Details of Disease

General Information of Disease (ID: DISPABDF)

Disease Name Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Synonyms
telangiectatic membranoproliferative glomerulonephritis; HLTRS; glomerulonephritis with sparse hair and telangiectases; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Disease Hierarchy
DISTB4GU: Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
DIS4D8VL: Lymphatic malformation
DISPABDF: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Disease Identifiers
MONDO ID
MONDO_0019073
UMLS CUI
C4317151
OMIM ID
137940
MedGen ID
1373459
SNOMED CT ID
723363009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SOX18 OTPUMHWA Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.