WTS
MCID: WLS003
MIFTS: 49

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 56 73 29 6 71
Wilson-Turner Syndrome 56 12 74 52 58 73 36 29 13 15 39
Wts 56 12 52 58 73
Mrxs6 56 12 52 73
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 12 52 58
Mental Retardation, X-Linked, with Gynecomastia and Obesity 56 12
Mental Retardation, X-Linked, Syndromic 6 56 12
X-Linked Intellectual Disability - Gynecomastia - Obesity 52
Mental Retardation X-Linked with Gynecomastia and Obesity 73
Mental Retardation, X-Linked, Syndromic 6; Mrxs6 56
Mental Retardation X-Linked Syndromic 6 73

Characteristics:

Orphanet epidemiological data:

58
wilson-turner syndrome
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
wilson-turner x-linked mental retardation syndrome:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Wilson-Turner X-Linked Mental Retardation Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3459 Definition Wilson-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 . Epidemiology Prevalence 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 description Affected 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 Borjeson-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. Etiology The syndrome has been linked to a mutation in the consensus donor splice site of the histonedeacetylase 8 HDAC8 gene (Xq13). Genetic counseling X-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 Mesodermal Commitment Pathway and Wnt / Hedgehog / Notch. Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

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 : 56 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)

KEGG : 36 Wilson-Turner syndrome (WTS) is a X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering fingers. WTS is caused by mutations in LAS1L, that plays a role in ribosome biogenesis.

UniProtKB/Swiss-Prot : 73 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 : 74 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 176)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 33.0 WT1 MIR483 H2AC18 AMER1
2 wt limb-blood syndrome 12.6
3 brain meningioma 10.6 YAP1 NF2
4 riddle syndrome 10.6 H2AC18 H2AC13 H2AC12
5 peritoneum cancer 10.6 WT1 NF2 H2AC18
6 hereditary wilms' tumor 10.5 WT1 AMER1
7 disorders of sexual development 10.5 WT1 MIR483 H2AC18
8 pleural cancer 10.5 WT1 NF2 H2AC18
9 peritoneal mesothelioma 10.5 WT1 NF2 LATS2 LATS1
10 ovarian endometrioid stromal sarcoma 10.5 WT1 HDAC8
11 rare tumor 10.5 NF2 LATS2
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5 NF2 MIR483 LGALS4 H2AC18
13 autosomal genetic disease 10.5 NF2 MIR483 LGALS4 H2AC18
14 beckwith-wiedemann syndrome 10.5 WT1 MIR483 H2AC18 AMER1
15 x-linked recessive disease 10.5 SAV1 LATS1 H2AC18
16 meningioma, familial 10.4 TEAD1 NF2 LATS2 H2AC18
17 wilms tumor 5 10.4
18 ovary epithelial cancer 10.4 WT1 MIR483 H2AC18
19 malignant ovarian surface epithelial-stromal neoplasm 10.4 WT1 MIR483 H2AC18
20 skull base meningioma 10.4 WT1 NF2
21 gastrointestinal stromal tumor 10.3
22 spinal cord ependymoma 10.3 YAP1 NF2
23 myeloproliferative syndrome, transient 10.3 YAP1 WWC1 TEAD1 TAOK2 SAV1 NF2
24 chronic atrial and intestinal dysrhythmia 10.2 HDAC8 H2AC18
25 ileitis 10.1
26 47,xyy 10.1
27 neutropenia 10.1
28 leukemia 10.1
29 long qt syndrome 10.1
30 adenocarcinoma 10.1
31 glioblastoma multiforme 10.1
32 clear cell sarcoma 10.1
33 retinal degeneration 10.1
34 myeloid leukemia 10.1
35 crohn's disease 10.1
36 syndromic intellectual disability 10.0 YAP1 WWC1 WT1 TAOK1 SAV1 MOB1A
37 autoimmune disease 10.0
38 bladder cancer 10.0
39 huntington disease 10.0
40 lung cancer 10.0
41 cystic fibrosis 10.0
42 fanconi anemia, complementation group a 10.0
43 hemochromatosis, type 1 10.0
44 leukemia, acute myeloid 10.0
45 leukemia, acute lymphoblastic 10.0
46 exanthem 10.0
47 scoliosis 10.0
48 pancytopenia 10.0
49 acute leukemia 10.0
50 myopathy 10.0

