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

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Aliases & Descriptions for Wilson-Turner Syndrome:

Name: Wilson-Turner Syndrome 52 11 48 24 54 70 12 13
Wts 11 48 24 54 70
Wilson-Turner X-Linked Mental Retardation Syndrome 52 70 27 68
Mrxs6 11 48 24 70
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 11 48 54
Mental Retardation, X-Linked, with Gynecomastia and Obesity 11 24
 
Mental Retardation, X-Linked, Syndromic 6 11 24
Mental Retardation X-Linked with Gynecomastia and Obesity 70
X-Linked Intellectual Disability - Gynecomastia - Obesity 48
Mental Retardation Gynecomastia Obesity X-Linked 48
Mental Retardation X-Linked Syndromic 6 70

Characteristics:

Orphanet epidemiological data:

54
wilson-turner syndrome:
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64

Classifications:



External Ids:

OMIM52 309585
Disease Ontology11 DOID:0060814
Orphanet54 ORPHA3459
MedGen37 C1839736
MeSH39 D038901

Summaries for Wilson-Turner Syndrome

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OMIM:52 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 cryptorchidism, micropenis and hypogonadism. An important gene associated with Wilson-Turner Syndrome is HDAC8 (Histone Deacetylase 8), and among its related pathways are Hippo signaling pathway and Hippo signaling pathway -multiple species. Affiliated tissues include eye, and related mouse phenotypes are Decreased sensitivity to paclitaxel and Decreased infection with West Nile virus (WNV).

Disease Ontology:11 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:70 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

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

idRelated DiseaseScoreTop Affiliating Genes
1wt limb-blood syndrome11.9
2mental retardation, x-linked, syndromic, wilson-turner type11.1
3hemorrhagic fever10.2IGF2, WT1
4migraine with or without aura, susceptibility 1310.2HDAC8, LAS1L
5fanconi renotubular syndrome 29.9IGF2, MRPL23, WT1
6turner syndrome9.8
7severe combined immunodeficiency, x-linked8.2AMER1, CDIPT, FIBIN, GFER, HDAC8, HIST1H2AH

Graphical network of diseases related to Wilson-Turner Syndrome:



Diseases related to wilson-turner syndrome

Symptoms & Phenotypes for Wilson-Turner Syndrome

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Symptoms by clinical synopsis from OMIM:

309585

Clinical features from OMIM:

309585

Human phenotypes related to Wilson-Turner Syndrome:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 micropenis64 HP:0000054
3 hypogonadism64 HP:0000135
4 brachycephaly64 HP:0000248
5 microcephaly64 HP:0000252
6 retrognathia64 HP:0000278
7 prominent supraorbital ridges64 HP:0000336
8 broad nasal tip64 HP:0000455
9 deeply set eye64 HP:0000490
10 misalignment of teeth64 HP:0000692
11 emotional lability64 HP:0000712
12 delayed speech and language development64 HP:0000750
13 gynecomastia64 HP:0000771
14 delayed puberty64 HP:0000823
15 tapered finger64 HP:0001182
16 intellectual disability64 HP:0001249
17 muscular hypotonia64 HP:0001252
18 short foot64 HP:0001773
19 truncal obesity64 HP:0001956
20 kyphosis64 HP:0002808
21 decreased muscle mass64 HP:0003199
22 short stature64 HP:0004322
23 decreased testicular size64 HP:0008734
24 small hand64 HP:0200055
25 short ear64 HP:0400005

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00112-A-010.7LATS1, WT1
2GR00348-A-210.1GFER, LAS1L, TESK1, YAP1
3GR00348-A-39.5GFER, LAS1L, TESK1, YAP1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.0AMER1, CDIPT, HDAC8, IGF2, LATS1, SAV1

Drugs & Therapeutics for Wilson-Turner Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wilson-Turner Syndrome

Genetic Tests for Wilson-Turner Syndrome

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Genetic tests related to Wilson-Turner Syndrome:

id Genetic test Affiliating Genes
1 Wilson-Turner X-Linked Mental Retardation Syndrome27
2 Wilson-Turner Syndrome24 LAS1L

Anatomical Context for Wilson-Turner Syndrome

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MalaCards organs/tissues related to Wilson-Turner Syndrome:

36
Eye

Publications for Wilson-Turner Syndrome

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Articles related to Wilson-Turner Syndrome:

idTitleAuthorsYear
1
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585) (8826454)
1996

Variations for Wilson-Turner Syndrome

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Clinvar genetic disease variations for Wilson-Turner Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LAS1LLAS1L, ALA269GLYSNVPathogenic
2LAS1LLAS1L, ARG415TRPSNVPathogenic

Expression for genes affiliated with Wilson-Turner Syndrome

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

Pathways for genes affiliated with Wilson-Turner Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.7LATS1, SAV1, YAP1
29.7LATS1, SAV1, YAP1
39.7LATS1, SAV1, YAP1
49.5AMER1, LATS1, SAV1, YAP1

GO Terms for genes affiliated with Wilson-Turner Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1lung epithelial cell differentiationGO:006048710.4SAV1, YAP1
2regulation of canonical Wnt signaling pathwayGO:006082810.3AMER1, YAP1
3hippo signalingGO:003532910.3LATS1, SAV1, YAP1
4keratinocyte differentiationGO:003021610.2LATS1, SAV1, YAP1
5regulation of organ growthGO:00466209.9LATS1, SAV1

Sources for Wilson-Turner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet