Details of Disease

General Information of Disease (ID: DISA9RYJ)

• Disease Name: Troyer syndrome
• Synonyms: spastic paraplegia, autosomal recessive, Troyer type; spastic paraplegia 20; spastic paraparesis, childhood-onset, with distal muscle wasting; spastic paraplegia 20, autosomal recessive; Cross-McKusick syndrome; autosomal recessive spastic paraplegia type 20; spastic paraplegia 20 (Troyer syndrome); childhood-onset spastic paraparesis-distal muscle wasting syndrome; hereditary spastic paraplegia 20; childhood-onset spastic paraparesis with distal muscle wasting; spastic paraplegia type 20; Troyer syndrome; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia 20; SPG20
• Definition: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISA9RYJ: Troyer syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010156
  MESH ID: C536858
  UMLS CUI: C0393559
  OMIM ID: 275900
  MedGen ID: 97950
  Orphanet ID: 101000
  SNOMED CT ID: 230264003

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
PNPLA6	TTWAQU2	Strong	Biomarker	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7B1	DE36TMY	moderate	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERLIN2	OT551BVG	moderate	Genetic Variation	[2]
SPG11	OTZ7LJX4	moderate	Genetic Variation	[2]
SPART	OTIVOS2I	Definitive	Autosomal recessive	[3]

References

• [1] Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.Muscle Nerve. 2011 Jan;43(1):19-25. doi: 10.1002/mus.21777.
• [2] Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.J Neurol Sci. 2012 Jul 15;318(1-2):1-18. doi: 10.1016/j.jns.2012.03.025. Epub 2012 May 1.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.