Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 (HMNR1)

Alias:

Spinal Muscular Atrophy with Respiratory Distress 1

Smard1

Severe Infantile Axonal Neuropathy with Respiratory Failure

Hmn Vi

Sianrf

Dsma1

Dhmn6

Hmn6

Neuronopathy, Severe Infantile Axonal, with Respiratory Failure

Severe Infantile Axonal Neuronopathy with Respiratory Failure

Neuropathy, Distal Hereditary Motor, Autosomal Recessive 1

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Neuronopathy, Distal Hereditary Motor, Harding Type Vi

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Distal Hereditary Motor Neuropathy Type Vi

Atrophy, Muscular, Spinal, Distal, Type 1

Neuronopathy, Distal Hereditary Motor, 6

Spinal Muscular Atrophy, Diaphragmatic

Diaphragmatic Spinal Muscular Atrophy

Dhmn Vi

Hmnr1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1, also known as spinal muscular atrophy with respiratory distress 1, is related to distal spinal muscular atrophy 1 and charcot-marie-tooth disease, axonal, type 2e, and has symptoms including constipation and inspiratory stridor. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2). Affiliated tissues include Neural Tube, spinal cord and skeletal muscle, and related phenotypes are neonatal hypotonia and diaphragmatic eventration

Related ID：

MALACARDS：NRN061

OMIM：604320

MESH：D009134