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Hereditary insensitivity to pain with anhidrosis

Synonyms
FAMILIAL DYSAUTONOMIA, TYPE II; Familial dysautonomia, type 2; HSAN 4; HSAN Type IV; Hereditary Sensory and Autonomic Neuropathy Type IV; Hereditary sensory and autonomic neuropathy 4; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: NTRK1 Congenital Insensitivity to Pain with Anhidrosis
NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of NTRK1-CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Yasuhiro Indo
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Available tests

52 tests are in the database for this condition.

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Clinical tests (52 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MTC, TRK, TRK1, TRKA, Trk-A, p140-TrkA, NTRK1
    Summary: neurotrophic receptor tyrosine kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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