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
4 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
5 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
6 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
7 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
8 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
12 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
13 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
14 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
15 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
16 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
17 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
18 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
19 emotional lability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000712
20 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
21 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
22 malar prominence 58 31 hallmark (90%) Very frequent (99-80%) HP:0010620
23 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
24 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
25 seizure 31 occasional (7.5%) HP:0001250
26 cataract 58 Excluded (0%)
27 muscular hypotonia 31 HP:0001252
28 kyphosis 31 HP:0002808
29 seizures 58 Occasional (29-5%)
30 microcephaly 31 HP:0000252
31 delayed puberty 31 HP:0000823
32 brachycephaly 31 HP:0000248
33 decreased muscle mass 31 HP:0003199
34 absent speech 31 HP:0001344
35 retrognathia 31 HP:0000278
36 obesity 31 HP:0001513
37 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
38 micropenis 31 HP:0000054
39 decreased testicular size 31 HP:0008734
40 misalignment of teeth 31 HP:0000692
41 hypogonadism 31 HP:0000135
42 hypermetropia 58 Excluded (0%)
43 uplifted earlobe 58 Excluded (0%)
44 short ear 31 HP:0400005

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes planus
pes cavus
small feet

Growth Weight:
truncal obesity

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

Genitourinary External Genitalia Male:
hypogonadism

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 LATS1 WT1

MGI Mouse Phenotypes related to Wilson-Turner X-Linked Mental Retardation Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.81 AMER1 HDAC8 LATS2 MOB1A NF2 SAV1
2 liver/biliary system MP:0005370 9.5 LATS1 LATS2 MOB1A NF2 SAV1 WT1
3 neoplasm MP:0002006 9.1 LATS1 MOB1A NF2 SAV1 WT1 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 29 LAS1L
2 Wilson-Turner Syndrome 29

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

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

40
Eye

Publications for Wilson-Turner X-Linked Mental Retardation Syndrome

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

# Title Authors PMID Year
1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 56 6
25644381 2016
2
New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. 6 56
1746601 1991
3
New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. 56
1481864 1992
4
X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome. 56
758423 1979
5
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. 61
22889856 2012
6
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585) 61
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 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAS1L LAS1L, ALA269GLYSNV Pathogenic 253106
2 LAS1L LAS1L, ARG415TRPSNV Pathogenic 253107
3 LAS1L NM_031206.4(LAS1L):c.[1237G>A]SNV Likely pathogenic 666263 X:64743999-64743999 X:65524119-65524119
4 LAS1L NM_031206.4(LAS1L):c.1472G>A (p.Gly491Asp)SNV Uncertain significance 533407 rs1556301877 X:64738322-64738322 X:65518442-65518442
5 LAS1L NM_031206.4(LAS1L):c.502G>A (p.Asp168Asn)SNV Uncertain significance 573910 rs1569443405 X:64751249-64751249 X:65531369-65531369
6 LAS1L NM_031206.4(LAS1L):c.1203G>T (p.Arg401Ser)SNV Uncertain significance 580915 rs1569438242 X:64744033-64744033 X:65524153-65524153
7 LAS1L NM_031206.4(LAS1L):c.937G>A (p.Gly313Ser)SNV Uncertain significance 579081 rs745313876 X:64748159-64748159 X:65528279-65528279
8 LAS1L NM_031206.4(LAS1L):c.715G>T (p.Asp239Tyr)SNV Uncertain significance 577687 rs750436732 X:64749558-64749558 X:65529678-65529678
9 LAS1L NM_031206.4(LAS1L):c.1705A>G (p.Lys569Glu)SNV Uncertain significance 649903 X:64738089-64738089 X:65518209-65518209
10 LAS1L NM_031206.4(LAS1L):c.1114G>C (p.Val372Leu)SNV Uncertain significance 661084 X:64744122-64744122 X:65524242-65524242
11 LAS1L NM_031206.4(LAS1L):c.1735G>A (p.Val579Ile)SNV Uncertain significance 464822 rs200862250 X:64738059-64738059 X:65518179-65518179
12 LAS1L NM_031206.4(LAS1L):c.2050C>T (p.Arg684Trp)SNV Uncertain significance 464824 rs762602796 X:64734731-64734731 X:65514851-65514851
13 LAS1L NM_031206.4(LAS1L):c.1892G>C (p.Gly631Ala)SNV Uncertain significance 464823 rs371394378 X:64737902-64737902 X:65518022-65518022
14 LAS1L NM_031206.4(LAS1L):c.1082C>G (p.Pro361Arg)SNV Uncertain significance 464820 rs867562406 X:64744455-64744455 X:65524575-65524575
15 LAS1L NM_031206.4(LAS1L):c.940G>A (p.Val314Ile)SNV Uncertain significance 533406 rs137948118 X:64748156-64748156 X:65528276-65528276
16 LAS1L NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala)SNV Uncertain significance 864372 X:64738224-64738224 X:65518344-65518344
17 LAS1L NM_031206.4(LAS1L):c.159G>A (p.Gln53=)SNV Likely benign 533409 rs144560954 X:64754437-64754437 X:65534557-65534557
18 LAS1L NM_031206.4(LAS1L):c.1371C>T (p.Ser457=)SNV Likely benign 464821 rs761061736 X:64743517-64743517 X:65523637-65523637
19 LAS1L NM_031206.4(LAS1L):c.381A>G (p.Ser127=)SNV Likely benign 464825 rs992864125 X:64752492-64752492 X:65532612-65532612
20 LAS1L NM_031206.7(LAS1L):c.1788_1790TGA[1] (p.Asp597del)short repeat Benign 533410 rs750470319 X:64738001-64738003 X:65518121-65518123
21 LAS1L NM_031206.6(LAS1L):c.1788_1796TGATGAAGA[1] (p.596_598DDE[1])short repeat Benign 702347 X:64737989-64737997 X:65518109-65518117

