Details of Disease

General Information of Disease (ID: DIS4D8VL)

Disease Name	Lymphatic malformation
Synonyms	hereditary lymphedema; lymphedema, hereditary
Disease Class	LA90: Vascular system developmental anomaly
Definition	Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.
Disease Hierarchy	DISRJKTS: Lymphedema DISYKSRF: Genetic disease DIS0KY9U: Primary lymphedema DISVS67S: Vascular disease DIS4D8VL: Lymphatic malformation
ICD Code	ICD-11 ICD-11: LA90.1
Disease Identifiers	MONDO ID MONDO_0019313 MESH ID D044148 UMLS CUI C0398368 MedGen ID 140763 SNOMED CT ID 234095009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TARA-002	DMRMMAA	Phase 2	Cell therapy	[1]
CERC 006	DMM1NGC	Phase 1	Small molecule	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VEGFC	OTJ1ZMHK	Supportive	Autosomal dominant	[3]
FLT4	OTRAA26B	Supportive	Autosomal dominant	[4]
GJC2	OTLF9WW4	Supportive	Autosomal dominant	[5]
HOXA3	OTIX5XFB	Strong	Biomarker	[7]
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This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FLT4	TTDCBX5	Supportive	Autosomal dominant	[4]
GJC2	TTPOCAL	Supportive	Autosomal dominant	[5]
VEGFC	TT0QUFV	Supportive	Autosomal dominant	[3]
ATIC	TT9NVXQ	Strong	Altered Expression	[6]
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References

1	ClinicalTrials.gov (NCT05871970) A Phase 2a/b Single Arm Open Label Study to Evaluate the Safety and Efficacy of Intracystic Administration of TARA-002 in Participants Between 6 Months to Less Than 18 Years of Age for the Treatment of Macrocystic and Mixed Cystic Lymphatic Malformations. U.S.National Institutes of Health.
2	ClinicalTrials.gov (NCT04994002) A Phase 1b, Open-Label, Pharmacokinetic, Pharmacodynamic, Safety and Tolerability Study of CERC-006 in Adults (Aged 18-31 Years) With Complex Lymphatic Malformations. U.S.National Institutes of Health.
3	Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. Circ Res. 2013 Mar 15;112(6):956-60. doi: 10.1161/CIRCRESAHA.113.300350. Epub 2013 Feb 14.
4	Milroy Disease. 2006 Apr 27 [updated 2021 Feb 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
5	GJC2 missense mutations cause human lymphedema. Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27.
6	Linkage of Metabolic Defects to Activated PIK3CA Alleles in Endothelial Cells Derived from Lymphatic Malformation.Lymphat Res Biol. 2018 Feb;16(1):43-55. doi: 10.1089/lrb.2017.0033. Epub 2018 Jan 18.
7	Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5.Nature. 1991 Apr 11;350(6318):473-9. doi: 10.1038/350473a0.