ORPHA:3459
Wilson-Turner syndrome
Synonyms: WTS · X-linked intellectual disability-gynecomastia-obesity syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Childhood
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wilson-Turner syndrome | WTS · X-linked intellectual disability-gynecomastia-obesity syndrome |
| fr | Syndrome de Wilson-Turner | Syndrome de déficience intellectuelle liée à l'X-gynécomastie-obésité · WTS |
| de | Wilson-Turner-Syndrom | WTS · X-chromosomale Intelligenzminderung-Gynäkomastie-Adipositas-Syndrom |
| es | Síndrome de Wilson-Turner | Síndrome de discapacidad intelectual-ginecomastia-obesidad ligado al cromosoma X · WTS |
| it | Sindrome di Wilson-Turner | Sindrome disabilità cognitiva legata all'X-ginecomastia-obesità · WTS |
| nl | Syndroom van Wilson-Turner | WTS · X-gebonden intellectuele achterstand - gynaecomastie - obesitas-syndroom |
| pt | Síndrome Wilson-Turner | Síndrome de perturbação do desenvolvimento intelectual-ginecomastia-obesidade ligada ao X · WTS |
| pl | Zespół Wilsona i Turnera | Niepełnosprawność intelektualna sprzężona z chromosomem X - ginekomastia - otyłość · WTS |
| cs | Wilsonův-Turnerův syndrom | WTS · X-vázaný syndrom zahrnující mentální retardaci, gynekomastii a obezitu · Wilson-Turnerův syndrom |
| uk | Синдром Вільсона-Тернера | WTS · Х-зчеплений синдром інтелектуальної недостатності-гінекомастії-ожиріння |
| zh | Wilson-Turner综合征 | X-连锁智力障碍-男子乳腺发育-肥胖综合征 |
| tr | Wilson-Turner sendromu | WTS · X'e bağlı zihinsel yetersizlik-jinekomasti-obezite sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309585 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD29 | NTBT | index | validated |
| MONDO | 0010665 | E | validated | |
| MeSH | C536708 | E | validated | |
| UMLS | C1839736 | E | validated | |
| GARD | 5579 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HDAC8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13315 | ENSG00000147099 | 300269 | Xq13.1 | histone deacetylase 8 | 22889856[PMID] |
| LAS1L | Disease-causing germline mutation(s) in | Assessed | HGNC:25726 | ENSG00000001497 | 300964 | Xq12 | LAS1 like ribosome biogenesis factor | 25644381[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 1746601[PMID]_22889856[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1746601[PMID]_22889856[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2017-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000455 | Broad nasal tip | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0000712 | Emotional lability | |
| HP:0001263 | Global developmental delay | |
| HP:0000771 | Gynecomastia | |
| HP:0001249 | Intellectual disability | |
| HP:0010620 | Malar prominence | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0001761 | Pes cavus | |
| HP:0001763 | Pes planus | |
| HP:0002465 | Poor speech | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0001182 | Tapered finger | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001956 | Truncal obesity | |
| Frequent (79-30%) | ||
| HP:0000044 | Hypogonadotropic hypogonadism | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| Excluded (0%) | ||
| HP:0000518 | Cataract | |
| HP:0000540 | Hypermetropia | |
| HP:0009909 | Uplifted earlobe | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 1746601[PMID]_758423[PMID]_1481864[PMID]_25644381[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3459
- This record as JSON: /data/d/3459.json