Details of Disease | DrugMAP

General Information of Disease (ID: DISQHJ22)

Disease Name	Hereditary spastic paraplegia 9A
Synonyms	spastic paraplegia 9A, autosomal dominant; spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux; cataracts with motor neuronopathy, short stature, and skeletal abnormalities; spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux; cataracts with motor neuronopathy, short stature and skeletal abnormalities; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; autosomal dominant spastic paraplegia 9A; autosomal dominant complex spastic paraplegia type 9A; hereditary spastic paraplegia type 9A; SPG9A; cataracts motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A
Disease Hierarchy	DIS3RP1V: Autosomal dominant spastic paraplegia type 9 DISQHJ22: Hereditary spastic paraplegia 9A
Disease Identifiers	MONDO ID MONDO_0011006 UMLS CUI C5568978 OMIM ID 601162 MedGen ID 1800401 Orphanet ID 447753 SNOMED CT ID 1187465008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FAR1	OTLHTYIE	Supportive	Autosomal dominant	[1]
ALDH18A1	OT6W40XU	Definitive	Autosomal dominant	[2]
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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.
2	ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21.