ORPHA:631076

Autosomal recessive spastic paraplegia type 83

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 83
fr	Paraplégie spastique autosomique récessive type 83
de	Spastische Paraplegie, autosomal-rezessive, Typ 83
es	Paraplejía espástica autosómica recesiva tipo 83
it	Paraplegia spastica autosomica recessiva tipo 83
nl	Autosomaal recessieve spastische paraplegie type 83
pt	Paraplegia espástica autossómica recessiva tipo 83
pl	Autosomalna recesywna paraplegia spastyczna typu 83
cs	Autozomálně recesivní spastická paraplegie, typ 83
uk	Аутосомно-рецесивна спастична параплегія, тип 83

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	619027	E		validated
ICD-10	G11.4	NTBT	attributed	validated
ICD-11	8B44.01	NTBT	attributed	validated
MONDO	0033614	E		validated
UMLS	C5816768	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
HPDL	Disease-causing germline mutation(s) in	Assessed	HGNC:28242	ENSG00000186603	618994	1p34.1	4-hydroxyphenylpyruvate dioxygenase like	33188300[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		16 cases	Worldwide	Case(s)	Validated	32707086[PMID]_33188300[PMID]_33970200[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	32707086[PMID]_33188300[PMID]_33970200[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.