Details of Disease | DrugMAP

General Information of Disease (ID: DISK49S1)

Disease Name	Neuronal ceroid lipofuscinosis 10
Synonyms	ceroid lipofuscinosis neuronal Cathepsin D-deficient; neuronal ceroid lipofuscinosis due to Cathepsin D deficiency; neuronal ceroid lipofuscinosis, congenital; ceroid lipofuscinosis, neuronal, Cathepsin D-deficient; ceroid lipofuscinosis, neuronal, 10; CLN10 disease, adult (subtype); CLN10 disease, congenital (subtype); CLN10 disease; CLN10 disease, late infantile (subtype); CLN10 disease, juvenile (subtype); neuronal ceroid lipofuscinosis cathepsin D-deficient; neuronal ceroid lipofuscinosis type 10; Cathepsin D deficiency; neuronal ceroid lipofuscinosis caused by mutation in CTSD; ceroid lipofuscinosis, neuronal, type 10; CLN10; CLN10-NCL; neuronal ceroid lipofuscinosis due to cathepsin D deficiency; CTSD neuronal ceroid lipofuscinosis
Definition	A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Disease Hierarchy	DISX9A5W: Juvenile neuronal ceroid lipofuscinosis DIS5UHAA: Adult neuronal ceroid lipofuscinosis DIS9A4K4: Neuronal ceroid lipofuscinosis DISI3RIL: Late infantile neuronal ceroid lipofuscinosis DISK49S1: Neuronal ceroid lipofuscinosis 10
Disease Identifiers	MONDO ID MONDO_0012414 MESH ID C566438 UMLS CUI C1864669 OMIM ID 610127 MedGen ID 350481 Orphanet ID 228337 SNOMED CT ID 720830009

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
CTSD	TTPT2QI	Definitive	Autosomal recessive	[1]
CTSD	TTPT2QI	Definitive	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTSD	OTQZ36F3	Definitive	Autosomal recessive	[1]
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References

1	Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet. 2006 Jun;78(6):988-98. doi: 10.1086/504159. Epub 2006 Mar 29.
2	Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28.