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GTR Home > Conditions/Phenotypes > Hennekam lymphangiectasia-lymphedema syndrome 1

Hennekam lymphangiectasia-lymphedema syndrome 1

Synonyms
LYMPHATIC DYSPLASIA, GENERALIZED

Summary

Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13. [from OMIM]

Available tests

35 tests are in the database for this condition.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HKLLS1, CCBE1
    Summary: collagen and calcium binding EGF domains 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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