familial dysautonomia

dysautonomia

[dis″aw-to-no´me-ah] malfunction of the autonomic nervous system.familial dysautonomia Riley-Day syndrome.

fa·mil·i·al dys·au·to·no·mi·a

[MIM*223900] a congenital syndrome with specific disturbances of the nervous system and aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics; autosomal recessive inheritance. Mapped to human chromosome 9q31-q33. Synonym(s): Riley-Day syndrome

familial dysautonomia

An autosomal recessive disorder (OMIM:223900) characterised by failure to thrive and progressive degeneration of sensory, sympathetic and parasympathetic neurons. Affected individuals have decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises and gastrointestinal dysfunction. Most patients are progeny of endogamous Ashkenazi Jews (incidence, 1:3:600 live births).
Molecular pathology
Defects in IKBKAP, which encodes a putative scaffold protein and subunit of the RNA polymerase II elongator complex, cause familial dysautonomia.

familial dysautonomia

Riley-Day syndrome Pediatric neurology An AR condition in Jews, which affects peripheral sensorimotor autonomic and CNS neurons Clinical FTT, episodic vomiting, URIs, autonomic dysfunction–skin blotching, lacrimation, temperature dysregulation, diaphoresis, HTN and postural hypotension, early death

fa·mil·i·al dys·au·to·no·mi·a

(FD) (fă-mil'ē-ăl dis'aw-tō-nō'mē-ă) A congenital syndrome with aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics.

familial dysautonomia

An AUTOSOMAL RECESSIVE neurological disease affecting mainly Ashkenazi Jews and featuring a marked disturbance of the function of the autonomic nervous system. This results in feeding difficulties, excessive sweating, absence of tears, indifference to pain, reduced corneal sensitivity, emotional lability and red blotching of the skin.

Riley,

Conrad Milton, U.S. pediatrician, 1913–. Riley-Day syndrome - a congenital syndrome, with specific disturbances of the nervous system and aberrations in autonomic nervous system function. Synonym(s): familial dysautonomia

fa·mil·i·al dys·au·to·no·mi·a

(fă-mil'ē-ăl dis'aw-tō-nō'mē-ă) [MIM*223900] Congenital syndrome with specific disturbances of nervous system and aberrations in autonomic nervous system function, such as indifference to pain, diminished lacrimation, and poor vasomotor homeostasis.

单词	familial dysautonomia
释义	DictionarySeesyndrome familial dysautonomia familial dysautonomia [fə′mil·yəl ‚dis‚ȯd·ə′nō·mē·ə] (medicine) A hereditary disease transmitted as an autosomal recessive and characterized from infancy by evidence of autonomic nervous system dysfunction, including feeding difficulties, absence of overflow tears, indifference to pain, absent corneal reflexes and deep tendon reflexes, and absence of fungiform papillae on the tongue; most common in Jewish children. familial dysautonomia dysautonomia [dis″aw-to-no´me-ah] malfunction of the autonomic nervous system.familial dysautonomia Riley-Day syndrome. fa·mil·i·al dys·au·to·no·mi·a [MIM223900] a congenital syndrome with specific disturbances of the nervous system and aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics; autosomal recessive inheritance. Mapped to human chromosome 9q31-q33. Synonym(s): Riley-Day syndrome familial dysautonomia An autosomal recessive disorder (OMIM:223900) characterised by failure to thrive and progressive degeneration of sensory, sympathetic and parasympathetic neurons. Affected individuals have decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises and gastrointestinal dysfunction. Most patients are progeny of endogamous Ashkenazi Jews (incidence, 1:3:600 live births). Molecular pathology Defects in IKBKAP, which encodes a putative scaffold protein and subunit of the RNA polymerase II elongator complex, cause familial dysautonomia. familial dysautonomia Riley-Day syndrome Pediatric neurology An AR condition in Jews, which affects peripheral sensorimotor autonomic and CNS neurons Clinical FTT, episodic vomiting, URIs, autonomic dysfunction–skin blotching, lacrimation, temperature dysregulation, diaphoresis, HTN and postural hypotension, early death fa·mil·i·al dys·au·to·no·mi·a (FD)* (fă-mil'ē-ăl dis'aw-tō-nō'mē-ă) A congenital syndrome with aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics. familial dysautonomia An AUTOSOMAL RECESSIVE neurological disease affecting mainly Ashkenazi Jews and featuring a marked disturbance of the function of the autonomic nervous system. This results in feeding difficulties, excessive sweating, absence of tears, indifference to pain, reduced corneal sensitivity, emotional lability and red blotching of the skin. Riley, Conrad Milton, U.S. pediatrician, 1913–. Riley-Day syndrome - a congenital syndrome, with specific disturbances of the nervous system and aberrations in autonomic nervous system function. Synonym(s): familial dysautonomia fa·mil·i·al dys·au·to·no·mi·a (fă-mil'ē-ăl dis'aw-tō-nō'mē-ă) [MIM*223900] Congenital syndrome with specific disturbances of nervous system and aberrations in autonomic nervous system function, such as indifference to pain, diminished lacrimation, and poor vasomotor homeostasis. AcronymsSeefjord
随便看	appia appia, adolphe appian appiani, andrea appian of alexandria appianos appian-plutarch syndrome appian publications and recordings appianus appianus of alexandria appian way appian web personalization report appic appid appie appignani humanist legal center appii appii forum appil appilque appin app indexing appinite appip appiq