Details of Disease | DrugMAP

General Information of Disease (ID: DISVZUFT)

Disease Name	Neuronal ceroid lipofuscinosis 7
Synonyms	CLN7 disease; CLN7 disease, late infantile; ceroid lipofuscinosis, neuronal, 7; CLN7; neuronal ceroid lipofuscinosis type 7; neuronal ceroid lipofuscinosis 7; neuronal ceroid lipofuscinosis caused by mutation in MFSD8; ceroid lipofuscinosis, neuronal, type 7; MFSD8 neuronal ceroid lipofuscinosis
Definition	Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 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	DIS9A4K4: Neuronal ceroid lipofuscinosis DISI3RIL: Late infantile neuronal ceroid lipofuscinosis DISVZUFT: Neuronal ceroid lipofuscinosis 7
Disease Identifiers	MONDO ID MONDO_0012588 MESH ID C563989 UMLS CUI C1838571 OMIM ID 610951 MedGen ID 325457 Orphanet ID 228366

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLN5	OTY265P6	Strong	Biomarker	[1]
CLN8	OT0D4CB5	Strong	Genetic Variation	[2]
MFSD8	OT455EIC	Definitive	Autosomal recessive	[3]
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References

1	Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.Hum Mol Genet. 2018 May 15;27(10):1711-1722. doi: 10.1093/hmg/ddy076.
2	Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.Eur J Paediatr Neurol. 2001;5 Suppl A:21-7. doi: 10.1053/ejpn.2000.0429.
3	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.