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Hennekam lymphangiectasia-lymphedema syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.
Uniprot Description A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616006
UMLS:C4014939
MONDO:0014454
High level summary of knowledge for a disease, including descriptions and datasource references.