ORPHA:631073

Autosomal recessive spastic paraplegia type 82

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 82
fr	Paraplégie spastique autosomique récessive type 82
de	Spastische Paraplegie, autosomal-rezessive, Typ 82
es	Paraplejía espástica autosómica recesiva tipo 82
it	Paraplegia spastica autosomica recessiva tipo 82
nl	Autosomaal recessieve spastische paraplegie type 82
pt	Paraplegia espástica autossómica recessiva tipo 82
pl	Autosomalna recesywna paraplegia spastyczna typu 82
cs	Autozomálně recesivní spastická paraplegie, typ 82
uk	Аутосомно-рецесивна спастична параплегія, тип 82

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618770	E		validated
ICD-10	G11.4	NTBT	attributed	validated
ICD-11	8B44.01	NTBT	attributed	validated
MONDO	0032906	E		validated
UMLS	C5816767	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
PCYT2	Disease-causing germline mutation(s) in	Assessed	HGNC:8756	ENSG00000185813	602679	17q25.3	phosphate cytidylyltransferase 2, ethanolamine	31637422[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		5 cases	Worldwide	Case(s)	Validated	31637422[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	31637422[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.