Details of Disease

General Information of Disease (ID: DISKPI4X)

Disease Name Neuronal ceroid lipofuscinosis 2
Synonyms
CLN2 disease; Jansky-Bielschowsky disease; neuronal ceroid lipofuscinosis, late infantile; ceroid lipofuscinosis, neuronal, 2; CLN2 disease, juvenile (subtype); CLN2 disease, late infantile (subtype); ceroid lipofuscinosis, neuronal, 2, variable Age at onset; late infantile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis caused by mutation in TPP1; ceroid lipofuscinosis, neuronal, type 2; neuronal ceroid lipofuscinosis 2 variable age at onset; TPP1 neuronal ceroid lipofuscinosis; CLN2; neuronal ceroid lipofuscinosis type 2
Definition
A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Disease Hierarchy
DISX9A5W: Juvenile neuronal ceroid lipofuscinosis
DIS9A4K4: Neuronal ceroid lipofuscinosis
DISI3RIL: Late infantile neuronal ceroid lipofuscinosis
DISKPI4X: Neuronal ceroid lipofuscinosis 2
Disease Identifiers
MONDO ID
MONDO_0008769
MESH ID
C566857
UMLS CUI
C1876161
OMIM ID
204500
MedGen ID
406281
Orphanet ID
228349

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
CLN3 TTORF9W Limited Biomarker [1]
TPP1 TTOVYPT Definitive Autosomal recessive [2]
TPP1 TTOVYPT Definitive Biomarker [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TPP1 OT2LQ771 Definitive Autosomal recessive [2]
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References

1 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.
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.
3 Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13.