Neuropathy, Hereditary, with Liability to Pressure Palsies (HNPP)

Alias:

Tomaculous Neuropathy

Hereditary Neuropathy with Liability to Pressure Palsies

Hnpp

Current Pressure-Sensitive Neuropathy

Heterozygous Microdeletion 17p11.2p12

Tulip-Bulb Digger's Palsy

Potato-Grubbing Palsy

Neuropathy, Recurrent, with Pressure Palsies

Hereditary Liability to Pressure Palsies

Familial Recurrent Polyneuropathy

Entrapment Neuropathies

Neuropathy Hereditary with Liability to Pressure Palsies

Neuropathy, Hereditary, with Liability Pressure Palsies

Hereditary Motor and Sensory Neuropathies

Hereditary Pressure Sensitive Neuropathy

Hereditary Motor and Sensory Neuropathy

Familial Pressure Sensitive Neuropathy

Inherited Tendency to Pressure Palsies

Polyneuropathy, Familial Recurrent

Nerve Compression Syndrome

Compression Neuropathy

Entrapment Neuropathy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary, with Liability to Pressure Palsies, also known as tomaculous neuropathy, is related to charcot-marie-tooth disease, axonal, type 2a1 and charcot-marie-tooth disease type 1g, and has symptoms including neuralgia An important gene associated with Neuropathy, Hereditary, with Liability to Pressure Palsies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Intracellular trafficking proteins involved in CMT neuropathy and EGR2 and SOX10-mediated initiation of Schwann cell myelination. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are peripheral neuropathy and decreased motor nerve conduction velocity

Related ID：

MALACARDS：NRP051

OMIM：162500

MESH：C536965