Details of Disease

General Information of Disease (ID: DIS3RP1V)

• Disease Name: Autosomal dominant spastic paraplegia type 9
• Synonyms: cataracts, motor neuronopathy, short stature and skeletal abnormalities; autosomal dominant spastic paraparesis; bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy; spastic paraplegia 9; ALDH18A1 autosomal dominant complex spastic paraplegia; spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1; SPG9; cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
• Definition: Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.
• Disease Hierarchy:
  DISUFH0J: P5CS deficiency
  DISISEB5: Autosomal dominant complex spastic paraplegia
  DIS3RP1V: Autosomal dominant spastic paraplegia type 9
• Disease Identifiers:
  MONDO ID: MONDO_0015091
  MESH ID: C536868
  UMLS CUI: C1832669
  MedGen ID: 322007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH18A1	OT6W40XU	Limited	Biomarker	[1]

References

• [1] Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.