WTS
MCID: WLS003
MIFTS: 44

Wilson-Turner X-Linked Mental Retardation Syndrome (WTS)

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

Aliases & Classifications for Wilson-Turner X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Wilson-Turner X-Linked Mental Retardation Syndrome:

Name: Wilson-Turner X-Linked Mental Retardation Syndrome 58 76 30 6 74
Wilson-Turner Syndrome 58 12 77 54 60 76 38 13 15 41
Wts 58 12 54 60 76
Mrxs6 58 12 54 76
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 12 54 60
Mental Retardation, X-Linked, with Gynecomastia and Obesity 58 12
Mental Retardation, X-Linked, Syndromic 6 58 12
X-Linked Intellectual Disability - Gynecomastia - Obesity 54
Mental Retardation X-Linked with Gynecomastia and Obesity 76
Mental Retardation, X-Linked, Syndromic 6; Mrxs6 58
Mental Retardation X-Linked Syndromic 6 76

Characteristics:

Orphanet epidemiological data:

60
wilson-turner syndrome
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
wilson-turner x-linked mental retardation syndrome:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:



Summaries for Wilson-Turner X-Linked Mental Retardation Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Wilson-Turner X-Linked Mental Retardation Syndrome, also known as wilson-turner syndrome, is related to wilms tumor 1 and wt limb-blood syndrome. An important gene associated with Wilson-Turner X-Linked Mental Retardation Syndrome is LAS1L (LAS1 Like, Ribosome Biogenesis Factor), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Hippo signaling pathway. Affiliated tissues include eye, and related phenotypes are emotional lability and intellectual disability

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 : 58 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 : 76 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.

Wikipedia : 77 Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental... more...

Related Diseases for Wilson-Turner X-Linked Mental Retardation Syndrome

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 30.1 IGF2 POU6F2 WT1 WT1-AS
2 wt limb-blood syndrome 12.3
3 meacham syndrome 10.3 WT1 WT1-AS
4 hemihyperplasia, isolated 10.3 IGF2 WT1
5 hereditary wilms' tumor 10.3 IGF2 WT1
6 wilms tumor 5 10.3
7 gastrointestinal stromal tumor 10.3
8 wilms tumor 6 10.3
9 congenital mesoblastic nephroma 10.3 IGF2 WT1
10 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.2 IGF2 WT1 WT1-AS
11 spinal meningioma 10.2 GFER IGF2
12 leukemia 10.2
13 spinal canal and spinal cord meningioma 10.1 GFER IGF2
14 beckwith-wiedemann syndrome 10.1 IGF2 MRPL23 WT1
15 colorectal cancer 10.1
16 intraocular pressure quantitative trait locus 10.1
17 nodular lymphocyte predominant hodgkin lymphoma 10.1
18 iris disease 10.0 IGF2 WT1
19 breast cancer 10.0
20 polycythemia vera 10.0
21 leukemia, acute myeloid 10.0
22 ileitis 10.0
23 melanoma 10.0
24 myeloid leukemia 10.0
25 amyloidosis 10.0
26 desmoplastic small round cell tumor 10.0
27 melanoma, uveal 9.8
28 ulnar hypoplasia 9.8
29 lung cancer 9.8
30 fanconi anemia, complementation group a 9.8
31 squamous cell carcinoma, head and neck 9.8
32 alzheimer disease 5 9.8
33 coronary heart disease 1 9.8
34 leukemia, acute lymphoblastic 9.8
35 acute lymphoblastic leukemia, childhood 9.8
36 acute lymphocytic leukemia 9.8
37 b-cell lymphomas 9.8
38 crohn's disease 9.8
39 diabetes mellitus 9.8
40 pemphigus foliaceus 9.8
41 angiostrongyliasis 9.8
42 scoliosis 9.8
43 castleman disease 9.8
44 lymphocytic leukemia 9.8
45 epidural abscess 9.8
46 heart disease 9.8
47 gestational diabetes 9.8
48 gastroparesis 9.8
49 von willebrand's disease 9.8
50 candidiasis 9.8

Graphical network of the top 20 diseases related to Wilson-Turner X-Linked Mental Retardation Syndrome:



