MCID: WLS003
MIFTS: 44

Wilson-Turner X-Linked Mental Retardation Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Mental diseases, Metabolic 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 57 75 29 6 73
Wilson-Turner Syndrome 57 12 53 59 75 13 15 40
Wts 57 12 53 59 75
Mrxs6 57 12 53 75
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 12 53 59
Mental Retardation, X-Linked, with Gynecomastia and Obesity 57 12
Mental Retardation, X-Linked, Syndromic 6 57 12
X-Linked Intellectual Disability - Gynecomastia - Obesity 53
Mental Retardation X-Linked with Gynecomastia and Obesity 75
Mental Retardation, X-Linked, Syndromic 6; Mrxs6 57
Mental Retardation X-Linked Syndromic 6 75

Characteristics:

Orphanet epidemiological data:

59
wilson-turner syndrome
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
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 : 53 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 5 and wilms tumor 1. 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 : 57 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 : 75 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 : 76 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 all 41)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 5 30.7 IGF2 POU6F2 WT1
2 wilms tumor 1 29.5 AMER1 IGF2 POU6F2 WT1 WT1-AS
3 wt limb-blood syndrome 12.1
4 meacham syndrome 10.7 WT1 WT1-AS
5 hemihyperplasia, isolated 10.7 IGF2 WT1
6 iris disease 10.6 IGF2 WT1
7 congenital mesoblastic nephroma 10.6 IGF2 WT1
8 hereditary wilms' tumor 10.5 IGF2 WT1
9 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.5 IGF2 WT1 WT1-AS
10 spinal meningioma 10.4 GFER IGF2
11 spinal canal and spinal cord meningioma 10.3 GFER IGF2
12 rhabdoid cancer 10.1 IGF2 WT1
13 wilms tumor 6 10.0
14 leukemia 10.0
15 colorectal cancer 9.9
16 beckwith-wiedemann syndrome 9.9 IGF2 MRPL23 TSSC4 WT1
17 breast cancer 9.9
18 leukemia, acute myeloid 9.9
19 melanoma 9.9
20 myeloid leukemia 9.9
21 desmoplastic small round cell tumor 9.9
22 melanoma, uveal 9.7
23 ulnar hypoplasia 9.7
24 lung cancer 9.7
25 fanconi anemia, complementation group a 9.7
26 gastrointestinal stromal tumor 9.7
27 angiostrongyliasis 9.7
28 ileitis 9.7
29 sarcoma 9.7
30 epidural abscess 9.7
31 gastroparesis 9.7
32 von willebrand's disease 9.7
33 dyskeratosis congenita 9.7
34 turner syndrome 9.7
35 myopathy 9.7
36 thyroiditis 9.7
37 sporadic breast cancer 9.7
38 neuronitis 9.7
39 intracranial hypertension 9.7
40 fibromatosis 9.7
41 fryns hofkens fabry syndrome 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Growth Weight:
truncal obesity

Skeletal Hands:
tapering fingers


Clinical features from OMIM:

309585

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

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000712
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
7 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
8 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
9 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
12 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
13 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
14 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
15 pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001761
16 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
17 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
18 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
19 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
20 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
21 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
22 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
23 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
24 malar prominence 59 32 hallmark (90%) Very frequent (99-80%) HP:0010620
25 poor speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002465
26 obesity 32 HP:0001513
27 muscular hypotonia 32 HP:0001252
28 kyphosis 32 HP:0002808
29 cataract 59 Excluded (0%)
30 delayed speech and language development 32 HP:0000750
31 microcephaly 32 HP:0000252
32 delayed puberty 32 HP:0000823
33 decreased muscle mass 32 HP:0003199
34 brachycephaly 32 HP:0000248
35 retrognathia 32 HP:0000278
36 hypogonadism 32 HP:0000135
37 decreased testicular size 32 HP:0008734
38 micropenis 32 HP:0000054
39 misalignment of teeth 32 HP:0000692
40 hypermetropia 59 Excluded (0%)
41 uplifted earlobe 59 Excluded (0%)
42 short ear 32 HP:0400005

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 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 X-Linked Mental Retardation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 AMER1 CDIPT HDAC8 IGF2 LATS1 SAV1
2 growth/size/body region MP:0005378 9.36 AMER1 CDIPT GFER HDAC8 IGF2 LATS1

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

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

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

41
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 28)
# 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 GRCh37 Chromosome X, 64738059: 64738059
4 LAS1L NM_031206.4(LAS1L): c.1735G> A (p.Val579Ile) single nucleotide variant Uncertain significance rs200862250 GRCh38 Chromosome X, 65518179: 65518179
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 GRCh37 Chromosome X, 64738001: 64738003
18 LAS1L NM_031206.4(LAS1L): c.1791_1793delTGA (p.Asp597del) deletion Benign GRCh38 Chromosome X, 65518121: 65518123
19 LAS1L NM_031206.4(LAS1L): c.940G> A (p.Val314Ile) single nucleotide variant Uncertain significance rs137948118 GRCh37 Chromosome X, 64748156: 64748156
20 LAS1L NM_031206.4(LAS1L): c.940G> A (p.Val314Ile) single nucleotide variant Uncertain significance rs137948118 GRCh38 Chromosome X, 65528276: 65528276
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 GRCh37 Chromosome X, 64738103: 64738103
24 LAS1L NM_031206.4(LAS1L): c.1691T> C (p.Val564Ala) single nucleotide variant Likely benign rs148989578 GRCh38 Chromosome X, 65518223: 65518223
25 LAS1L NM_031206.4(LAS1L): c.1472G> A (p.Gly491Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 65518442: 65518442
26 LAS1L NM_031206.4(LAS1L): c.1472G> A (p.Gly491Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 64738322: 64738322
27 LAS1L NM_031206.4(LAS1L): c.747C> T (p.Ser249=) single nucleotide variant Likely benign rs745356580 GRCh37 Chromosome X, 64749526: 64749526
28 LAS1L NM_031206.4(LAS1L): c.747C> T (p.Ser249=) single nucleotide variant Likely benign rs745356580 GRCh38 Chromosome X, 65529646: 65529646

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 11.72 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 X-Linked Mental Retardation Syndrome

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 9.43 LATS1 SAV1 YAP1
2 regulation of organ growth GO:0046620 9.16 LATS1 SAV1
3 lung epithelial cell differentiation GO:0060487 8.96 SAV1 YAP1
4 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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