neuronal ceroid lipofuscinosis 5
Findings
No curated finding names neuronal ceroid lipofuscinosis 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 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:0009745), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
8 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.
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 2 of 2 reported patients
- Limb tremorHPOHP:0200085
- 2 of 2 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 2 reported patients
- MyoclonusHPOHP:0001336
- 2 of 2 reported patients
- Progressive visual lossHPOHP:0000529
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.
- CLN5HGNC:2076
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
5 names
Resolves to: neuronal ceroid lipofuscinosis 5
- Also called
- ceroid lipofuscinosis, neuronal, type 5CLN5CLN5 neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosis caused by mutation in CLN5neuronal ceroid lipofuscinosis type 5