Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Schmerzunempfindlichkeit mit Anhidrose

Die kongenitale Schmerzunempfindlichkeit mit Anhidrose ist eine autosomal dominante Erkrankung für die Mutationen im NTRK1-Gen verantwortlich sind.

Gliederung

Erbliche Nervenerkrankungen
Alzheimer Erkrankung
Autismus
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Hereditäre benigne Chorea
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hypokalämische periodische Paralyse 1
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
Inkludionskörpermyopathie 2
Kongenitale Schmerzunempfindlichkeit mit Anhidrose
NTRK1
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Nonaka-Myopathie
Porenzephalie
Rett-Syndrom
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

Referenzen:

1.

Smeyne RJ et. al. (1994) Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

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2.

Indo Y et. al. (1996) Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

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3.

Shatzky S et. al. (2000) Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

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4.

Hepburn L et. al. (2014) Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus.

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5.

None (1978) Congenital insensitivity and naloxone.

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6.

Lee EL et. al. (1976) Congenital sensory neuropathy with anhidrosis: a case report.

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7.

Ishii N et. al. (1988) Congenital sensory neuropathy with anhidrosis.

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8.

Pinsky L et. al. (1966) Congenital familial sensory neuropathy with anhidrosis.

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9.

Brown JW et. al. (1966) A syndrome of the neural crest.

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10.

Vassella F et. al. (1968) Congenital sensory neuropathy with anhidrosis.

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11.

Wolfe SM et. al. (1970) Absence of taste in type II familial dysautonomia: unresponsiveness to methacholine despite the presence of taste buds.

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12.

Rafel E et. al. () Congenital insensitivity to pain with anhidrosis.

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13.

Langer J et. al. (1981) Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study.

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14.

Matsuo M et. al. (1981) Congenital insensitivity to pain with anhidrosis in a 2-month-old boy.

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15.

Axelrod FB et. al. (1983) Congenital sensory neuropathy with skeletal dysplasia.

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16.

Rosemberg S et. al. (1994) Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)

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17.

Ismail EA et. al. (1998) Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed.

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18.

Yagev R et. al. (1999) Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations.

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19.

Verzé L et. al. (2000) Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV.

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20.

Bonkowsky JL et. al. (2003) An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

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21.

None (1963) Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings.

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22.

SWANSON AG et. al. (1965) ANATOMIC CHANGES IN CONGENITAL INSENSITIVITY TO PAIN. ABSENCE OF SMALL PRIMARY SENSORY NEURONS IN GANGLIA, ROOTS, AND LISSAUER'S TRACT.

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23.

SWANSON AG et. al. (1963) ABSENCE OF LISSAUER'S TRACT AND SMALL DORSAL ROOT AXONS IN FAMILIAL, CONGENITAL, UNIVERSAL INSENSITIVITY TO PAIN.

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24.

Kilic SS et. al. (2009) Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

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