Diseases related to Wilson-Turner X-Linked Mental Retardation Syndrome

Symptoms & Phenotypes for Wilson-Turner X-Linked Mental Retardation Syndrome

Human phenotypes related to Wilson-Turner X-Linked Mental Retardation Syndrome:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 60 33 hallmark (90%) Very frequent (99-80%) HP:0000712
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 prominent supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0000336
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
6 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
7 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
8 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
9 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
10 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
11 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
12 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
13 pes cavus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001761
14 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
15 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
16 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
17 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
18 gynecomastia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000771
19 tapered finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0001182
20 truncal obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001956
21 malar prominence 60 33 hallmark (90%) Very frequent (99-80%) HP:0010620
22 poor speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0002465
23 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
24 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
25 specific learning disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001328
26 obesity 33 HP:0001513
27 muscular hypotonia 33 HP:0001252
28 kyphosis 33 HP:0002808
29 cataract 60 Excluded (0%)
30 microcephaly 33 HP:0000252
31 delayed puberty 33 HP:0000823
32 decreased muscle mass 33 HP:0003199
33 brachycephaly 33 HP:0000248
34 retrognathia 33 HP:0000278
35 absent speech 33 HP:0001344
36 hypogonadism 33 HP:0000135
37 decreased testicular size 33 HP:0008734
38 micropenis 33 HP:0000054
39 misalignment of teeth 33 HP:0000692
40 hypermetropia 60 Excluded (0%)
41 uplifted earlobe 60 Excluded (0%)
42 short ear 33 HP:0400005

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes planus
pes cavus
small feet

Genitourinary External Genitalia Male:
hypogonadism

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

Head And Neck Eyes:
heavy eyebrows

Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Weight:
truncal obesity

Skeletal Hands:
tapering fingers

Clinical features from OMIM:

309585

GenomeRNAi Phenotypes related to Wilson-Turner X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

27
# 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

Drugs & Therapeutics for Wilson-Turner X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Wilson-Turner X-Linked Mental Retardation Syndrome

Genetic Tests for Wilson-Turner X-Linked Mental Retardation Syndrome

Genetic tests related to Wilson-Turner X-Linked Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Wilson-Turner X-Linked Mental Retardation Syndrome 30 LAS1L

Anatomical Context for Wilson-Turner X-Linked Mental Retardation Syndrome

MalaCards organs/tissues related to Wilson-Turner X-Linked Mental Retardation Syndrome:

42
Eye

Publications for Wilson-Turner X-Linked Mental Retardation Syndrome

Articles related to Wilson-Turner X-Linked Mental Retardation Syndrome:

