Details of Disease | DrugMAP

General Information of Disease (ID: DIS857QZ)

Disease Name	Lymphatic malformation 1
Synonyms	LMPH1A; lymphedema, early-onset; Nonne-Milroy syndrome; hereditary lymphedema caused by mutation in FLT4; FLT4 hereditary lymphedema; lymphedema, hereditary, 1A; early onset lymphedema; congenital primary lymphedema; Nonne-Milroy lymphedema; lymphedema, hereditary, type 1A; hereditary lymphedema type I; Nonnes syndrome; primary congenital lymphedema; congenital hereditary lymphedema; Milroy disease; hereditary lymphedema 1; Nonne-Milroy disease
Definition	Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.
Disease Hierarchy	DIS4D8VL: Lymphatic malformation DIS857QZ: Lymphatic malformation 1
Disease Identifiers	MONDO ID MONDO_0007919 MESH ID D008209 UMLS CUI C1704423 OMIM ID 153100 MedGen ID 309963 Orphanet ID 79452 SNOMED CT ID 399889006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FLT4	TTDCBX5	Limited	Genetic Variation	[1]
VEGFD	TTOM5H4	moderate	Altered Expression	[2]
FOXC2	TTLBAP1	Strong	Genetic Variation	[3]
GJC2	TTPOCAL	Strong	GermlineCausalMutation	[4]
KIF11	TTBGTCW	Strong	Genetic Variation	[5]
VEGFC	TT0QUFV	Strong	Genetic Variation	[6]
FLT4	TTDCBX5	Definitive	Autosomal dominant	[7]
LYVE1	TTG8DNU	Definitive	Genetic Variation	[8]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATA2	OTBP2QQ2	Limited	Genetic Variation	[9]
SOX18	OTPUMHWA	moderate	Genetic Variation	[10]
CELSR1	OT7PS8O1	Strong	Biomarker	[11]
CDC42EP1	OTT525WA	Definitive	Genetic Variation	[12]
CNTRL	OTQI3VBA	Definitive	Genetic Variation	[12]
FLT4	OTRAA26B	Definitive	Autosomal dominant	[7]
LIM2	OTK7R6HC	Definitive	Biomarker	[13]
MAFB	OTH2N3T8	Definitive	Biomarker	[14]
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⏷ Show the Full List of 8 DOT(s)

References

1	Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities.Front Genet. 2019 Mar 19;10:206. doi: 10.3389/fgene.2019.00206. eCollection 2019.
2	Serum level of VEGF-D in patients with primary lymphedema.Lymphology. 2004 Dec;37(4):185-9.
3	FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.Oncotarget. 2016 Aug 23;7(34):54228-54239. doi: 10.18632/oncotarget.9797.
4	Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.
5	Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26.
6	A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.J Med Genet. 2014 Jul;51(7):475-8. doi: 10.1136/jmedgenet-2013-102020. Epub 2014 Apr 17.
7	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.
8	A LYVE-1/CRSBP-1 Mutation in Inherited Primary Lymphedema.Lymphology. 2017;50(1):9-15.
9	GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.Hematology. 2017 Sep;22(8):467-471. doi: 10.1080/10245332.2017.1294551. Epub 2017 Mar 8.
10	Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).Eur J Med Genet. 2018 May;61(5):269-272. doi: 10.1016/j.ejmg.2018.01.001. Epub 2018 Jan 4.
11	Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.Am J Med Genet A. 2019 Sep;179(9):1718-1724. doi: 10.1002/ajmg.a.61269. Epub 2019 Jun 18.
12	Molecular cytogenetic aberrations in 21 Chinese patients with plasma cell leukemia.Int J Lab Hematol. 2009 Jun;31(3):338-43. doi: 10.1111/j.1751-553X.2008.01037.x. Epub 2008 Feb 18.
13	Primary plasma cell leukemia: clinical, immunophenotypic, DNA ploidy, and cytogenetic characteristics.Blood. 1999 Feb 1;93(3):1032-7.
14	Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses.Genes Chromosomes Cancer. 2005 Feb;42(2):117-27. doi: 10.1002/gcc.20123.