Details of Disease

General Information of Disease (ID: DIS8YLJJ)

Disease Name	CLN6 disease
Synonyms	neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; ceroid lipofuscinosis, neuronal, 6, variable age at onset; CLN6 disease, late infantile (subtype); CLN6 disease; ceroid lipofuscinosis, neuronal, 6; CLN6 disease, adult Kufs type A (subtype); CLN6; neuronal ceroid lipofuscinosis type 6; neuronal ceroid lipofuscinosis 6; vLINCL; CLN6 late infantile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis 6 variable age of onset; neuronal ceroid lipofuscinosis, late infantile, variant; ceroid lipofuscinosis, neuronal, type 6; CLN6A; late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6
Disease Class	5C56: Lysosomal disease
Definition	A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 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 developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 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	DISI3RIL: Late infantile neuronal ceroid lipofuscinosis DISQDWLC: Ceroid lipofuscinosis, neuronal, 6B (Kufs type) DIS8YLJJ: CLN6 disease
ICD Code	ICD-11 ICD-11: 5C56.1
Disease Identifiers	MONDO ID MONDO_0011144 UMLS CUI C5551375 OMIM ID 601780 MedGen ID 1790423 Orphanet ID 228363

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AT-GTX-501	DMGKYAE	Phase 1/2	Gene therapy	[1]
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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	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLN6	OT91IAYT	Definitive	Autosomal recessive	[2]
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References

1	ClinicalTrials.gov (NCT02725580) Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9. U.S.National Institutes of Health.
2	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.