raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:699780

Juvenile CLN3 disease

Synonyms: Juvenile neuronal ceroid lipofuscinosis type 3

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Status
active

This disease is described under CLN3 disease

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enJuvenile CLN3 diseaseJuvenile neuronal ceroid lipofuscinosis type 3
frMaladie CLN3 juvénileCéroïde lipofuscinose neuronale juvénile type 3
deCLN3-Krankheit, juvenileJuvenile neuronale Ceroid-Lipofuszinose Typ 3
esEnfermedad CLN3 juvenilLipofuscinosis ceroidea neuronal juvenil tipo 3
itMalattia CLN3 giovanileCeroidolipofuscinosi neuronale giovanile tipo 3
nlJuveniele CLN3-ziekteJuveniele neuronale ceroïdlipofuscinose type 3
ptJuvenile CLN3 disease
plJuvenile CLN3 disease= en
csJuvenile CLN3 disease= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM204200NTBTvalidated

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

3

Classification

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.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CLN3Disease-causing germline mutation(s) inAssessedHGNC:2074ENSG0000018860360704216p12.1CLN3 lysosomal/endosomal transmembrane protein, battenin15965709[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card