Details of Disease | DrugMAP

General Information of Disease (ID: DISOYLAP)

Disease Name	Hereditary spastic paraplegia 5A
Synonyms	autosomal recessive spastic paraplegia; spastic paraplegia 5A, autosomal recessive; spastic paraplegia type 5A; spastic paraplegia 5A; hereditary spastic paraplegia type 5A; spastic paraplegia type 5B, recessive; autosomal recessive spastic paraplegia 5A; CYP7B1 pure or complex autosomal recessive spastic paraplegia; autosomal recessive spastic paraplegia type 5A; SPG5A; pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1
Definition	Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.\|OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb.
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DISOYLAP: Hereditary spastic paraplegia 5A
Disease Identifiers	MONDO ID MONDO_0010047 MESH ID C564811 UMLS CUI C1849115 OMIM ID 270800 MedGen ID 376521 Orphanet ID 100986 SNOMED CT ID 763373005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7B1	DE36TMY	moderate	Biomarker	[1]
CYP7B1	DE36TMY	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP7B1	OTIKFYP6	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.Pediatr Neonatol. 2020 Feb;61(1):75-83. doi: 10.1016/j.pedneo.2019.06.009. Epub 2019 Jul 4.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.