General Information of Disease (ID: DIS0N7IU)

Disease Name Hereditary spastic paraplegia 72
Synonyms
spastic paraplegia 72, autosomal dominant; spastic paraplegia 72, autosomal recessive; pure hereditary spastic paraplegia caused by mutation in REEP2; REEP2 pure hereditary spastic paraplegia; SPG72; autosomal spastic paraplegia type 72; hereditary spastic paraplegia type 72
Definition
Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.|Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance
Disease Hierarchy
DIS8X71E: Pure hereditary spastic paraplegia
DIS0N7IU: Hereditary spastic paraplegia 72
Disease Identifiers
MONDO ID
MONDO_0014282
UMLS CUI
C3810160
OMIM ID
615625
MedGen ID
816490
Orphanet ID
401849
SNOMED CT ID
782727008

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
REEP2 OTPCRA5O Strong Autosomal dominant [1]
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References

1 [Dumping syndrome and reactive hypoglycemia in a patient following esophagoplasty and methods of treatment]. Zentralbl Chir. 1987;112(5):320-6.