ORPHA:631068

Autosomal dominant spastic paraplegia type 80

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant spastic paraplegia type 80
fr	Paraplégie spastique autosomique dominante type 80
de	Spastische Paraplegie, autosomal-dominante, Typ 80
es	Paraplejía espástica autosómica dominante tipo 80
it	Paraplegia spastica autosomica dominante tipo 80
nl	Autosomaal dominante spastische paraplegie type 80
pt	Paraplegia espástica autossómica dominante tipo 80
pl	Autosomalna dominująca paraplegia spastyczna typu 80
cs	Autozomálně dominantní spastická paraplegie, typ 80
uk	Аутосомно-домінантна спастична параплегія, тип 80

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618418	E		validated
ICD-10	G11.4	NTBT	attributed	validated
ICD-11	8B44.00	NTBT	attributed	validated
MONDO	0032737	E		validated
UMLS	C5816771	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
UBAP1	Disease-causing germline mutation(s) in	Assessed	HGNC:12461	ENSG00000165006	609787	9p13.3	ubiquitin associated protein 1	30929741[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		13 cases	Worldwide	Case(s)	Validated	30929741[PMID]_ 31203368[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	30929741[PMID]_ 31203368[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.