raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:700477

Adult CLN6 disease

Synonyms: Adult 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
enAdult CLN6 diseaseAdult neuronal ceroid lipofuscinosis type 6
frMaladie CLN6 adulteCéroïde lipofuscinose neuronale adulte type 6
deCLN6-Krankheit, adulteAdult neuronale Ceroid-Lipofuszinose Typ 6
esEnfermedad CLN6 del adultoLipofuscinosis ceroidea neuronal del adulto tipo 6
itMalattia CLN6 dell’adultoCeroidolipofuscinosi neuronale dell’adulto tipo 6
nlVolwassen CLN6-ziekteVolwassen neuronale ceroïdlipofuscinose type 6
ptAdult CLN6 disease
plAdult CLN6 disease= en
csAdult CLN6 disease= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM204300Evalidated

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