MCID: TRN055
MIFTS: 18

Turner Syndrome Due to Structural X Chromosome Anomalies

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Turner Syndrome Due to Structural X Chromosome Anomalies

MalaCards integrated aliases for Turner Syndrome Due to Structural X Chromosome Anomalies:

Name: Turner Syndrome Due to Structural X Chromosome Anomalies 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Turner Syndrome Due to Structural X Chromosome Anomalies

MalaCards based summary : Turner Syndrome Due to Structural X Chromosome Anomalies Affiliated tissues include bone, skin and kidney, and related phenotypes are short neck and osteopenia

Related Diseases for Turner Syndrome Due to Structural X Chromosome Anomalies

Diseases in the Turner Syndrome family:

Pseudo-Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies

Symptoms & Phenotypes for Turner Syndrome Due to Structural X Chromosome Anomalies

Human phenotypes related to Turner Syndrome Due to Structural X Chromosome Anomalies:

58 31 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
7 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
8 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
9 short sternum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000879
10 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
11 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
12 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%) HP:0006709
13 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008209
14 female infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0008222
15 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
16 increased upper to lower segment ratio 58 31 hallmark (90%) Very frequent (99-80%) HP:0012774
17 high urinary gonadotropin level 31 hallmark (90%) HP:0003492
18 abnormal forearm bone morphology 31 hallmark (90%) HP:0040073
19 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
20 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
21 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
22 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
23 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
24 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
25 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
26 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
27 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
28 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
29 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
30 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
31 broad neck 58 31 frequent (33%) Frequent (79-30%) HP:0000475
32 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
33 impaired use of nonverbal behaviors 58 31 frequent (33%) Frequent (79-30%) HP:0000758
34 primary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000786
35 secondary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000869
36 hashimoto thyroiditis 58 31 frequent (33%) Frequent (79-30%) HP:0000872
37 shield chest 58 31 frequent (33%) Frequent (79-30%) HP:0000914
38 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
39 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
40 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
41 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
42 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
43 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
44 dermatoglyphic ridges abnormal 58 31 frequent (33%) Frequent (79-30%) HP:0005689
45 enlargement of the distal femoral epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0006438
46 irregular proximal tibial epiphyses 58 31 frequent (33%) Frequent (79-30%) HP:0006456
47 neck pterygia 58 31 frequent (33%) Frequent (79-30%) HP:0009759
48 short 4th metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010044
49 short 5th metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010047
50 hypermobility of toe joints 58 31 frequent (33%) Frequent (79-30%) HP:0010510

Drugs & Therapeutics for Turner Syndrome Due to Structural X Chromosome Anomalies

Search Clinical Trials , NIH Clinical Center for Turner Syndrome Due to Structural X Chromosome Anomalies

Genetic Tests for Turner Syndrome Due to Structural X Chromosome Anomalies

Anatomical Context for Turner Syndrome Due to Structural X Chromosome Anomalies

MalaCards organs/tissues related to Turner Syndrome Due to Structural X Chromosome Anomalies:

40
Bone, Skin, Kidney, Thyroid, Eye, Heart, Liver

Publications for Turner Syndrome Due to Structural X Chromosome Anomalies

Variations for Turner Syndrome Due to Structural X Chromosome Anomalies

Expression for Turner Syndrome Due to Structural X Chromosome Anomalies

Search GEO for disease gene expression data for Turner Syndrome Due to Structural X Chromosome Anomalies.

Pathways for Turner Syndrome Due to Structural X Chromosome Anomalies

GO Terms for Turner Syndrome Due to Structural X Chromosome Anomalies

Sources for Turner Syndrome Due to Structural X Chromosome Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....