MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: inherited neurodegenerative disorder (MONDO:0024237)
Parent Node: paraplegia (MONDO:0003757)
..Starting node ..hereditary spastic paraplegia ()
Child Nodes:
........Charcot-Marie-Tooth disease type 5 ()
........complex hereditary spastic paraplegia ()
........hereditary spastic paraplegia 33 ()
........hereditary spastic paraplegia 77 ()
........pure hereditary spastic paraplegia ()
........pure or complex hereditary spastic paraplegia ()
Sister Nodes:
..Brown-Sequard syndrome ()
..hereditary spastic paraplegia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19064
Name:	hereditary spastic paraplegia
Definition:	Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	familial spastic paraparesis; familial spastic paraplegia; French settlement disease; FSP; hereditary spastic paraparesis; HSP; spastic paraplegia; SPG; Strumpell-Lorrain disease; StrC
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal