dysautonomia

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dysautonomia

[¦dis¦ȯd·ə¦näm·ē·ə]
(medicine)
Abnormal functioning of the autonomic nervous system.
A congenital syndrome with aberrations in the autonomic nervous system function, including indifference to pain, diminished secretion of tears, poor vasomotor control, motor incoordination, labile cardiovascular reactions, frequent attacks of bronchial pneumonia, and hypersalivation with aspiration and trouble in swallowing. Also known as Riley-Day syndrome.
References in periodicals archive ?
CHEN ET AL/NATURE BIOTECHNOLOGY 2010 Number of Mutated resistant Disease gene people Cystic fibrosis CFTR 3 (lung disease) Smith-Lemli-Opitz DHCR7 2 syndrome (developmental disorder) Familial IKBKAP 1 dysautonomia (neurological disease) Epidermolysis KRT14 1 bullosa simplex (skin condition) Pfeiffer syndrome FGFR1 1 (bone disorder) APECED AIRE 1 (autoimmune disease) Acampomelic SOX9 1 campomelic dysplasia (bone disorder) Atelosteogenesis SLC26A2 3 (bone disorder)
The inherited disease familial dysautonomia arises from a single-nucleotide mutation in a gene called IKBKAP (Ast, 2005).
The affected gene is called IKBKAP When mutated, it encodes a defective version of a protein called IKAP While it's clear that lack of IKAP can cause familial dysautonomia, the normal function of the protein is unknown, Gusella says.