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
63
Testosterone enanthate Approved Phase 4 315-37-7 9416
64
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
65
Methyltestosterone Approved Phase 4 58-18-4 6010
66
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
67
Ixazomib Approved, Investigational Phase 4 1072833-77-2
68
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
69
Dalteparin Approved Phase 4 9005-49-6
70
Clarithromycin Approved Phase 4 81103-11-9 84029
71
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
72
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
73
Clonidine Approved Phase 4 4205-90-7 2803
74
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
75
Metronidazole Approved Phase 4 443-48-1 4173