Neuronal Ceroid-lipofuscinoses malady

Genetics Home Reference: Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. Beginning in childhood, affected individuals develop progressive vision loss, seizures, and intellectual decline.¹⁷

MalaCards: Neuronal Ceroid-lipofuscinoses, also known as neuronal ceroid lipofuscinoses, is related to ceroid lipofuscinosis neuronal 8 and neuronitis. An important gene associated with Neuronal Ceroid-lipofuscinoses is CLN5 (ceroid-lipofuscinosis, neuronal 5), and among its related pathways is Lysosome. The compounds glycosphingolipid and cyanine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are vision/eye and nervous system.

GeneReviews summary for ncl

neuronal ceroid-lipofuscinoses 15 17 43 neuronal ceroid lipofuscinoses 30 16 32 mfsd8-related neuronal ceroid-lipofuscinosis 15 16 cln8-related neuronal ceroid-lipofuscinosis 15 16 cln3-related neuronal ceroid-lipofuscinosis 15 16 tpp1-related neuronal ceroid-lipofuscinosis 15 16 ppt1-related neuronal ceroid-lipofuscinosis 15 16 cln6-related neuronal ceroid-lipofuscinosis 15 16 cln9-related neuronal ceroid-lipofuscinosis 15 16 cln5-related neuronal ceroid-lipofuscinosis 15 16

ctsd-related neuronal ceroid-lipofuscinosis 15 16 ceroid lipofuscinosis, neuronal, 9 (disorder) 43 cln7-related neuronal ceroid-lipofuscinosis 16 ceroid lipofuscinosis, neuronal 3, juvenile 43 ceroid lipofuscinosis, neuronal, 5 43 ceroid lipofuscinosis, neuronal, 7 43 ceroid lipofuscinosis, neuronal, 8 43 ceroid lipofuscinosis, neuronal, 6 43 ncl 16

Diseases related to neuronal ceroid-lipofuscinoses by text searches and GeneDecks gene sharing:

(show top 50)    (show all 105)

id	Related Disease	Score	Top Affiliating Genes
1	ceroid lipofuscinosis neuronal 8	31.1	CLN8, CLN3, CLN5
2	neuronitis	30.5	SLC1A3, PSAP, PVALB, DNAJC5, PPT1, CTSD
3	lysosomal storage disease	29.7	PSAP, PPT1, CTSD, TPP1, CLN3
4	batten disease	28.5	PPT1, CTSD, CLN5, CLN6, CLN3, CLN8
5	neuronal ceroid-lipofuscinosis	28.1	CLN6, CLN3, CLN8, BAMBI, MFSD8, TPP1
6	neurodegeneration	27.0	SLC1A3, PVALB, PPT1, CTSD, TPP1, CALB2
7	ceroid lipofuscinosis	26.7	TPP1, CTSD, PPT1, DNAJC5, PSAP, MFSD8
8	neuroblastoma	23.9	PSAP, PVALB, PPT1, CTSD, CALB2, CLN3
9	peripheral retinal degeneration	13.2	CLN5, CLN3
10	epilepsy syndrome	13.1	CLN3, CLN5
11	progressive myoclonus epilepsy	13.0	TPP1, CLN3, CLN5
12	myoclonus epilepsy	13.0	CLN5, CLN3, TPP1
13	myoclonus	12.9	TPP1, CLN3, CLN5
14	visual seizure	12.7	TPP1, MFSD8, CLN8, CLN6
15	fetal alcohol syndrome	12.6	CALB2, PVALB
16	neuronal migration disorders	12.5	CALB2, PVALB
17	focal epilepsy	12.4	PVALB, CALB2
18	pneumothorax	12.4	PVALB, CALB2, CLN3
19	hemangioendothelioma	12.3	CALB2, CTSD
20	xeroderma pigmentosum, group a	12.3	PSAP, PVALB, CALB2
21	west syndrome	12.2	PVALB, SLC1A3
22	xeroderma pigmentosum	12.2	PSAP, PVALB, CALB2
23	retinal degeneration	12.1	CLN5, CLN3, SLC1A3
24	blindness	12.1	CLN5, CLN6, CLN3, CLN8, TPP1, PPT1
25	dentatorubral-pallidoluysian atrophy	11.9	SLC1A3, PVALB, CALB2
26	pulmonary plasma cell granuloma	11.8	CALB2, PVALB, SLC1A3
27	gliosis	11.8	SLC1A3, PVALB, CALB2
28	cerebral atrophy	11.7	CLN5, CLN6, CLN3, CLN8, TPP1, PPT1
29	prion disease	11.5	CLN5, CALB2, PVALB, SLC1A3
30	amyotrophic lateral sclerosis	11.1	SLC1A3, PVALB, CTSD, CALB2
31	temporal lobe epilepsy	11.0	SLC1A3, PVALB, CTSD, CALB2, BAMBI
32	lateral sclerosis	11.0	SLC1A3, PVALB, CTSD, CALB2
33	retinitis	9.9	SLC1A3, PVALB, PPT1, CTSD, TPP1, CALB2
34	neurodegenerative disease	9.8	PPT1, PVALB, PSAP, CTSD, TPP1, CALB2
35	neuronal ceroid-lipofuscinoses multi-gene panels	9.1
36	dementia	9.0	CLN5, CLN6, CLN3, CLN8, MFSD8, CALB2
37	seizures	9.0	CLN3, CLN8, MFSD8, CALB2, TPP1, PPT1
38	cerebritis	8.9	SLC1A3, PSAP, PVALB, DNAJC5, PPT1, CTSD
39	juvenile batten disease	8.7
40	ceroid lipofuscinosis neuronal 2	8.6
41	neuronal ceroid-lipofuscinosis, infantile	8.6
42	autosomal dominant neuronal ceroid lipofuscinosis 4b	8.6
43	ceroid lipofuscinosis neuronal 6	7.7
44	ceroid lipofuscinosis neuronal 7	7.7
45	ceroid lipofuscinosis neuronal 9	7.7
46	ceroid storage disease	7.7
47	ceroid-lipofuscinosis, neuronal 2, classic late infantile	7.7
48	ceroid-lipofuscinosis, neuronal-5, variant late infantile	7.7
49	ceroid-lipofuscinosis, neuronal-6, variant late infantile	7.7
50	ceroid-lipofuscinosis, neuronal-3, juvenile	7.7

