Details of Disease

General Information of Disease (ID: DIS4YFC4)

• Disease Name: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
• Synonyms: CPSQ1; cerebral palsy spastic quadriplegic; cerebral palsy, spastic quadriplegic, type 1; cerebral palsy, spastic quadriplegic, 1; NEDSWMA; infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
• Disease Hierarchy:
  DISBJRHC: Spastic quadriplegic cerebral palsy
  DISYOKTG: Mendelian neurodevelopmental disorder
  DIS4YFC4: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
• Disease Identifiers:
  MONDO ID: MONDO_0033613
  UMLS CUI: C5436628
  OMIM ID: 619026
  MedGen ID: 1736667

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
GAD1	TTKGEP3	Limited	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GAD1	OT52Z39J	Limited	Autosomal recessive	[1]
HPDL	OTW7D1SV	Strong	Autosomal recessive	[2]

References

• [1] Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurol. 2004 Nov 30;4(1):20. doi: 10.1186/1471-2377-4-20.
• [2] Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23.