Details of Disease

General Information of Disease (ID: DISXXP9R)

• Disease Name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
• Synonyms: generalised lymphatic dysplasia of Fotiou; PIEZO1-related lymphatic-related hydrops fetalis; PIEZO1-related LRHF/GLD; PIEZO1-related generalized lymphatic dysplasia with systemic involvement; generalized lymphatic dysplasia of Fotiou; PIEZO1-related generalised lymphatic dysplasia with systemic involvement
• Definition: A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.
• Disease Hierarchy:
  DIS0KY9U: Primary lymphedema
  DISXXP9R: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

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
PIEZO1	OTBG1FU4	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.