Details of Disease

General Information of Disease (ID: DIS15YI9)

• Disease Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
• Synonyms: spastic paraplegia and psychomotor retardation with or without seizures; SPPRS; SPPRS syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome
• Definition: Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS9KXQY: Complex hereditary spastic paraplegia
  DIS80GDF: Monogenic epilepsy
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS15YI9: Spastic paraplegia-severe developmental delay-epilepsy syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014764
  UMLS CUI: C4225215
  OMIM ID: 616756
  MedGen ID: 897828
  Orphanet ID: 464282

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
HACE1	OTEZULKD	Strong	Autosomal recessive	[1]

References

• [1] HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30.