Batten Disease malady

NINDS: Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.³¹

MalaCards: Batten Disease, also known as juvenile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis neuronal 8 and neuronal ceroid-lipofuscinosis. An important gene associated with Batten Disease is CLN3 (ceroid-lipofuscinosis, neuronal 3), and among its related pathways are Sulfur metabolism and Parkinsons disease. The compounds 2,6-dichloro-4-nitrophenol and 3,3-diiodothyronine have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin, and related mouse phenotype nervous system.

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

NIH Rare Diseases: Batten disease is a neurodegenerative genetic condition characterized by progressive mental and motor deterioration, seizures, and early death. Symptoms of Batten disease typically appear between the ages of four and ten years. Rapid vision loss resulting in total blindness is usually the first symptom observed. Followed by seizures which typically present between ages five and 18 years. Life expectancy generally ranges from the late teens to the 30's. Batten disease is inherited in an autosomal recessive fashion and has been associated with mutations in a gene called the CLN3.  Although a cure has not been identified for Batten disease, treatment for the symptoms is available.³⁰

Wikipedia: Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal...⁴⁴ more...

batten disease 30 16 31 32 juvenile neuronal ceroid lipofuscinosis 30 16 spielmeyer-vogt disease 30 16 ceroid lipofuscinosis, neuronal 3, juvenile 43 ceroid lipofuscinosis neuronal 3 30

neuronal ceroid lipofuscinosis 3 30 spielmeyer sjogren disease 30 vogt spielmeyer disease 30 jncl 16 cln3 30

Diseases related to batten disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 95)

id	Related Disease	Score	Top Affiliating Genes
1	ceroid lipofuscinosis neuronal 8	33.5	CLN5, CLN3, CLN8
2	neuronal ceroid-lipofuscinosis	30.6	COX4I1, PPT1, CTSD, TPP1, ATP5G3, ATP5G2
3	progressive myoclonus epilepsy	30.5	TPP1, CLN3, CLN5
4	myoclonus epilepsy	30.5	TPP1, CLN3, CLN5
5	myoclonus	30.2	CLN5, CLN3, TPP1
6	epilepsy syndrome	30.1	GAD1, PPT1, HP, CLN8, CLN5
7	ceroid lipofuscinosis	29.8	COX4I1, PPT1, CTSD, TPP1, ATP5G3, ATP5G2
8	peripheral retinal degeneration	29.5	CLN3, CLN5
9	neuronal ceroid-lipofuscinoses	29.4	PPT1, CTSD, TPP1, CLN8, CLN3, CLN6
10	cerebral atrophy	29.2	RPS27A, PPT1, TPP1, CLN8, CLN3, CLN6
11	blindness	29.0	PPT1, CYTH1, TPP1, HP, CLN8, CLN3
12	lysosomal storage disease	28.8	PPT1, CTSD, TPP1, CLN3
13	neurodegeneration	28.8	RPS27A, PPT1, CTSD, TPP1, CLN8, CLN3
14	cholesterol	28.7	GAD1, CTSD, SULT1A3, SULT1A1, HP, LAMP1
15	dementia	28.5	RPS27A, PPT1, CTSD, TPP1, HP, CLN8
16	visual seizure	28.4	TPP1, CLN8, CLN6
17	cerebritis	27.9	GAD1, RPS27A, PPT1, CTSD, SULT1A3, TPP1
18	neuronitis	27.0	TPP1, SULT1A1, CTSD, PPT1, RPS27A, COX4I1
19	seizures	27.0	GAD1, PPT1, TPP1, HP, IMMT, CLN8
20	neurodegenerative disease	26.5	RPS27A, PPT1, CTSD, TPP1, BAMBI, CLN8
21	retinitis	25.3	RPS27A, PPT1, CTSD, TPP1, IMMT, LAMP1
22	pancreatitis	24.0	SULT1A3, CTSD, RPS27A, COX4I1, GAD1, SULT1A1
23	mitochondrial complex v deficiency	13.0	ATP5G3, ATP5G2, ATP5G1
24	transient cerebral ischemia	12.2	CTSD, RPS27A, GAD1
25	hereditary cerebral hemorrhage with amyloidosis	12.2	CTSD, RPS27A
26	parkinson's disease	11.2	GAD1, COX4I1, RPS27A, CTSD, HP, ATP5G3
27	huntington's disease	11.0	GAD1, COX4I1, RPS27A, HP, IMMT, ATP5G3
28	obesity	10.8	SULT1A1, SULT1A3, CTSD, RPS27A, COX4I1, GAD1
29	alzheimer's disease	9.8	GAD1, COX4I1, RPS27A, CTSD, HP, ANK3
30	juvenile batten disease	9.7
31	malaria	9.6	ANK3, HP, SULT1A3, CTSD, RPS27A, ATP5G3
32	ceroid lipofuscinosis neuronal 10	9.5
33	neuronal ceroid-lipofuscinosis, classic late infantile	9.5
34	ceroid lipofuscinosis neuronal 2	9.1
35	ceroid lipofuscinosis neuronal 5	9.1
36	ceroid lipofuscinosis neuronal 7	9.1
37	dnajc5-related neuronal ceroid-lipofuscinosis	9.1
38	ceroid-lipofuscinosis, neuronal-6, variant late infantile	8.6
39	ceroid-lipofuscinosis, neuronal-3, juvenile	8.6
40	ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	8.6
41	ceroid lipofuscinosis, neuronal-1, infantile	8.6
42	ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits	8.6
43	autosomal dominant neuronal ceroid lipofuscinosis 4b	8.6
44	ceroid lipofuscinosis neuronal 1	8.6
45	ceroid lipofuscinosis neuronal 6	8.6
46	ceroid lipofuscinosis neuronal 9	8.6
47	ceroid-lipofuscinosis, neuronal 2, classic late infantile	8.6
48	ceroid-lipofuscinosis, neuronal-5, variant late infantile	8.6
49	autosomal recessive neuronal ceroid lipofuscinosis 4a	7.7
50	adult neuronal ceroid lipofuscinosis	6.6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to batten disease:

