Details of Disease | DrugMAP

General Information of Disease (ID: DISOMNLC)

Disease Name	Diffuse lymphatic malformation
Synonyms	disseminated lymphangioma; Gla; diffuse lymphangioma; disseminated lymphangiomatosis; generalised lymphatic anomaly; generalized lymphatic anomaly; diffuse lymphangiomatosis; disseminated lymphatic malformation
Definition	A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.
Disease Hierarchy	DISTQZJL: Lymphangioma DISOMNLC: Diffuse lymphatic malformation
Disease Identifiers	MONDO ID MONDO_0015408 UMLS CUI C3839921 MedGen ID 825766 Orphanet ID 141209 SNOMED CT ID 703298001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARAF	TT5TURO	Limited	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARAF	OTZJ0FNO	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.