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
Show member pathways
12.15 YAP1 WWC1 TEAD1 LATS1
2 12.06 YAP1 WWC1 TEAD1 SAV1 MOB1A LATS1
3 11.8 YAP1 WWC1 TEAD1 SAV1 NF2 MOB1A
4 11.08 H2AC18 H2AC13 H2AC12
5 10.96 YAP1 WWC1 SAV1 MOB1A LATS2 LATS1
6 10.74 YAP1 WWC1 TEAD1 SAV1 NF2 MOB1A

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 cytosol GO:0005829 9.97 YAP1 WWC1 WT1 TAOK2 TAOK1 SAV1
2 nucleus GO:0005634 9.83 YAP1 WWC1 WT1 TEAD1 TAOK2 SAV1
3 nucleosome GO:0000786 9.43 H2AC18 H2AC13 H2AC12
4 TEAD-1-YAP complex GO:0071148 8.62 YAP1 TEAD1

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 keratinocyte differentiation GO:0030216 9.5 YAP1 SAV1 LATS1
2 positive regulation of stress-activated MAPK cascade GO:0032874 9.48 TAOK2 TAOK1
3 mitotic G2 DNA damage checkpoint GO:0007095 9.46 TAOK2 TAOK1
4 negative regulation of hippo signaling GO:0035331 9.43 WWC1 AJUBA
5 chromatin silencing GO:0006342 9.43 H2AC18 H2AC13 H2AC12
6 regulation of stem cell proliferation GO:0072091 9.4 YAP1 NF2
7 lung epithelial cell differentiation GO:0060487 9.37 YAP1 SAV1
8 hippo signaling GO:0035329 9.17 YAP1 WWC1 TEAD1 SAV1 MOB1A LATS2
9 regulation of hippo signaling GO:0035330 9.16 WWC1 NF2
10 regulation of organ growth GO:0046620 9.13 SAV1 LATS2 LATS1

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

# Name GO ID Score Top Affiliating Genes
1 tau-protein kinase activity GO:0050321 8.62 TAOK2 TAOK1

Sources for Wilson-Turner X-Linked Mental Retardation Syndrome

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....