WTS
MCID: WLS004
MIFTS: 38

Wilson-Turner Syndrome (WTS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Wilson-Turner Syndrome

Aliases & Descriptions for Wilson-Turner Syndrome:

Name: Wilson-Turner Syndrome 54 12 50 24 56 66 13 14
Wts 12 50 24 56 66
Wilson-Turner X-Linked Mental Retardation Syndrome 54 66 29 69
Mrxs6 12 50 24 66
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 12 50 56
Mental Retardation, X-Linked, with Gynecomastia and Obesity 12 24
Mental Retardation, X-Linked, Syndromic 6 12 24
X-Linked Intellectual Disability - Gynecomastia - Obesity 50
Mental Retardation X-Linked with Gynecomastia and Obesity 66
Mental Retardation Gynecomastia Obesity X-Linked 50
Mental Retardation X-Linked Syndromic 6 66

Characteristics:

Orphanet epidemiological data:

56
wilson-turner syndrome
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32

Classifications:



External Ids:

OMIM 54 309585
Disease Ontology 12 DOID:0060814
Orphanet 56 ORPHA3459
MedGen 40 C1839736
MeSH 42 D038901

Summaries for Wilson-Turner Syndrome

OMIM : 54 WTS is an X-linked neurologic disorder characterized by severe intellectual disability, dysmorphic facial features,... (309585) more...

MalaCards based summary : Wilson-Turner Syndrome, also known as wts, is related to wt limb-blood syndrome and mental retardation, x-linked, syndromic, wilson-turner type, and has symptoms including emotional lability, intellectual disability and muscular hypotonia. An important gene associated with Wilson-Turner Syndrome is HDAC8 (Histone Deacetylase 8), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Hippo signaling pathway. Affiliated tissues include eye, and related phenotypes are Decreased infection with West Nile virus (WNV) and Decreased sensitivity to paclitaxel

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has material basis in hemizygous mutation in the LAS1L gene on chromosome Xq12.

UniProtKB/Swiss-Prot : 66 Wilson-Turner X-linked mental retardation syndrome: A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males.

Related Diseases for Wilson-Turner Syndrome

Diseases related to Wilson-Turner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 wt limb-blood syndrome 11.9
2 mental retardation, x-linked, syndromic, wilson-turner type 11.1
3 hemorrhagic fever 10.2 IGF2 WT1
4 migraine with or without aura, susceptibility 13 10.2 HDAC8 LAS1L
5 fanconi renotubular syndrome 2 9.9 IGF2 MRPL23 WT1
6 turner syndrome 9.8
7 severe combined immunodeficiency, x-linked 8.2 AMER1 CDIPT FIBIN GFER HDAC8 HIST1H2AH

Graphical network of the top 20 diseases related to Wilson-Turner Syndrome:



Diseases related to Wilson-Turner Syndrome

Symptoms & Phenotypes for Wilson-Turner Syndrome

Symptoms by clinical synopsis from OMIM:

309585

Clinical features from OMIM:

309585

Human phenotypes related to Wilson-Turner Syndrome:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 emotional lability 32 HP:0000712
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 kyphosis 32 HP:0002808
5 prominent supraorbital ridges 32 HP:0000336
6 delayed speech and language development 32 HP:0000750
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 delayed puberty 32 HP:0000823
10 decreased muscle mass 32 HP:0003199
11 brachycephaly 32 HP:0000248
12 retrognathia 32 HP:0000278
13 short foot 32 HP:0001773
14 cryptorchidism 32 HP:0000028
15 hypogonadism 32 HP:0000135
16 deeply set eye 32 HP:0000490
17 decreased testicular size 32 HP:0008734
18 small hand 32 HP:0200055
19 broad nasal tip 32 HP:0000455
20 gynecomastia 32 HP:0000771
21 tapered finger 32 HP:0001182
22 truncal obesity 32 HP:0001956
23 micropenis 32 HP:0000054
24 misalignment of teeth 32 HP:0000692
25 short ear 32 HP:0400005

GenomeRNAi Phenotypes related to Wilson-Turner Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased infection with West Nile virus (WNV) GR00348-A-2 9.46 GFER LAS1L TESK1 YAP1
2 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 LATS1 WT1
3 Decreased West Nile virus (WNV) infection GR00348-A-3 8.92 GFER LAS1L TESK1 YAP1

MGI Mouse Phenotypes related to Wilson-Turner Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.28 AMER1 CDIPT HDAC8 IGF2 LATS1 SAV1

Drugs & Therapeutics for Wilson-Turner Syndrome

Search Clinical Trials , NIH Clinical Center for Wilson-Turner Syndrome

Genetic Tests for Wilson-Turner Syndrome

Genetic tests related to Wilson-Turner Syndrome:

id Genetic test Affiliating Genes
1 Wilson-Turner X-Linked Mental Retardation Syndrome 29
2 Wilson-Turner Syndrome 24 LAS1L

Anatomical Context for Wilson-Turner Syndrome

MalaCards organs/tissues related to Wilson-Turner Syndrome:

39
Eye

Publications for Wilson-Turner Syndrome

Articles related to Wilson-Turner Syndrome:

id Title Authors Year
1
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585) ( 8826454 )
1996

Variations for Wilson-Turner Syndrome

ClinVar genetic disease variations for Wilson-Turner Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LAS1L LAS1L, ALA269GLY single nucleotide variant Pathogenic
2 LAS1L LAS1L, ARG415TRP single nucleotide variant Pathogenic

Expression for Wilson-Turner Syndrome

Search GEO for disease gene expression data for Wilson-Turner Syndrome.

Pathways for Wilson-Turner Syndrome

Pathways related to Wilson-Turner Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.71 AMER1 LATS1 SAV1 YAP1
2 11.62 LATS1 SAV1 YAP1
3 10.59 LATS1 SAV1 YAP1
4 10.12 LATS1 SAV1 YAP1

GO Terms for Wilson-Turner Syndrome

Biological processes related to Wilson-Turner Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.33 LATS1 SAV1 YAP1
2 regulation of canonical Wnt signaling pathway GO:0060828 9.32 AMER1 YAP1
3 lung epithelial cell differentiation GO:0060487 9.26 SAV1 YAP1
4 regulation of organ growth GO:0046620 8.96 LATS1 SAV1
5 hippo signaling GO:0035329 8.8 LATS1 SAV1 YAP1

Sources for Wilson-Turner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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