raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:699751

Infantile CLN2 disease

Synonyms: Infantile neuronal ceroid lipofuscinosis type 2

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

This disease is described under CLN2 disease

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enInfantile CLN2 diseaseInfantile neuronal ceroid lipofuscinosis type 2
frMaladie CLN2 infantileCéroïde lipofuscinose neuronale infantile type 2
deCLN2-Krankheit, infantileInfantile neuronale Ceroid-Lipofuszinose Typ 2
esEnfermedad CLN2 infantilLipofuscinosis ceroidea neuronal infantil tipo 2
itMalattia CLN2 infantileCeroidolipofuscinosi neuronale infantile tipo 2
nlInfantiele CLN2-ziekteInfantiele neuronale ceroïdlipofuscinose type 2
ptInfantile CLN2 disease
plInfantile CLN2 disease= en
csInfantile CLN2 disease= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM204500NTBTvalidated

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:228349CLN2 disease
    rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
TPP1Disease-causing germline mutation(s) inAssessedHGNC:2073ENSG0000016634060799811p15.4tripeptidyl peptidase 132412666[PMID]_34733232[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