raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:700487

Congenital CLN10 disease

Synonyms: CNCL · Congenital neuronal ceroid lipofuscinosis type 10

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

This disease is described under CLN10 disease

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enCongenital CLN10 diseaseCNCL · Congenital neuronal ceroid lipofuscinosis type 10
frMaladie CLN10 congénitaleCNCL · Céroïde lipofuscinose neuronale congénitale type 10
deCLN10-Krankheit, kongenitaleCNCL · Kongenitale neuronale Ceroid-Lipofuszinose Typ 10
esEnfermedad CLN10 congénitaCNCL · Lipofuscinosis ceroidea neuronal congénita tipo 10
itMalattia CLN10 congenitaCNCL · Ceroidolipofuscinosi neuronale congenita tipo 10
nlCongenitale CLN10-ziekteCNCL · Congenitale neuronale ceroïdlipofuscinose type 10
ptCongenital CLN1 disease
plCongenital CLN10 disease= en
csCongenital CLN10 disease= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM610127NTBTvalidated

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:228337CLN10 disease
    rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CTSDDisease-causing germline mutation(s) inAssessedHGNC:2529ENSG0000011798411684011p15.5cathepsin D32412666[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