Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 (HMNR5)

Alias:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Dsma5

Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 5

Neuropathy, Distal Hereditary Motor, Autosomal Recessive 5

Distal Spinal Muscular Atrophy, Autosomal Recessive, 5

Young Adult-Onset Distal Hereditary Motor Neuropathy

Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Dnajb2-Related Cmt2

Hmnr5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5, also known as spinal muscular atrophy, distal, autosomal recessive, 5, is related to distal hereditary motor neuronopathy type 5 and charcot-marie-tooth disease, axonal, type 2e. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 is DNAJB2 (DnaJ Heat Shock Protein Family (Hsp40) Member B2). Affiliated tissues include peripheral nerve, and related phenotypes are gait disturbance and areflexia

Related ID：

MALACARDS：NRN069

OMIM：614881

MESH：D009134