Details of Disease | DrugMAP

General Information of Disease (ID: DISQDWLC)

Disease Name	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Synonyms	adult neuronal ceroid lipofuscinosis 4A; ceroid lipofuscinosis, neuronal, 4A, autosomal recessive; Kuf's disease, autosomal recessive; Kuf's disease type A; CLN4A disease; neuronal ceroid lipofuscinosis caused by mutation in CLN6; CLN4A; autosomal recessive neuronal ceroid lipofuscinosis 4A; CLN6 neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis 4A; neuronal ceroid lipofuscinosis type 4A
Definition	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.
Disease Hierarchy	DIS5UHAA: Adult neuronal ceroid lipofuscinosis DIS9A4K4: Neuronal ceroid lipofuscinosis DISQDWLC: Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Disease Identifiers	MONDO ID MONDO_0008768 UMLS CUI C5561927 OMIM ID 204300 MedGen ID 1794137 Orphanet ID 228340

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	[1]
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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	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.