neuronal ceroid lipofuscinosis 10
Findings
No curated finding names neuronal ceroid lipofuscinosis 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Definition from the Mondo Disease Ontology (MONDO:0012414), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death · Childhood onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ApneaHPOHP:0002104
- 4 of 4 reported patients
- AtaxiaHPOHP:0001251
- 6 of 6 reported patients
- Cerebellar atrophyHPOHP:0001272
- 6 of 6 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Mental deteriorationHPOHP:0001268
- 6 of 6 reported patients
- Retinal atrophyHPOHP:0001105
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTSDHGNC:2529
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
7 names
Resolves to: neuronal ceroid lipofuscinosis 10
- Also called
- ceroid lipofuscinosis, neuronal, type 10CLN10CLN10-NCLCTSD neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosis caused by mutation in CTSDneuronal ceroid lipofuscinosis due to cathepsin D deficiencyneuronal ceroid lipofuscinosis type 10