Neuropathy, Hereditary Sensory and Autonomic, Type Iib (HSAN2B)

Alias:

Hsan2b

Neuropathy, Hereditary Sensory and Autonomic, Type 2b

Hereditary Sensory and Autonomic Neuropathy Type Iib

Hereditary Sensory and Autonomic Neuropathy Type 2b

Neuropathy, Sensory and Autonomic, Hereditary, Type Iib

Neuropathy, Hereditary Sensory and Autonomic, 2b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary Sensory and Autonomic, Type Iib, also known as hsan2b, is related to neuropathy, hereditary sensory and autonomic, type iia and autonomic neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iib is RETREG1 (Reticulophagy Regulator 1). Affiliated tissues include peripheral nerve, and related phenotypes are osteolytic defects of the phalanges of the hand and spasticity

Related ID：

MALACARDS：NRP018

OMIM：613115

MESH：D009477