Details of Disease

General Information of Disease (ID: DISZGTC7)

Disease Name Neuronal ceroid lipofuscinosis 13
Synonyms
CLN13 disease; ceroid lipofuscinosis, neuronal, 13, Kufs type; ceroid lipofuscinosis, neuronal, 13; CLN13; ceroid lipofuscinosis, neuronal, type 13; neuronal ceroid lipofuscinosis 13 Kufs type; CTSF neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis type 13; ceroid lipofuscinosis, neuronal, 13 (Kufs type); neuronal ceroid lipofuscinosis caused by mutation in CTSF
Definition Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.
Disease Hierarchy
DIS5UHAA: Adult neuronal ceroid lipofuscinosis
DIS9A4K4: Neuronal ceroid lipofuscinosis
DISZGTC7: Neuronal ceroid lipofuscinosis 13
Disease Identifiers
MONDO ID
MONDO_0014147
UMLS CUI
C3715049
OMIM ID
615362
MedGen ID
811566
Orphanet ID
352709

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTSF TTJOKD1 Limited Biomarker [1]
CTSF TTJOKD1 Strong 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
CTSF OTI56YTK Strong Autosomal recessive [2]
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References

1 Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.Neurology. 2014 Nov 4;83(19):1769-70. doi: 10.1212/WNL.0000000000000953. Epub 2014 Oct 1.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.