Details of Disease

General Information of Disease (ID: DISGNC07)

Disease Name Neuronal ceroid lipofuscinosis 8
Synonyms
CLN8 disease; ceroid lipofuscinosis, neuronal, 8; ceroid lipofuscinosis, neuronal, type 8; CLN8 neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis 8; neuronal ceroid lipofuscinosis caused by mutation in CLN8; CLN8; neuronal ceroid lipofuscinosis type 8
Definition Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.
Disease Hierarchy
DISX9A5W: Juvenile neuronal ceroid lipofuscinosis
DIS9A4K4: Neuronal ceroid lipofuscinosis
DISI3RIL: Late infantile neuronal ceroid lipofuscinosis
DISGNC07: Neuronal ceroid lipofuscinosis 8
Disease Identifiers
MONDO ID
MONDO_0010830
UMLS CUI
C1838570
OMIM ID
600143
MedGen ID
374004
Orphanet ID
228354

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLN6 TTJCOQ7 Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLN5 OTY265P6 Strong Biomarker [2]
MFSD8 OT455EIC Strong Biomarker [3]
CLN8 OT0D4CB5 Definitive Autosomal recessive [4]
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References

1 Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses.Ann Clin Transl Neurol. 2018 Aug 14;5(9):1089-1103. doi: 10.1002/acn3.625. eCollection 2018 Sep.
2 Studies of homogenous populations: CLN5 and CLN8.Adv Genet. 2001;45:123-40. doi: 10.1016/s0065-2660(01)45007-3.
3 CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.Eur J Paediatr Neurol. 2013 Nov;17(6):657-60. doi: 10.1016/j.ejpn.2013.04.011. Epub 2013 Jun 2.
4 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.