ORPHA:631082

Autosomal recessive spastic paraplegia type 85

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive spastic paraplegia type 85
fr	Paraplégie spastique autosomique récessive type 85
de	Spastische Paraplegie, autosomal-rezessive, Typ 85
es	Paraplejía espástica autosómica recesiva tipo 85
it	Paraplegia spastica autosomica recessiva tipo 85
nl	Autosomaal recessieve spastische paraplegie type 85
pt	Paraplegia espástica autossómica recessiva tipo 85
pl	Autosomalna recesywna paraplegia spastyczna typu 85
cs	Autozomálně recesivní spastická paraplegie, typ 85
uk	Аутосомно-рецесивна спастична параплегія, тип 85

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	619686	E		validated
ICD-10	G11.4	NTBT	attributed	validated
ICD-11	8B44.01	NTBT	attributed	validated
MONDO	0858990	E		validated
MONDO	30512	E		validated
MONDO	858990	E		validated
UMLS	C5816770	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RNF170	Disease-causing germline mutation(s) in	Assessed	HGNC:25358	ENSG00000120925	614649	8p11.21	ring finger protein 170	31636353[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		9 cases	Worldwide	Case(s)	Validated	31636353[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	31636353[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

Orphanet has no HPO annotation for this code in this release.