raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:699812

Adult CLN5 disease

Synonyms: Adult neuronal ceroid lipofuscinosis type 5

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

This disease is described under CLN5 disease

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enAdult CLN5 diseaseAdult neuronal ceroid lipofuscinosis type 5
frMaladie CLN5 adulteCéroïde lipofuscinose neuronale adulte type 5
deCLN5-Krankheit, adulteAdult neuronale Ceroid-Lipofuszinose Typ 5
esEnfermedad CLN5 del adultoLipofuscinosis ceroidea neuronal del adulto tipo 5
itMalattia CLN5 dell'adultoCeroidolipofuscinosi neuronale dell’adulto tipo 5
nlVolwassen CLN5-ziekteVolwassen neuronale ceroïdlipofuscinose type 5
ptAdult CLN5 disease
plAdult CLN5 disease= en
csAdult CLN5 disease= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM256731NTBTvalidated

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:228360CLN5 disease
    rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CLN5Disease-causing germline mutation(s) inAssessedHGNC:2076ENSG0000010280560810213q22.3CLN5 lysosomal BMP synthase2412666[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