Details of Disease

General Information of Disease (ID: DISAIONI)

Disease Name	CLN1 disease
Synonyms	congenital NCL; lipofuscin storage disease; congenital neuronal ceroid lipofuscinosis; classic late infantile CLN (type of CLN1); Santavuori disease; adult CLN (type of CLN1); infantile CLN (type of CLN1); neuronal ceroid lipofuscinosis, infantile; juvenile CLN (type of CLN1); infantile neuronal ceroid lipofuscinosis; Santavuori-Haltia disease; ceroid lipofuscinosis, neuronal, 1; CLN1 disease; PPT1 neuronal ceroid lipofuscinosis; ceroid lipofuscinosis, neuronal, 1, variable Age at onset; ceroid lipofuscinosis, neuronal, type 1; CLN1 variable age at onset; neuronal ceroid lipofuscinosis type 1; ceroid storage disease; neuronal ceroid lipofuscinosis caused by mutation in PPT1; CLN1; neuronal ceroid lipofuscinosis 1 variable age of onset; ceroid lipofuscinosis neuronal 1; neuronal ceroid lipofuscinosis 1
Disease Class	5C56: Lysosomal disease
Definition	A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Disease Hierarchy	DIS9A4K4: Neuronal ceroid lipofuscinosis DISAIONI: CLN1 disease
ICD Code	ICD-11 ICD-11: 5C56.1
Disease Identifiers	MONDO ID MONDO_0009744 MESH ID C564953 UMLS CUI C1850451 OMIM ID 256730 MedGen ID 340540 Orphanet ID 228329

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
TSHA-118	DMLMV7V	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 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TPP1	TTOVYPT	Limited	Biomarker	[2]
PPT1	TTSQC14	Definitive	Autosomal recessive	[3]
PPT1	TTSQC14	Definitive	Altered Expression	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STXBP1	OTRYA8C3	Strong	Biomarker	[2]
PPT1	OTM3S4DE	Definitive	Autosomal recessive	[3]
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References

1	Clinical pipeline report, company report or official report of Taysha Gene Therapies
2	Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.J Proteome Res. 2017 Oct 6;16(10):3787-3804. doi: 10.1021/acs.jproteome.7b00460. Epub 2017 Aug 28.
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.
4	CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease).Sci Rep. 2019 Jul 9;9(1):9891. doi: 10.1038/s41598-019-45859-9.