KEGG DISEASE: Lymphedema-distichiasis syndrome

DISEASE: Lymphedema-distichiasis syndrome

Entry

H02167                      Disease

Name

Lymphedema-distichiasis syndrome

Description

Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be caused by mutations in the forkhead transcription factor, FOXC2.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Disorders of lymphatic vessels or lymph nodes
   BD93  Lymphoedema
    H02167  Lymphedema-distichiasis syndrome

Gene

FOXC2 [HSA:2303] [KO:K09396]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:11371511

Authors

Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE

Title

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

Journal

Hum Mol Genet 10:1185-9 (2001)
DOI:10.1093/hmg/10.11.1185

Reference

PMID:18986489

Authors

Vreeburg M, Heitink MV, Damstra RJ, Moog U, van Geel M, van Steensel MA

Title

Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.

Journal

Int J Dermatol 47 Suppl 1:52-5 (2008)
DOI:10.1111/j.1365-4632.2008.03962.x

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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