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About: Hydrolethalus syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:WikicatCongenitalDisordersyago:Abnormality114501726yago:Abstraction100002137yago:Anomaly114505821yago:Attribute100024264yago:BirthDefect114465048yago:Condition113920835yago:Defect114464005yago:Disease114070360yago:IllHealth114052046yago:Illness114061805yago:Imperfection114462666yago:PathologicalState114051917yago:PhysicalCondition114034177diseaseyago:State100024720 New Facet based on Instances of this Class

Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and, most commonly, stillbirth. HLS is associated with HYLS1 mutations. The gene encoding HYLS1 is responsible for proper cilial development within the human body. Cilia are microscopic projections that allow sensory input and signalling output within cells, as well as cell motility. Dysfunction results in a range of abnormalities that are often the result of improper cell signalling. A variant form, HLS2, with additional mutations to the KIF7 gene, is less common. KIF7 also ensures correct cilia formation and function, specifically cilia stability and length.