Details of Disease

General Information of Disease (ID: DIS78QKW)

• Disease Name: Mast syndrome
• Synonyms: spastic paraplegia 21, autosomal recessive; mast syndrome; autosomal recessive spastic paraplegia 21; Mast syndrome; hereditary spastic paraplegia 21; SPG21; autosomal recessive spastic paraplegia type 21
• Definition: Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DIS78QKW: Mast syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009568
  MESH ID: C565409
  UMLS CUI: C1855346
  OMIM ID: 248900
  MedGen ID: 343325
  Orphanet ID: 101001
  SNOMED CT ID: 764734003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH16A1	OT50NI6Z	moderate	Biomarker	[1]
SPG21	OTMKJSYS	Strong	Autosomal recessive	[2]

References

• [1] Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.Neurogenetics. 2009 Jul;10(3):217-28. doi: 10.1007/s10048-009-0172-6. Epub 2009 Jan 31.
• [2] Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem. 2001 Mar 23;276(12):9123-32. doi: 10.1074/jbc.M009270200. Epub 2000 Dec 11.