Details of Disease | DrugMAP

General Information of Disease (ID: DISC5V9S)

Disease Name	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Synonyms	Kufs disease, autosomal dominant; adult neuronal ceroid lipofuscinosis 4B; Kuf's disease, autosomal dominant; CLN4B; ceroid lipofuscinosis, neuronal, parry type; ceroid lipofuscinosis, neuronal, 4B, autosomal dominant; Kuf's disease type B; CLN4B disease; ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant; autosomal dominant Kufs disease; neuronal ceroid lipofuscinosis, parry type; neuronal ceroid lipofuscinosis 4 parry type; CLN4; neuronal ceroid lipofuscinosis 4B; autosomal dominant neuronal ceroid lipofuscinosis 4B; neuronal ceroid lipofuscinosis type 4B; ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Definition	A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Disease Hierarchy	DIS5UHAA: Adult neuronal ceroid lipofuscinosis DISC5V9S: Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Disease Identifiers	MONDO ID MONDO_0008083 MESH ID D009472 UMLS CUI C1834207 OMIM ID 162350 MedGen ID 320287 Orphanet ID 228343

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
CLN6	TTJCOQ7	moderate	Biomarker	[1]
TPP1	TTOVYPT	Strong	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP13A2	OTKWBUGK	Strong	Biomarker	[3]
DNAJC5	OTCZDXAL	Strong	Autosomal dominant	[4]
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References

1	Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis.Biol Open. 2013 May 20;2(6):635-46. doi: 10.1242/bio.20134804. Print 2013 Jun 15.
2	Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol. 2001;5 Suppl A:57-62. doi: 10.1053/ejpn.2000.0436.
3	Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants. J Neurosci Res. 2012 Dec;90(12):2306-16. doi: 10.1002/jnr.23112. Epub 2012 Jul 30.
4	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.