Details of Disease

General Information of Disease (ID: DISJLW1T)

Disease Name Hereditary spastic paraplegia 56
Synonyms
spastic paraplegia 56, autosomal recessive; SPG56; CYP2U1 hereditary spastic paraplegia; autosomal recessive spastic paraplegia type 56; hereditary spastic paraplegia caused by mutation in CYP2U1; autosomal recessive spastic paraplegia 56; hereditary spastic paraplegia type 56
Definition Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DISJLW1T: Hereditary spastic paraplegia 56
Disease Identifiers
MONDO ID
MONDO_0014015
UMLS CUI
C3539507
OMIM ID
615030
MedGen ID
761343
Orphanet ID
320411
SNOMED CT ID
783764008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP2U1 OT6RXLXS Definitive Autosomal recessive [1]
DDHD1 OTWTHOWK Definitive Autosomal recessive [2]
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References

1 Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.
2 Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416.