Details of Disease

General Information of Disease (ID: DISTB4GU)

• Disease Name: Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
• Synonyms: hypotrichosis lymphedema telangiectasia syndrome
• Definition: Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS0KY9U: Primary lymphedema
  DISTB4GU: Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX18	OTPUMHWA	Supportive	Autosomal dominant	[1]

References

• [1] Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet. 2015 Apr;87(4):378-82. doi: 10.1111/cge.12388. Epub 2014 Apr 16.