MCID: WLS004
MIFTS: 30

Wilson-Turner Syndrome malady

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

Aliases & Classifications for Wilson-Turner Syndrome

About this section

Aliases & Descriptions for Wilson-Turner Syndrome:

Name: Wilson-Turner Syndrome 52 11 48 24 54 70 12
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

About this section
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 (300964) on chromosome Xq12.

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 obesity, gynecomastia and neurological speech impairment. An important gene associated with Wilson-Turner Syndrome is LAS1L (LAS1 Like, Ribosome Biogenesis Factor). Affiliated tissues include skin and eye.

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.

OMIM:52 WTS is an X-linked neurologic disorder characterized by severe intellectual disability, dysmorphic facial features,... (309585) more...

Related Diseases for Wilson-Turner Syndrome

About this section

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
3turner syndrome9.8
4severe combined immunodeficiency, x-linked9.5HDAC8, LAS1L

Symptoms & Phenotypes for Wilson-Turner Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

309585

Clinical features from OMIM:

309585

Human phenotypes related to Wilson-Turner Syndrome:

 64 (show all 54)
id Description HPO Frequency HPO Source Accession
1 obesity64 hallmark (90%) HP:0001513
2 gynecomastia64 typical (50%) HP:0000771
3 neurological speech impairment64 typical (50%) HP:0002167
4 cryptorchidism64 occasional (7.5%) HP:0000028
5 narrow mouth64 occasional (7.5%) HP:0000160
6 everted lower lip vermilion64 occasional (7.5%) HP:0000232
7 coarse facial features64 occasional (7.5%) HP:0000280
8 mandibular prognathia64 occasional (7.5%) HP:0000303
9 pointed chin64 occasional (7.5%) HP:0000307
10 preauricular skin tag64 occasional (7.5%) HP:0000384
11 macrotia64 occasional (7.5%) HP:0000400
12 thick eyebrow64 occasional (7.5%) HP:0000574
13 synophrys64 occasional (7.5%) HP:0000664
14 lymphedema64 occasional (7.5%) HP:0001004
15 striae distensae64 occasional (7.5%) HP:0001065
16 tapered finger64 occasional (7.5%) HP:0001182
17 seizures64 occasional (7.5%) HP:0001250
18 gait disturbance64 occasional (7.5%) HP:0001288
19 arthritis64 occasional (7.5%) HP:0001369
20 umbilical hernia64 occasional (7.5%) HP:0001537
21 abnormality of the voice64 occasional (7.5%) HP:0001608
22 incoordination64 occasional (7.5%) HP:0002311
23 abnormality of calvarial morphology64 occasional (7.5%) HP:0002648
24 scoliosis64 occasional (7.5%) HP:0002650
25 short palm64 occasional (7.5%) HP:0004279
26 hypoplasia of penis64 occasional (7.5%) HP:0008736
27 large earlobe64 occasional (7.5%) HP:0009748
28 reduced number of teeth64 occasional (7.5%) HP:0009804
29 aplasia/hypoplasia of the earlobes64 occasional (7.5%) HP:0009906
30 cognitive impairment64 occasional (7.5%) HP:0100543
31 toxemia of pregnancy64 occasional (7.5%) HP:0100603
32 round ear64 occasional (7.5%) HP:0100830
33 micropenis64 HP:0000054
34 hypogonadism64 HP:0000135
35 brachycephaly64 HP:0000248
36 microcephaly64 HP:0000252
37 retrognathia64 HP:0000278
38 prominent supraorbital ridges64 HP:0000336
39 broad nasal tip64 HP:0000455
40 deeply set eye64 HP:0000490
41 misalignment of teeth64 HP:0000692
42 emotional lability64 HP:0000712
43 delayed speech and language development64 HP:0000750
44 delayed puberty64 HP:0000823
45 intellectual disability64 HP:0001249
46 muscular hypotonia64 HP:0001252
47 short foot64 HP:0001773
48 truncal obesity64 HP:0001956
49 kyphosis64 HP:0002808
50 decreased muscle mass64 HP:0003199
51 short stature64 HP:0004322
52 decreased testicular size64 HP:0008734
53 small hand64 HP:0200055
54 short ear64 HP:0400005

Drugs & Therapeutics for Wilson-Turner Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wilson-Turner Syndrome

Genetic Tests for Wilson-Turner Syndrome

About this section

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

About this section

MalaCards organs/tissues related to Wilson-Turner Syndrome:

36
Skin, Eye

Publications for Wilson-Turner Syndrome

About this section

Articles related to Wilson-Turner Syndrome:

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

Variations for Wilson-Turner Syndrome

About this section

Clinvar genetic disease variations for Wilson-Turner Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LAS1LLAS1L, ALA269GLYSNVPathogenicChr na, -1: -1
2LAS1LLAS1L, ARG415TRPSNVPathogenicChr na, -1: -1

Expression for genes affiliated with Wilson-Turner Syndrome

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

Pathways for genes affiliated with Wilson-Turner Syndrome

About this section

GO Terms for genes affiliated with Wilson-Turner Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056549.1HDAC8, LAS1L

Sources for Wilson-Turner Syndrome

About this section
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