Approved drugs:

Drug clinical trials:

Genetic tests related to neuronal ceroid-lipofuscinoses:

id	Genetic test	Affiliating Genes
1	Neuronal Ceroid-lipofuscinoses clinical/research	CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1

MalaCards organs/tissues related to neuronal ceroid-lipofuscinoses:

²²

MGI Mouse Phenotypes related to neuronal ceroid-lipofuscinoses:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye phenotype	MP:0005391	7.0	PSAP, DNAJC5, PPT1, CTSD, CLN8, CLN3
2	nervous system phenotype	MP:0003631	5.2	CLN5, SLC1A3, CLN6, CLN3, CLN8, CALB2
3	behavior/neurological phenotype	MP:0005386	5.2	CALB2, CLN3, CLN8, BAMBI, TPP1, CTSD

Articles related to neuronal ceroid-lipofuscinoses:

(show all 32)

id	Title	Authors	Year	Affiliating Genes
1	Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. (21990111)	Kousi M.... Mole S.E.	2011	CTSD, PPT1, TPP1
2	Neuronal ceroid lipofuscinoses. (19084560)	Jalanko A.... Braulke T.	2009	CLN5
3	Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. (16465529)	Hachiya Y.... Kurata K.	2006	SLC1A3, CALB2, PVALB
4	Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. (16839750)	Kyttala A.... Hofmann S.L.	2006	CLN5
5	Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (15965709)	Mole S.E.... Goebel H.H.	2005	CLN5, CLN6, CLN8
6	Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses. (15837574)	Myllykangas L.... Feany M.B.	2005	CTSD
7	Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses. (15820783)	Kohan R.... de Kremer R.D.	2005	PPT1, TPP1
8	The genetic spectrum of human neuronal ceroid-lipofuscinoses. (14997939)	Mole S.E.	2004	CLN5
9	Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). (12125808)	Hofmann S.L.... Lu J.Y.	2002	PPT1, TPP1
10	Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. (12134079)	Vesa J.... Peltonen L.	2002	TPP1, CLN3, CLN5
11	Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. (12125809)	Vesa J.... Peltonen L.	2002	CLN3, CLN5
12	The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. (12025857)	Weimer J.M.... Pearce D.A.	2002	PPT1, TPP1, CLN3
13	An Australasian diagnostic service for the neuronal ceroid lipofuscinoses. (11588997)	Muller V.J.... Fietz M.J.	2001	PPT1, TPP1
14	Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses. (11332776)	Kida E.... Wisniewski K.E.	2001	PSAP
15	Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). (11722572)	Holopainen J.M.... Jarvela I.	2001	PPT1, CLN3, CLN5
16	Neuronal ceroid lipofuscinoses: classification and diagnosis. (11332767)	Wisniewski K.E.... Zhong N.	2001	PPT1, TPP1, CLN3
17	Biochemistry of neuronal ceroid lipofuscinoses. (11332778)	Junaid M.A.... Pullarkat R.K.	2001	TPP1, CLN3
18	Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. (11589013)	Wisniewski K.E.... Golabek A.A.	2001	TPP1
19	Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins. (11001810)	Suopanki J.... Tyynela J.	2000	PPT1
20	CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. (10992246)	Heinonen O.... Copp A.	2000	PPT1, CLN5
21	Neuronal ceroid lipofuscinoses and possible pathogenic mechanism. (11001811)	Zhong N.	2000	PPT1, CLN5, CLN8
22	Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses. (11142754)	Zhong N.A.... Brown W.T.	2000	PPT1, TPP1, CLN3
23	Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3. (11001812)	Chattopadhyay S.... Pearce D.A.	2000	PPT1, TPP1, CLN3
24	Neuronal ceroid lipofuscinoses: research update. (11073228)	Wisniewski K.E.... Zhong N.	2000	PPT1, TPP1
25	The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. (10508524)	Ranta S.... Lehesjoki A.-E.	1999	BAMBI, CLN8
26	The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. (10407785)	Bennett M.J.... Hofmann S.L.	1999	PPT1, CLN3, CLN5
27	The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. (10191109)	Stephenson J.B.... Mitchison H.M.	1999	PPT1
28	Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. (10191110)	Wisniewski K.E.... Zhong N.	1999	PPT1, TPP1
29	Molecular genetics of the neuronal ceroid lipofuscinoses. (10446748)	Mole S.... Gardiner M.	1999	PPT1, TPP1, CLN3
30	Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. (10477428)	Mole S.E.... Munroe P.B.	1999	TPP1, CLN5
31	The neuronal ceroid-lipofuscinoses. Recent advances. (9458173)	Goebel H.H.... Sharp J.D.	1998	CLN3, CLN5
32	Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses. (8803767)	Mole S.E.	1996	PPT1

