Details of Disease

General Information of Disease (ID: DISOCU0D)

• Disease Name: Hereditary spastic paraplegia 44
• Synonyms: spastic paraplegia 44, autosomal recessive; autosomal recessive spastic paraplegia type 44; autosomal recessive spastic paraplegia 44; SPG44; GJC2 autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 44; autosomal recessive complex spastic paraplegia caused by mutation in GJC2
• Definition: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISOCU0D: Hereditary spastic paraplegia 44
• Disease Identifiers:
  MONDO ID: MONDO_0013179
  MESH ID: C567707
  UMLS CUI: C2750784
  OMIM ID: 613206
  MedGen ID: 413042
  Orphanet ID: 320401
  SNOMED CT ID: 723821002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJC2	TTPOCAL	Limited	Genetic Variation	[1]
GJC2	TTPOCAL	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJC2	OTLF9WW4	Definitive	Autosomal dominant	[2]

References

• [1] Diseases of connexins expressed in myelinating glia.Neurosci Lett. 2019 Mar 16;695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23.
• [2] Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.