MCID: WLS004
MIFTS: 31

Wilson-Turner Syndrome malady

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

Aliases & Classifications for Wilson-Turner Syndrome

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Aliases & Descriptions for Wilson-Turner Syndrome:

Name: Wilson-Turner Syndrome 50 46 23 52 68 12
Wilson-Turner X-Linked Mental Retardation Syndrome 50 68 25 66
Wts 46 23 52 68
Mrxs6 46 23 68
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 46 52
Mental Retardation, X-Linked, with Gynecomastia and Obesity 46 23
 
Mental Retardation, X-Linked, Syndromic 6 46 23
X-Linked Intellectual Disability - Gynecomastia - Obesity 46
Mental Retardation X-Linked with Gynecomastia and Obesity 68
Mental Retardation Gynecomastia Obesity X-Linked 46
Wilson Turner Mental Retardation Syndrome 46
Mental Retardation X-Linked Syndromic 6 68

Characteristics:

Orphanet epidemiological data:

52
wilson-turner syndrome:
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62


Classifications:



External Ids:

OMIM50 309585
Orphanet52 ORPHA3459
MedGen35 C1839736
MeSH37 D038901

Summaries for Wilson-Turner Syndrome

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OMIM:50 WTS is an X-linked neurologic disorder characterized by severe intellectual disability, dysmorphic facial features,... (309585) more...

MalaCards based summary: Wilson-Turner Syndrome, also known as wilson-turner x-linked mental retardation syndrome, 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:68 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

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

idRelated DiseaseScoreTop Affiliating Genes
1wt limb-blood syndrome12.1
2mental retardation, x-linked, syndromic, wilson-turner type11.2
3turner syndrome10.0
4severe combined immunodeficiency, x-linked9.5HDAC8, LAS1L

Symptoms for Wilson-Turner Syndrome

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Symptoms by clinical synopsis from OMIM:

309585

Clinical features from OMIM:

309585

HPO human phenotypes related to Wilson-Turner Syndrome:

(show all 57)
id Description Frequency HPO Source Accession
1 obesity hallmark (90%) HP:0001513
2 gynecomastia typical (50%) HP:0000771
3 neurological speech impairment typical (50%) HP:0002167
4 cryptorchidism occasional (7.5%) HP:0000028
5 narrow mouth occasional (7.5%) HP:0000160
6 everted lower lip vermilion occasional (7.5%) HP:0000232
7 coarse facial features occasional (7.5%) HP:0000280
8 mandibular prognathia occasional (7.5%) HP:0000303
9 pointed chin occasional (7.5%) HP:0000307
10 preauricular skin tag occasional (7.5%) HP:0000384
11 macrotia occasional (7.5%) HP:0000400
12 thick eyebrow occasional (7.5%) HP:0000574
13 synophrys occasional (7.5%) HP:0000664
14 lymphedema occasional (7.5%) HP:0001004
15 striae distensae occasional (7.5%) HP:0001065
16 tapered finger occasional (7.5%) HP:0001182
17 seizures occasional (7.5%) HP:0001250
18 gait disturbance occasional (7.5%) HP:0001288
19 arthritis occasional (7.5%) HP:0001369
20 umbilical hernia occasional (7.5%) HP:0001537
21 abnormality of the voice occasional (7.5%) HP:0001608
22 incoordination occasional (7.5%) HP:0002311
23 abnormality of calvarial morphology occasional (7.5%) HP:0002648
24 scoliosis occasional (7.5%) HP:0002650
25 short palm occasional (7.5%) HP:0004279
26 hypoplasia of penis occasional (7.5%) HP:0008736
27 large earlobe occasional (7.5%) HP:0009748
28 reduced number of teeth occasional (7.5%) HP:0009804
29 aplasia/hypoplasia of the earlobes occasional (7.5%) HP:0009906
30 cognitive impairment occasional (7.5%) HP:0100543
31 toxemia of pregnancy occasional (7.5%) HP:0100603
32 round ear occasional (7.5%) HP:0100830
33 cryptorchidism HP:0000028
34 micropenis HP:0000054
35 hypogonadism HP:0000135
36 brachycephaly HP:0000248
37 microcephaly HP:0000252
38 retrognathia HP:0000278
39 prominent supraorbital ridges HP:0000336
40 broad nasal tip HP:0000455
41 deeply set eye HP:0000490
42 misalignment of teeth HP:0000692
43 emotional lability HP:0000712
44 delayed speech and language development HP:0000750
45 gynecomastia HP:0000771
46 delayed puberty HP:0000823
47 tapered finger HP:0001182
48 intellectual disability HP:0001249
49 muscular hypotonia HP:0001252
50 short foot HP:0001773
51 truncal obesity HP:0001956
52 kyphosis HP:0002808
53 decreased muscle mass HP:0003199
54 short stature HP:0004322
55 decreased testicular size HP:0008734
56 small hand HP:0200055
57 short ear HP:0400005

Drugs & Therapeutics for Wilson-Turner Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wilson-Turner Syndrome

Genetic Tests for Wilson-Turner Syndrome

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Genetic tests related to Wilson-Turner Syndrome:

id Genetic test Affiliating Genes
1 Wilson-Turner X-Linked Mental Retardation Syndrome25
2 Wilson-Turner Syndrome23 LAS1L

Anatomical Context for Wilson-Turner Syndrome

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MalaCards organs/tissues related to Wilson-Turner Syndrome:

34
Skin, Eye

Animal Models for Wilson-Turner Syndrome or affiliated genes

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Publications for Wilson-Turner Syndrome

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Articles related to Wilson-Turner Syndrome:

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

Variations for Wilson-Turner Syndrome

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Clinvar genetic disease variations for Wilson-Turner Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LAS1LLAS1L, ALA269GLYundetermined variantPathogenic
2LAS1LLAS1L, ARG415TRPundetermined variantPathogenic

Expression for genes affiliated with Wilson-Turner Syndrome

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

Pathways for genes affiliated with Wilson-Turner Syndrome

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GO Terms for genes affiliated with Wilson-Turner Syndrome

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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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet