ORPHA:699796

Protracted juvenile CLN3 disease

Synonyms: Protacted neuronal ceroid lipofuscinosis type 3

This disease is described under CLN3 disease

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Protracted juvenile CLN3 disease	Protacted neuronal ceroid lipofuscinosis type 3
fr	Maladie CLN3 juvénile prolongée	Céroïde lipofuscinose neuronale juvénile prolongée type 3
de	Protrahierte juvenile neuronale Ceroid-Lipofuszinose Typ 3	CLN3-Krankheit, juvenile protrahierte
es	Enfermedad CLN3 juvenil prolongada	Lipofuscinosis ceroidea neuronal prolongada tipo 3
it	Malattia CLN3 giovanile a decorso prolungato	Ceroidolipofuscinosi neuronale a decorso prolungato tipo 3
nl	Geprotraheerde juveniele CLN3-ziekte	Aanhoudende juveniele CLN3-ziekte · Geprotraheerde neuronale ceroïdlipofuscinose type 3 · Langdurige juveniele CLN3-ziekte
pt	Protracted juvenile CLN3 disease
pl	Protracted juvenile CLN3 disease	= en
cs	Protracted juvenile CLN3 disease	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	204200	NTBT		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):

ORPHA:228346CLN3 disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CLN3	Disease-causing germline mutation(s) in	Assessed	HGNC:2074	ENSG00000188603	607042	16p12.1	CLN3 lysosomal/endosomal transmembrane protein, battenin	15965709[PMID]

0 records

No prevalence record in this release.

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