KEGG DISEASE: Hennekam lymphangiectasia-lymphedema syndrome

KEGG

DISEASE: Hennekam lymphangiectasia-lymphedema syndrome

Entry

H02169                      Disease

Name

Hennekam lymphangiectasia-lymphedema syndrome

Description

Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1, an extracellular matrix protein essential for the development of the lymphatic vasculature, have been found responsible for the syndrome. As a second cause for HKLLS, the mutations in FAT4 have been described.

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
    H02169  Hennekam lymphangiectasia-lymphedema syndrome

Pathway

Hippo signaling pathway - multiple species

Gene

(HKLLS1) CCBE1 [HSA:147372] [KO:K19638]
(HKLLS2) FAT4 [HSA:79633] [KO:K16669]
(HKLLS3) ADAMTS3 [HSA:9508] [KO:K08619]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

235510 616006 618154

Reference

PMID:19935664 (CCBE1)

Authors

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC

Title

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Journal

Nat Genet 41:1272-4 (2009)
DOI:10.1038/ng.484

Reference

PMID:24913602 (FAT4)

Authors

Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC

Title

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Journal

Hum Genet 133:1161-7 (2014)
DOI:10.1007/s00439-014-1456-y

Reference

PMID:28985353 (ADAMTS3)

Authors

Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M

Title

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Journal

Hum Mol Genet 26:4095-4104 (2017)
DOI:10.1093/hmg/ddx297

LinkDB

» Japanese version

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