²²

MGI Mouse Phenotypes related to batten disease:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system phenotype	MP:0003631	7.3	CLN5, PPT1, CTSD, CYTH1, TPP1, ANK3

Articles related to batten disease:

(show top 50)    (show all 77)

id	Title	Authors	Year	Affiliating Genes
1	A knock-in reporter mouse model for Batten disease re veals predominant expression of Cln3 in visual, limbic and subcortical motor st ructures. (20875858)	Ding S.L.... Davidson B.L.	2011	CLN3
2	The yeast Batten disease orthologue Btn1 controls end osome-Golgi retrograde transport via SNARE assembly. (21987636)	Kama R.... Gerst J.E.	2011	CLN3
3	Interaction between Sdo1p and Btn1p in the Saccharomy ces cerevisiae model for Batten disease. (20015955)	Vitiello S.P.... Pearce D.A.	2010	CLN3, SBDS
4	Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease. (20346914)	Dawson G.... Dawson P.E.	2010	PPT1
5	Genotype does not predict severity of behavioural phe notype in juvenile neuronal ceroid lipofuscinosis (Batten disease). (20187884)	Adams H.R.... Mink J.W.	2010	CLN3
6	Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (19028667)	Tuxworth R.I.... Tear G.	2009	CLN3
7	The function of CLN3P, the Batten disease protein. (18688960)	Rakheja D.... Bennett M.J.	2008	CLN3
8	Moving towards therapies for juvenile Batten disease? (18400221)	Cooper J.D.	2008	CLN3
9	Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. (17963751)	Kovacs A.D.... Pearce D.A.	2008	CLN3
10	The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. (18314010)	Nugent T.... Jones D.T.	2008	CLN3
11	Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis. (17495518)	Shacka J.J.... Roth K.A.	2007	CTSD
12	A novel role of the Batten disease gene CLN3: association with BMP synthesis. (17482562)	Hobert J.A.... Dawson G.	2007	CLN3
13	Btn2, a Hook1 ortholog and potential Batten disease-related protein, mediates late endosome-Golgi protein sorting in yeast. (17101785)	Kama R.... Gerst J.E.	2007	CYTH1
14	Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. (17896996)	Rakheja D.... Bennett M.J.	2007	CLN3
15	Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. (16515873)	Narayan S.B.... Bennett M.J.	2006	CLN3
16	Batten disease: features to facilitate early diagnosi s. (16754648)	Collins J.... Adams G.G.	2006	CLN3
17	Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease. (16483786)	Kovacs A.D.... Pearce D.A.	2006	CLN3
18	Defective lysosomal arginine transport in juvenile Batten disease. (16251196)	Ramirez-Montealegre D.... Pearce D.A.	2005	CLN3
19	AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif. (15598649)	Kyttala A.... Luzio J.P.	2005	CLN3
20	Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. (15728308)	Ramirez-Montealegre D.... Pearce D.A.	2005	GAD1
21	Cell death pathways in juvenile Batten disease. (16151633)	Persaud-Sawin D.A.... Boustany R.M.	2005	CLN3
22	Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1. (15823567)	Weimer J.M.... Pearce D.A.	2005	ANK3, HOOK1
23	btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. (16291725)	Gachet Y.... Mole S.E.	2005	ATP6V1A, CLN3
24	CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease. (15240430)	Narayan S.B.... Bennett M.J.	2004	CLN3
25	Homogeneous polymerase chain reaction nucleobase quen ching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. (15269304)	Rothberg P.G.... Pearce D.A.	2004	CLN3
26	Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. (14699076)	Kyttala A.... Luzio J.P.	2004	CLN3
27	Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. (15162299)	Mantel I.... Moore A.T.	2004	CLN3
28	Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. (15349861)	Schulz A.... Boustany R.M.	2004	CLN9
29	pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease. (15075260)	Cho S.K.... Hofmann S.L.	2004	PPT1
30	Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. (15471887)	Luiro K.... Jalanko A.	2004	CLN3, HOOK1
31	Membrane topology of CLN3, the protein underlying Batten disease. (12706816)	Mao Q.... Davidson B.L.	2003	CLN3
32	A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease. (14660799)	Kim Y.... Pearce D.A.	2003	CLN3
33	Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. (12366726)	Kriscenski-Perry E.... Pearce D.A.	2002	CLN3
