Details of Disease

General Information of Disease (ID: DISSKW1M)

• Disease Name: Neuronal ceroid lipofuscinosis 5
• Synonyms: ceroid lipofuscinosis, neuronal, 5; Finnish Vlincl; CLN5 disease, adult; CLN5 disease, late infantile (subtype); ceroid lipofuscinosis, neuronal, 5, variable Age at onset; neuronal ceroid lipofuscinosis Finnish variant; CLN5 disease, juvenile; CLN5 disease; neuronal ceroid lipofuscinosis, late infantile, Finnish variant; neuronal ceroid lipofuscinosis type 5; neuronal ceroid lipofuscinosis caused by mutation in CLN5; neuronal ceroid lipofuscinosis 5 variable age of onset; CLN5 neuronal ceroid lipofuscinosis; ceroid lipofuscinosis, neuronal, type 5; CLN5
• 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.
• Disease Hierarchy:
  DIS9A4K4: Neuronal ceroid lipofuscinosis
  DISI3RIL: Late infantile neuronal ceroid lipofuscinosis
  DISSKW1M: Neuronal ceroid lipofuscinosis 5
• Disease Identifiers:
  MONDO ID: MONDO_0009745
  MESH ID: C575534
  UMLS CUI: C1850442
  OMIM ID: 256731
  MedGen ID: 376792
  Orphanet ID: 228360

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLN6	TTJCOQ7	Limited	Genetic Variation	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBXL3	OTDQ1QKV	Limited	Genetic Variation	[2]
CLN5	OTY265P6	Definitive	Autosomal recessive	[3]

References

• [1] Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.Hum Mutat. 2003 May;21(5):502-8. doi: 10.1002/humu.10207.
• [2] Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.Exp Cell Res. 2015 Oct 15;338(1):45-53. doi: 10.1016/j.yexcr.2015.08.021. Epub 2015 Sep 3.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.