Details of Disease

General Information of Disease (ID: DISL3YW9)

Disease Name Wilson-Turner syndrome
Synonyms
Wilson Turner mental retardation syndrome (formerly); intellectual disability, X-linked, with gynecomastia and obesity (formerly); mental retardation, X-linked, syndromic 6 (formerly); X-linked intellectual disability - gynecomastia - obesity; Wilson-TURNER X-linked intellectual disability syndrome; mental retardation, X-linked, with gynecomastia and obesity (formerly); intellectual disability, X-linked, syndromic 6 (formerly); Wilson Turner intellectual disability syndrome (formerly); Wilson-TURNER X-linked mental retardation syndrome; Wilson-Turner syndrome, X-linked recessive; X-linked intellectual disability-gynecomastia-obesity syndrome; mental retardation, X-linked, with gynecomastia and obesity; intellectual disability, X-linked, with gynecomastia and obesity; mental retardation, X-linked, syndromic 6; MRXS6; WTS; intellectual disability, X-linked, syndromic 6
Definition A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DISL3YW9: Wilson-Turner syndrome
Disease Identifiers
MONDO ID
MONDO_0010665
MESH ID
C536708
UMLS CUI
C1839736
OMIM ID
309585
MedGen ID
333393
Orphanet ID
3459
SNOMED CT ID
719834005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HDAC8 TTT6LFV Supportive X-linked [1]
HDAC8 TTT6LFV Strong GermlineCausalMutation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HDAC8 OT5L4RYX Supportive X-linked [1]
LAS1L OTG4I2A1 Strong X-linked [2]
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References

1 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.
2 Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.