Details of Disease

General Information of Disease (ID: DISSK7MJ)

Disease Name Spastic paraparesis-cataracts-speech delay syndrome
Synonyms Fatty acyl-CoA reductase 1 superactivity
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISSK7MJ: Spastic paraparesis-cataracts-speech delay syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAR1 OTLHTYIE Strong Autosomal dominant [1]
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References

1 An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26.