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amyotrophic lateral sclerosis type 4 | RareConnect | RareConnect.io

/familial amyotrophic lateral sclerosis

/amyotrophic lateral sclerosis type 4

amyotrophic lateral sclerosis type 4

Rare Disease

MONDO:0011223

Also Known As

ALS 4ALS4SETX amyotrophic lateral sclerosisamyotrophic lateral sclerosis 4amyotrophic lateral sclerosis 4, juvenileamyotrophic lateral sclerosis caused by mutation in SETXdHMN with upper motor neuron signsdistal hereditary motor neuropathy with pyramidal featuresdistal hereditary motor neuropathy with upper motor neuron signsneuronopathy, distal hereditary motor, with pyramidal features

Definition

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:602433 ↗

Orphanet

Orphanet:357043 ↗

GARD

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