Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis is an autsomal dominant disorder caused by mutations of the NTRK1 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
NTRK1
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

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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25.

OMIM.ORG article

Omim 256800 [^]
26.

Wikipedia article

Wikipedia EN (Congenital_insensitivity_to_pain_with_anhidrosis) [^]
Update: April 29, 2019