Details of Disease

General Information of Disease (ID: DIS18ARV)

• Disease Name: Autosomal recessive spastic paraplegia type 76
• Synonyms: hereditary spastic paraplegia 76; autosomal recessive spastic paraplegia 76; spastic paraplegia 76, autosomal recessive; CAPN1 autosomal recessive complex spastic paraplegia; autosomal recessive complex spastic paraplegia caused by mutation in CAPN1; SPG76; hereditary spastic paraplegia type 76
• Definition: Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DIS18ARV: Autosomal recessive spastic paraplegia type 76
• Disease Identifiers:
  MONDO ID: MONDO_0014827
  UMLS CUI: C5567483
  OMIM ID: 616907
  MedGen ID: 1798906
  Orphanet ID: 488594
  SNOMED CT ID: 1172631001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CAPN1	TT1WBIJ	Strong	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAPN1	OTK6OQZR	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.