raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:699734

Late infantile CLN1 disease

Synonyms: Late infantile neuronal ceroid lipofuscinosis type 1

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

This disease is described under CLN1 disease

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enLate infantile CLN1 diseaseLate infantile neuronal ceroid lipofuscinosis type 1
frMaladie CLN1 infantile tardiveCéroïde lipofuscinose neuronale infantile tardive type 1
deCLN1-Krankheit, spät-infantileSpät-infantile neuronale Ceroid-Lipofuszinose Typ 1
esEnfermedad CLN1 infantil tardíaLipofuscinosis ceroidea neuronal infantil tardía tipo 1
itMalattia CLN1 infantile tardivaCeroidolipofuscinosi neuronale infantile tardiva tipo 1
nlLaat-infantiele CLN1-ziekteLaat-infantiele neuronale ceroïdlipofuscinose type 1
ptLate infantile CLN1 disease
plLate infantile CLN1 disease= en
csLate infantile CLN1 disease= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM256730NTBTvalidated

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:228329CLN1 disease
    rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
PPT1Disease-causing germline mutation(s) inAssessedHGNC:9325ENSG000001312386007221p34.2palmitoyl-protein thioesterase 132412666[PMID]_34733232[PMID]_7637805[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