raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:699802

Late infantile CLN5 disease

Synonyms: Late infantile 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
enLate infantile CLN5 diseaseLate infantile neuronal ceroid lipofuscinosis type 5
frMaladie CLN5 infantile tardiveCéroïde lipofuscinose neuronale infantile tardive type 5
deCLN5-Krankheit, spät-infantileSpät-infantile neuronale Ceroid-Lipofuszinose Typ 5
esEnfermedad CLN5 infantil tardíaLipofuscinosis ceroidea neuronal infantil tardía tipo 5
itMalattia CLN5 infantile tardivaCeroidolipofuscinosi neuronale infantile tardiva tipo 5
nlLaat-infantiele CLN5-ziekteLaat-infantiele neuronale ceroïdlipofuscinose type 5
ptLate infantile CLN5 disease
plLate infantile CLN5 disease= en
csLate infantile 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