raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:699718

Infantile CLN1 disease

Synonyms: 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
enInfantile CLN1 diseaseInfantile neuronal ceroid lipofuscinosis type 1
frMaladie CLN1 infantileCéroïde lipofuscinose neuronale infantile type 1
deCLN1-Krankheit, infantileInfantile neuronale Ceroid-Lipofuszinose Typ 1
esEnfermedad CLN1 infantilLipofuscinosis ceroidea neuronal infantil tipo 1
itMalattia CLN1 infantileCeroidolipofuscinosi neuronale infantile tipo 1
nlInfantiele CLN1-ziekteInfantiele neuronale ceroïdlipofuscinose type 1
ptInfantile CLN1 disease
plInfantile CLN1 disease= en
csInfantile 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