MCID: WLS004
MIFTS: 40

Wilson-Turner Syndrome

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

Aliases & Classifications for Wilson-Turner Syndrome

MalaCards integrated aliases for Wilson-Turner Syndrome:

Name: Wilson-Turner Syndrome 54 12 50 24 56 71 13 14
Wts 12 50 24 56 71
Mrxs6 12 50 24 71
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 12 50 56
Wilson-Turner X-Linked Mental Retardation Syndrome 71 29 69
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 71
Mental Retardation Gynecomastia Obesity X-Linked 50
Mental Retardation X-Linked Syndromic 6 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Miscellaneous:
two unrelated families have been reported (last curated august 2016)

Inheritance:
x-linked recessive


HPO:

32

Classifications:



Summaries for Wilson-Turner Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3459disease definitionwilson-turner syndrome (wts) is a very rare x-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.epidemiologyprevalence of wts is not known. the syndrome has been described in two families to date: 14 males in the 3 most recent generations of the first family, and 7 males and 7 females in a 5-generation dutch family.clinical descriptionaffected males were described as having severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature (in the second family), small hands and feet, tapering fingers and facial dysmorphism including a small head, short ears, prominent supraorbital ridges, deep-set eyes, high malae, broad nasal tip, thin upper vermillion, and retrognathia. in obligate female carriers in the second family, a milder phenotype including learning disorders and recognizable facial features was reported. the described phenotype overlaps with börjeson-forssman-lehmann syndrome, a form of x-linked intellectual disability. differences between the two described families are small, but there is a possibility that they represent different clinical entities.etiologythe syndrome has been linked to a mutation in the consensus donor splice site of the histonedeacetylase 8 hdac8 gene (xq13).genetic counselingx-linked recessive transmission and x-linked dominant inheritance with absence of male-to-male transmission have been reported.visit the orphanet disease page for more resources. last updated: 7/10/2017

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 short stature, emotional lability and microcephaly. An important gene associated with Wilson-Turner Syndrome is LAS1L (LAS1 Like, Ribosome Biogenesis Factor), and among its related pathways/superpathways are Hippo signaling pathway and Wnt / Hedgehog / Notch. 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.

OMIM : 54
Wilson-Turner syndrome is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991). (309585)

UniProtKB/Swiss-Prot : 71 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

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
delayed psychomotor development
mental retardation
poor or absent speech
seizures (rare)

Genitourinary- Internal Genitalia Male:
cryptorchidism

Genitourinary- External Genitalia Male:
hypogonadism

Skeletal- Hands:
tapering fingers

Head And Neck- Eyes:
heavy eyebrows

Skeletal- Feet:
pes cavus
small feet
pes planus

Growth- Weight:
truncal obesity


Clinical features from OMIM:

309585

Human phenotypes related to Wilson-Turner Syndrome:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 emotional lability 32 HP:0000712
3 microcephaly 32 HP:0000252
4 micropenis 32 HP:0000054
5 kyphosis 32 HP:0002808
6 retrognathia 32 HP:0000278
7 cryptorchidism 32 HP:0000028
8 broad nasal tip 32 HP:0000455
9 intellectual disability 32 HP:0001249
10 delayed puberty 32 HP:0000823
11 brachycephaly 32 HP:0000248
12 hypogonadism 32 HP:0000135
13 muscular hypotonia 32 HP:0001252
14 gynecomastia 32 HP:0000771
15 truncal obesity 32 HP:0001956
16 prominent supraorbital ridges 32 HP:0000336
17 decreased muscle mass 32 HP:0003199
18 decreased testicular size 32 HP:0008734
19 delayed speech and language development 32 HP:0000750
20 small hand 32 HP:0200055
21 short foot 32 HP:0001773
22 deeply set eye 32 HP:0000490
23 tapered finger 32 HP:0001182
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 9.61 HDAC8 IGF2 LATS1 SAV1 SCX WT1
2 growth/size/body region MP:0005378 9.32 AMER1 GFER 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 11.52 LATS1 SAV1 YAP1
2 11.51 AMER1 LATS1 SAV1 YAP1
3 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 regulation of organ growth GO:0046620 8.96 LATS1 SAV1
2 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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