Hereditary sensory and autonomic neuropathy type 8

Orpha code: 478664OMIM code: 616488

Definition

A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.

Disease data
Classification

Disease

Synonyms
HSAN8
Dziedziczna neuropatia czuciowa i autonomiczna typu VIII
Dziedziczna neuropatia czuciowa i autonomiczna typu 8
HSAN8
Zespół CIP i hipohydrozy
Hereditary sensory and autonomic neuropathy type VIII
ORPHA code
478664
OMIM code
616488
ICD10 code
G60.8
ICD11 code
-

No additional description.

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