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

Variations for Wilson-Turner X-Linked Mental Retardation Syndrome

ClinVar genetic disease variations for Wilson-Turner X-Linked Mental Retardation Syndrome:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAS1L LAS1L, ALA269GLY single nucleotide variant Pathogenic
2 LAS1L LAS1L, ARG415TRP single nucleotide variant Pathogenic
3 LAS1L NM_031206.4(LAS1L): c.1735G> A (p.Val579Ile) single nucleotide variant Uncertain significance rs200862250 GRCh38 Chromosome X, 65518179: 65518179
4 LAS1L NM_031206.4(LAS1L): c.1735G> A (p.Val579Ile) single nucleotide variant Uncertain significance rs200862250 GRCh37 Chromosome X, 64738059: 64738059
5 LAS1L NM_031206.4(LAS1L): c.99G> C (p.Ser33=) single nucleotide variant Likely benign rs779407196 GRCh38 Chromosome X, 65534617: 65534617
6 LAS1L NM_031206.4(LAS1L): c.99G> C (p.Ser33=) single nucleotide variant Likely benign rs779407196 GRCh37 Chromosome X, 64754497: 64754497
7 LAS1L NM_031206.4(LAS1L): c.2050C> T (p.Arg684Trp) single nucleotide variant Uncertain significance rs762602796 GRCh37 Chromosome X, 64734731: 64734731
8 LAS1L NM_031206.4(LAS1L): c.2050C> T (p.Arg684Trp) single nucleotide variant Uncertain significance rs762602796 GRCh38 Chromosome X, 65514851: 65514851
9 LAS1L NM_031206.4(LAS1L): c.381A> G (p.Ser127=) single nucleotide variant Likely benign rs992864125 GRCh37 Chromosome X, 64752492: 64752492
10 LAS1L NM_031206.4(LAS1L): c.381A> G (p.Ser127=) single nucleotide variant Likely benign rs992864125 GRCh38 Chromosome X, 65532612: 65532612
11 LAS1L NM_031206.4(LAS1L): c.1892G> C (p.Gly631Ala) single nucleotide variant Uncertain significance rs371394378 GRCh37 Chromosome X, 64737902: 64737902
12 LAS1L NM_031206.4(LAS1L): c.1892G> C (p.Gly631Ala) single nucleotide variant Uncertain significance rs371394378 GRCh38 Chromosome X, 65518022: 65518022
13 LAS1L NM_031206.4(LAS1L): c.1371C> T (p.Ser457=) single nucleotide variant Likely benign rs761061736 GRCh37 Chromosome X, 64743517: 64743517
14 LAS1L NM_031206.4(LAS1L): c.1371C> T (p.Ser457=) single nucleotide variant Likely benign rs761061736 GRCh38 Chromosome X, 65523637: 65523637
15 LAS1L NM_031206.4(LAS1L): c.1082C> G (p.Pro361Arg) single nucleotide variant Uncertain significance rs867562406 GRCh37 Chromosome X, 64744455: 64744455
16 LAS1L NM_031206.4(LAS1L): c.1082C> G (p.Pro361Arg) single nucleotide variant Uncertain significance rs867562406 GRCh38 Chromosome X, 65524575: 65524575
17 LAS1L NM_031206.4(LAS1L): c.1791_1793delTGA (p.Asp597del) deletion Benign rs750470319 GRCh38 Chromosome X, 65518121: 65518123
18 LAS1L NM_031206.4(LAS1L): c.1791_1793delTGA (p.Asp597del) deletion Benign rs750470319 GRCh37 Chromosome X, 64738001: 64738003
19 LAS1L NM_031206.4(LAS1L): c.940G> A (p.Val314Ile) single nucleotide variant Uncertain significance rs137948118 GRCh38 Chromosome X, 65528276: 65528276
20 LAS1L NM_031206.4(LAS1L): c.940G> A (p.Val314Ile) single nucleotide variant Uncertain significance rs137948118 GRCh37 Chromosome X, 64748156: 64748156
21 LAS1L NM_031206.4(LAS1L): c.159G> A (p.Gln53=) single nucleotide variant Likely benign rs144560954 GRCh38 Chromosome X, 65534557: 65534557
22 LAS1L NM_031206.4(LAS1L): c.159G> A (p.Gln53=) single nucleotide variant Likely benign rs144560954 GRCh37 Chromosome X, 64754437: 64754437
23 LAS1L NM_031206.4(LAS1L): c.1691T> C (p.Val564Ala) single nucleotide variant Likely benign rs148989578 GRCh38 Chromosome X, 65518223: 65518223
24 LAS1L NM_031206.4(LAS1L): c.1691T> C (p.Val564Ala) single nucleotide variant Likely benign rs148989578 GRCh37 Chromosome X, 64738103: 64738103
25 LAS1L NM_031206.4(LAS1L): c.1472G> A (p.Gly491Asp) single nucleotide variant Uncertain significance rs1556301877 GRCh38 Chromosome X, 65518442: 65518442
26 LAS1L NM_031206.4(LAS1L): c.1472G> A (p.Gly491Asp) single nucleotide variant Uncertain significance rs1556301877 GRCh37 Chromosome X, 64738322: 64738322
27 LAS1L NM_031206.4(LAS1L): c.747C> T (p.Ser249=) single nucleotide variant Likely benign rs745356580 GRCh38 Chromosome X, 65529646: 65529646
28 LAS1L NM_031206.4(LAS1L): c.747C> T (p.Ser249=) single nucleotide variant Likely benign rs745356580 GRCh37 Chromosome X, 64749526: 64749526
29 LAS1L NM_031206.4(LAS1L): c.502G> A (p.Asp168Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 65531369: 65531369
30 LAS1L NM_031206.4(LAS1L): c.502G> A (p.Asp168Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 64751249: 64751249
31 LAS1L NM_031206.4(LAS1L): c.1203G> T (p.Arg401Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 65524153: 65524153
32 LAS1L NM_031206.4(LAS1L): c.1203G> T (p.Arg401Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 64744033: 64744033
33 LAS1L NM_031206.4(LAS1L): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 65528279: 65528279
34 LAS1L NM_031206.4(LAS1L): c.937G> A (p.Gly313Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 64748159: 64748159
35 LAS1L NM_031206.4(LAS1L): c.715G> T (p.Asp239Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 65529678: 65529678
36 LAS1L NM_031206.4(LAS1L): c.715G> T (p.Asp239Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 64749558: 64749558

Expression for Wilson-Turner X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Wilson-Turner X-Linked Mental Retardation Syndrome.

Pathways for Wilson-Turner X-Linked Mental Retardation Syndrome

Pathways related to Wilson-Turner X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.82 AMER1 LATS1 SAV1 YAP1
2 11.69 LATS1 SAV1 YAP1
3 10.91 HIST1H2AH HIST1H2AI HIST2H2AA3
4 10.59 LATS1 SAV1 YAP1
5 10.12 LATS1 SAV1 YAP1

GO Terms for Wilson-Turner X-Linked Mental Retardation Syndrome

Cellular components related to Wilson-Turner X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleosome GO:0000786 8.8 HIST1H2AH HIST1H2AI HIST2H2AA3

Biological processes related to Wilson-Turner X-Linked Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.62 HDAC8 HIST1H2AH HIST1H2AI HIST2H2AA3
2 keratinocyte differentiation GO:0030216 9.43 LATS1 SAV1 YAP1
3 regulation of organ growth GO:0046620 9.16 LATS1 SAV1
4 lung epithelial cell differentiation GO:0060487 8.96 SAV1 YAP1
5 hippo signaling GO:0035329 8.8 LATS1 SAV1 YAP1

Sources for Wilson-Turner X-Linked Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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