Genes related to neuronal ceroid-lipofuscinoses according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	CLN5	ceroid-lipofuscinosis, neuronal 5	11.1	Publications, Summaries
2	CLN6	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	11.1	Summaries, Publications
3	CLN8	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	11.1	Summaries, Publications
4	CLN3	ceroid-lipofuscinosis, neuronal 3	11.1	Summaries, Publications
5	MFSD8	major facilitator superfamily domain containing 8	11.1	Summaries, Publications
6	TPP1	tripeptidyl peptidase I	11.1	Publications
7	PPT1	palmitoyl-protein thioesterase 1	11.1	Publications
8	PSAP	prosaposin	11.1	Publications
9	CTSD	cathepsin D	11.1	Publications
10	BAMBI	BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)	11.0	Publications
11	DNAJC5	DnaJ (Hsp40) homolog, subfamily C, member 5	11.0
12	PVALB	parvalbumin	11.0	Publications
13	SLC1A3	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11.0	Publications
14	CALB2	calbindin 2	11.0	Publications

Pathways related to neuronal ceroid-lipofuscinoses according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Lysosome20	8.2	CLN5, CLN3, MFSD8, TPP1, CTSD, PPT1

Compounds related to neuronal ceroid-lipofuscinoses according to GeneDecks:

(show all 12)

id	Compound	Score	Top Affiliating Genes
1	glycosphingolipid32	9.8	PSAP, CTSD
2	cyanine32	9.6	CALB2, PVALB
3	quinolinic acid32 18	10.3	PVALB, CALB2
4	ceramide32	9.1	CLN3, CTSD, PSAP
5	silver32	9.1	PVALB, CALB2, CTSD
6	choline32 9 18 9	12.1	CALB2, PSAP, PVALB
7	mannose 6-phosphate32 18	10.0	PSAP, PPT1, CTSD, TPP1, CLN3
8	aspartate32	8.2	SLC1A3, TPP1, PVALB, CTSD
9	cysteine32	8.0	CTSD, PSAP, PPT1, DNAJC5, SLC1A3
10	glutamate32	8.0	CALB2, CTSD, PVALB, SLC1A3, CLN3
11	atp32	7.5	CLN3, SLC1A3, TPP1, CTSD, PPT1, PSAP
12	serine32	7.5	SLC1A3, PSAP, PVALB, PPT1, CTSD, TPP1

Cellular components related to neuronal ceroid-lipofuscinoses according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal membrane	GO:005765	9.3	PSAP, MFSD8, CLN3, CLN5
2	synaptic vesicle	GO:008021	9.2	DNAJC5, PPT1, CLN3
3	melanosome	GO:042470	9.2	TPP1, CTSD, DNAJC5
4	lysosomal lumen	GO:043202	9.1	TPP1, CTSD, PSAP
5	lysosome	GO:005764	8.9	CLN5, CLN3, TPP1, CTSD, PPT1

Biological processes related to neuronal ceroid-lipofuscinoses according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	ceramide metabolic process	GO:006672	9.9	CLN8, CLN3
2	cellular protein catabolic process	GO:044257	9.9	PPT1, CLN8
3	associative learning	GO:008306	9.7	PPT1, CLN8, CLN3
4	lysosome organization	GO:007040	9.7	TPP1, CLN3, CLN8
5	negative regulation of proteolysis	GO:045861	9.6	CLN3, CLN8
6	lysosomal lumen acidification	GO:007042	9.5	CLN3, CLN6, CLN5, PPT1
7	negative regulation of neuron apoptotic process	GO:043524	9.2	DNAJC5, PPT1, CLN3
8	protein catabolic process	GO:030163	9.0	TPP1, CLN8, CLN3, CLN5, CLN6, PPT1
9	neuromuscular process controlling balance	GO:050885	8.9	CLN3, CLN8, TPP1, SLC1A3
10	cell death	GO:008219	8.1	CLN3, CLN6, CLN5, MFSD8, TPP1, CTSD