Details of Disease

General Information of Disease (ID: DISCJZO8)

Disease Name Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Synonyms kyphoscoliosis-lateral tongue atrophy-HSP syndrome
Disease Hierarchy
DIS9KXQY: Complex hereditary spastic paraplegia
DISCJZO8: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Disease Identifiers
MONDO ID
MONDO_0044648
UMLS CUI
C5567452
MedGen ID
1798875
Orphanet ID
496689
SNOMED CT ID
1172590009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KY OTK1L8VX Supportive Autosomal recessive [1]
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References

1 Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10.