34	CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. (11590129)	Luiro K.... Jalanko A.	2001	CLN3, BAMBI
35	Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. (10964839)	Bensaoula T.... Milam A.H.	2000	CLN3
36	Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected (10527801)	Mitchison H.M.... Nussbaum R.L.	1999	CLN3
37	The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. (10407785)	Bennett M.J.... Hofmann S.L.	1999	PPT1, CLN3, CLN5
38	Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. (10319861)	Pearce D.A.... Sherman F.	1999	CLN3
39	A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). (10440905)	Katz M.L.... Johnson G.S.	1999	CLN3
40	Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. (9490299)	Zhong N.... Brown W.T.	1998	CLN3
41	Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. (9384607)	Jarvela I.... Jalanko A.	1998	CLN3
42	Evidence for phosphorylation of CLN3 protein associated with Batten disease. (9878558)	Michalewski M.P.... Wisniewski K.E.	1998	CLN3
43	Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs. (9590435)	Shibuya H.... Johnson G.S.	1998	CLN3
44	Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. (9391897)	Taschner P.E.... Breuning M.H.	1997	CLN3
45	Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion). (9392580)	Jarvela I.... Santavuori P.	1997	CLN3
46	Delivery of liposome-sequestered hydrophobic proteins to lysosomes of normal and Batten disease cells. (9039656)	Ansari N.H.... Srivastava S.K.	1997	RPS27A
47	A model for Batten disease protein CLN3: functional implications from homology and mutations. (8980123)	Janes R.W.... Wallace B.A.	1996	CLN3
48	Refined localization of the Batten disease gene (CLN3 ) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclus ion from this region of a variant form of Batten disease with granular osmiophi lic deposits. (7668353)	Mitchison H.M.... Thompson A.D.	1995	CLN3
49	Batten disease gene, CLN3: linkage disequilibrium map ping in the Finnish population, and analysis of European haplotypes. (7887419)	Mitchison H.M.... JAorvelAo I.E.	1995	CLN3
50	Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). (1535179)	Palmer D.N.... Jolly R.D.	1992	IMMT

Genes related to batten disease according to GeneCards:

(show all 26)

id	Symbol	Description	Score	GeneCards Section Context
1	CLN3	ceroid-lipofuscinosis, neuronal 3	11.1	Aliases & Descriptions, Domains & Families, Orthologs, Summaries (show all 5 sections) Publications
2	CLN5	ceroid-lipofuscinosis, neuronal 5	11.1	Summaries, Publications
3	CLN6	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	11.1	Publications, Summaries
4	BAMBI	BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)	11.0	Publications
5	TPP1	tripeptidyl peptidase I	11.0	Publications
6	PPT1	palmitoyl-protein thioesterase 1	11.0	Publications
7	SULT1A3	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3	11.0	Publications
8	SULT1A1	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	11.0	Publications
9	GAD1	glutamate decarboxylase 1 (brain, 67kDa)	11.0	Publications
10	CTSD	cathepsin D	11.0	Publications
11	HP	haptoglobin	11.0	Publications
12	CLN9	ceroid-lipofuscinosis, neuronal 9	11.0	Publications
13	ATP5G3	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	11.0	Publications, UniProt Related
14	ATP5G2	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	11.0	UniProt Related
15	ATP5G1	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	11.0	UniProt Related
16	SBDS	Shwachman-Bodian-Diamond syndrome	11.0	Publications
17	CLN8	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	11.0	Publications
18	HOOK1	hook homolog 1 (Drosophila)	11.0	Publications
19	COX4I1	cytochrome c oxidase subunit IV isoform 1	11.0	Publications
20	ATP2A1	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	11.0	Publications
21	ATP6V1A	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	11.0	Publications
22	LAMP1	lysosomal-associated membrane protein 1	11.0	Publications
23	IMMT	inner membrane protein, mitochondrial	11.0	Publications
24	CYTH1	cytohesin 1	11.0	Publications
25	RPS27A	ribosomal protein S27a	11.0	Publications
26	ANK3	ankyrin 3, node of Ranvier (ankyrin G)	11.0	Publications

