raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:700472

Juvenile CLN6 disease

Synonyms: Juvenile neuronal ceroid lipofuscinosis type 6

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

This disease is described under CLN6 disease

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enJuvenile CLN6 diseaseJuvenile neuronal ceroid lipofuscinosis type 6
frMaladie CLN6 juvénileCéroïde lipofuscinose neuronale juvénile type 6
deCLN6-Krankheit, juvenileJuvenile neuronale Ceroid-Lipofuszinose Typ 6
esEnfermedad CLN6 juvenilLipofuscinosis ceroidea neuronal juvenil tipo 6
itMalattia CLN6 giovanileCeroidolipofuscinosi neuronale giovanile tipo 6
nlJuveniele CLN6-ziekteJuveniele neuronale ceroïdlipofuscinose type 6
ptJuvenile CLN6 disease
plJuvenile CLN6 disease= en
csJuvenile CLN6 disease= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM601780NTBTvalidated

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:228363CLN6 disease
    rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CLN6Disease-causing germline mutation(s) inAssessedHGNC:2077ENSG0000012897360672515q23CLN6 transmembrane ER protein32412666[PMID]_34733232[PMID]_34684815[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