hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Term ID

DOID:0111360

Synonyms

• glomerulonephritis with sparse hair and telangiectases
• HLT-renal defect syndrome
• HLTRS
• hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
• telangiectatic membranoproliferative glomerulonephritis

Definition

A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/24697860

References

• OMIM:137940

Ontology

Human Disease   ( DOID:0111360 )