Pathways related to batten disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Sulfur metabolism20	10.1	SULT1A1, SULT1A3
2	Parkinsons disease20	9.3	ATP5G2, ATP5G3, COX4I1, ATP5G1
3	Lysosome20	9.3	CLN5, CLN3, LAMP1, TPP1, CTSD, PPT1
4	Huntingtons disease20	9.1	ATP5G1, ATP5G2, COX4I1, ATP5G3
5	Oxidative phosphorylation20	9.0	ATP6V1A, ATP5G1, ATP5G2, ATP5G3, COX4I1
6	Alzheimers disease20	9.0	ATP5G1, COX4I1, ATP5G3, ATP5G2, ATP2A1

Compounds related to batten disease according to GeneDecks:

(show all 16)

id	Compound	Score	Top Affiliating Genes
1	2,6-dichloro-4-nitrophenol32	10.3	SULT1A1, SULT1A3
2	3,3-diiodothyronine32	10.2	SULT1A1, SULT1A3
3	2-naphthol32	10.2	SULT1A1, SULT1A3
4	mefenamic acid32 9 9	12.2	SULT1A1, SULT1A3
5	hind iii32	10.1	HP, SULT1A1, SULT1A3
6	3-phosphoadenosine 5-phosphate32	10.1	SULT1A1, SULT1A3
7	phenol32 18	11.1	SULT1A3, SULT1A1, CTSD
8	minoxidil32 9 9	11.8	SULT1A3, SULT1A1
9	mannose 6-phosphate32 18	10.6	LAMP1, PPT1, CTSD, TPP1, CLN3
10	levodopa32 9 9	11.3	GAD1, RPS27A, SULT1A3, SULT1A1
11	chloroquine32 34 9 9	12.2	HP, CTSD, RPS27A
12	hampshire32	9.2	RPS27A, CYTH1
13	aspirin32 34 18	11.0	HP, SULT1A1, SULT1A3, RPS27A
14	aspartate32	8.9	GAD1, RPS27A, CTSD, TPP1, HP, SULT1A3
15	lipid32	7.7	COX4I1, CLN3, CLN8, ATP2A1, PPT1, CYTH1
16	atp32	7.6	TPP1, ATP2A1, IMMT, HP, CTSD, PPT1

Cellular components related to batten disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial proton-transporting ATP synthase complex	GO:005753	9.7	ATP5G3, ATP5G2, ATP5G1
2	proton-transporting ATP synthase complex, coupling factor F(o)	GO:045263	9.4	ATP5G2, ATP5G1, ATP5G3
3	lysosome	GO:005764	9.1	TPP1, CLN5, CLN3, LAMP1, PPT1, CTSD

Biological processes related to batten disease according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal lumen acidification	GO:007042	10.0	CLN5, CLN6, CLN3, PPT1
2	cellular protein catabolic process	GO:044257	10.0	CLN8, PPT1
3	associative learning	GO:008306	9.8	CLN8, PPT1, CLN3
4	neuromuscular process controlling balance	GO:050885	9.8	CLN3, CLN8, TPP1
5	ATP synthesis coupled proton transport	GO:015986	9.7	ATP5G3, ATP5G2
6	lysosome organization	GO:007040	9.6	CLN8, HOOK1, TPP1, CLN3
7	protein catabolic process	GO:030163	9.6	PPT1, CLN6, CLN5, CLN3, CLN8, TPP1
8	cell death	GO:008219	9.5	CTSD, TPP1, CLN8, CLN3, CLN6, CLN5
9	ATP hydrolysis coupled proton transport	GO:015991	9.4	ATP5G3, ATP6V1A, ATP5G1, ATP5G2

Molecular functions related to batten disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hydrogen ion transmembrane transporter activity	GO:015078	9.7	ATP5G1, ATP5G2, ATP5G3