Intellectual developmental disorder, X-linked, syndromic, wilson-turner type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, wilson-turner type;

Symbol : WTS;

CISMeF acronym : MRXS6; WTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 6; MRXS6; Mental retardation, X-linked, with gynecomastia and obesity; Wilson-turner X-linked mental retardation syndrome; MRXSWT;

Description : WTS is an X-linked 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 (summary by Harakalova et al., 2012).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the LAS1-like ribosome biogenesis factor gene (LAS1L. 300964.0001);

Prefixed ID : #309585;

Details

Origin ID

309585;

UMLS CUI

C1839736;

Automatic exact mappings (from CISMeF team)
- HDAC8 wt Allele [NCIt concept]
- LATS1 wt Allele [NCIt concept]
- Wild Type Unspecified Zebrafish [NCIt concept]
- symbol withdrawn WTS [HGNC gene]
Currated CISMeF NLP mapping
- Wilson Turner syndrome (disorder) [SNOMED CT concept]
- Wilson-Turner X-linked mental retardation syndrome [MeSH concept]
- Wilson-Turner X-linked mental retardation syndrome [MeSH Supplementary Concept]
- Wilson-Turner syndrome [DO Concept]
- Wilson-Turner syndrome [ICD-11 More detail]
- Wilson-Turner syndrome [ORDO Disease]
DO Cross reference
- Wilson-Turner syndrome [DO Concept]
Genes related to phenotype
- Las1-like ribosome biogenesis factor [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Emotional lability [HPO term]
- Global developmental delay [HPO term]
- Gynecomastia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Obesity [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Short foot [HPO term]
- Small feet [HPO term]
- Speech difficulties [HPO term]
- Stuttering [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Wilson-Turner syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wilson Turner syndrome (disorder) [SNOMED CT concept]
- Wilson-Turner X-linked mental retardation syndrome [MeSH Supplementary Concept]
- Wilson-Turner X-linked mental retardation syndrome [MeSH concept]
- Wilson-Turner syndrome [ORDO Disease]

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