Details of Disease

General Information of Disease (ID: DISS571N)

• Disease Name: Autosomal recessive complex spastic paraplegia type 9B
• Synonyms: hereditary spastic paraplegia 9B; spastic paraplegia 9B, autosomal recessive; hereditary spastic paraplegia type 9B; autosomal recessive spastic paraplegia 9B; ALDH18A1 autosomal recessive complex spastic paraplegia; autosomal recessive complex spastic paraplegia type 9B; AR-SPG9B; SPG9B; autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1
• Definition: Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.|Editor note: the DO definition is hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1, but this does not differentiate from 9A.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISUFH0J: P5CS deficiency
  DISS571N: Autosomal recessive complex spastic paraplegia type 9B
• Disease Identifiers:
  MONDO ID: MONDO_0014702
  UMLS CUI: C5568980
  OMIM ID: 616586
  MedGen ID: 1800403
  Orphanet ID: 447760
  SNOMED CT ID: 1187467000

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	Strong	Autosomal dominant	[1]

References

• [1] Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. doi: 10.1093/hmg/9.19.2853.