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

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Aliases & Descriptions for Wilson-Turner Syndrome:

Name: Wilson-Turner Syndrome 51 11 47 24 53 69 12
Wts 11 47 24 53 69
Wilson-Turner X-Linked Mental Retardation Syndrome 51 69 26 67
Mrxs6 11 47 24 69
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome 11 47 53
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 69
X-Linked Intellectual Disability - Gynecomastia - Obesity 47
Mental Retardation Gynecomastia Obesity X-Linked 47
Mental Retardation X-Linked Syndromic 6 69

Characteristics:

Orphanet epidemiological data:

53
wilson-turner syndrome:
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63

Classifications:



External Ids:

OMIM51 309585
Disease Ontology11 DOID:0060814
Orphanet53 ORPHA3459
MedGen36 C1839736
MeSH38 D038901

Summaries for Wilson-Turner Syndrome

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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:69 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:51 WTS is an X-linked neurologic disorder characterized by severe intellectual disability, dysmorphic facial features,... (309585) more...

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 syndrome11.9
2mental retardation, x-linked, syndromic, wilson-turner type11.1
3turner syndrome9.8
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

Human phenotypes related to Wilson-Turner Syndrome:

 63 (show all 54)
id Description HPO Frequency HPO Source Accession
1 obesity63 hallmark (90%) HP:0001513
2 gynecomastia63 typical (50%) HP:0000771
3 neurological speech impairment63 typical (50%) HP:0002167
4 cryptorchidism63 occasional (7.5%) HP:0000028
5 narrow mouth63 occasional (7.5%) HP:0000160
6 everted lower lip vermilion63 occasional (7.5%) HP:0000232
7 coarse facial features63 occasional (7.5%) HP:0000280
8 mandibular prognathia63 occasional (7.5%) HP:0000303
9 pointed chin63 occasional (7.5%) HP:0000307
10 preauricular skin tag63 occasional (7.5%) HP:0000384
11 macrotia63 occasional (7.5%) HP:0000400
12 thick eyebrow63 occasional (7.5%) HP:0000574
13 synophrys63 occasional (7.5%) HP:0000664
14 lymphedema63 occasional (7.5%) HP:0001004
15 striae distensae63 occasional (7.5%) HP:0001065
16 tapered finger63 occasional (7.5%) HP:0001182
17 seizures63 occasional (7.5%) HP:0001250
18 gait disturbance63 occasional (7.5%) HP:0001288
19 arthritis63 occasional (7.5%) HP:0001369
20 umbilical hernia63 occasional (7.5%) HP:0001537
21 abnormality of the voice63 occasional (7.5%) HP:0001608
22 incoordination63 occasional (7.5%) HP:0002311
23 abnormality of calvarial morphology63 occasional (7.5%) HP:0002648
24 scoliosis63 occasional (7.5%) HP:0002650
25 short palm63 occasional (7.5%) HP:0004279
26 hypoplasia of penis63 occasional (7.5%) HP:0008736
27 large earlobe63 occasional (7.5%) HP:0009748
28 reduced number of teeth63 occasional (7.5%) HP:0009804
29 aplasia/hypoplasia of the earlobes63 occasional (7.5%) HP:0009906
30 cognitive impairment63 occasional (7.5%) HP:0100543
31 toxemia of pregnancy63 occasional (7.5%) HP:0100603
32 round ear63 occasional (7.5%) HP:0100830
33 micropenis63 HP:0000054
34 hypogonadism63 HP:0000135
35 brachycephaly63 HP:0000248
36 microcephaly63 HP:0000252
37 retrognathia63 HP:0000278
38 prominent supraorbital ridges63 HP:0000336
39 broad nasal tip63 HP:0000455
40 deeply set eye63 HP:0000490
41 misalignment of teeth63 HP:0000692
42 emotional lability63 HP:0000712
43 delayed speech and language development63 HP:0000750
44 delayed puberty63 HP:0000823
45 intellectual disability63 HP:0001249
46 muscular hypotonia63 HP:0001252
47 short foot63 HP:0001773
48 truncal obesity63 HP:0001956
49 kyphosis63 HP:0002808
50 decreased muscle mass63 HP:0003199
51 short stature63 HP:0004322
52 decreased testicular size63 HP:0008734
53 small hand63 HP:0200055
54 short ear63 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 Syndrome26
2 Wilson-Turner Syndrome24 LAS1L

Anatomical Context for Wilson-Turner Syndrome

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MalaCards organs/tissues related to Wilson-Turner Syndrome:

35
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, ALA269GLYSNVPathogenicChr na, -1: -1
2LAS1LLAS1L, ARG415TRPSNVPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet