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ONTOLOGY REPORT - ANNOTATIONS


Term:neuronal ceroid lipofuscinosis
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Accession:DOID:14503 term browser browse the term
Definition:A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Synonyms:exact_synonym: Amaurotic Idiocy, Adult Type;   Batten Mayou Disease;   Ceroid Lipofuscinosis, Neuronal 4;   Ceroid Storage Disease;   Ceroid Storage Diseases;   Infantile Neuronal Ceroid Lipofuscinosis;   Jansky Bielschowsky Disease;   Juvenile Cerebroretinal Degeneration;   Juvenile Cerebroretinal Degenerations;   Kuf Disease;   Kuf's Diseases;   Kuf's disease;   Kufs Disease Autosomal Recessive;   Kufs Type Neuronal Ceroid Lipofuscinosis;   Kufs disease;   Late-Infantile Neuronal Ceroid Lipofuscinosis;   Lipofuscin Storage Disease;   adult neuronal ceroid lipofuscinosis;   hereditary ceroid lipofuscinosis;   lipofuscin storage diseases;   neuronal ceroid lipofuscinoses;   neuronal ceroid lipofuscinosis, adult type
 narrow_synonym: Neuronal ceroid lipofuscinosis, 12
 primary_id: MESH:D009472
 alt_id: OMIA:001503;   OMIA:001552;   RDO:0003873
 xref: GARD:10739;   NCI:C61257;   OMIM:PS256730;   ORDO:216;   ORDO:79262
For additional species annotation, visit the Alliance of Genome Resources.


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neuronal ceroid lipofuscinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 JBrowse link 1 214,534,217 214,607,497 RGD:8554872
G Apbb1 amyloid beta precursor protein binding family B member 1 JBrowse link 1 170,387,625 170,411,263 RGD:8554872
G Apobr apolipoprotein B receptor JBrowse link 1 197,999,209 198,003,839 RGD:8554872
G Arfip2 ADP-ribosylation factor interacting protein 2 JBrowse link 1 170,464,995 170,471,138 RGD:8554872
G Ascl2 achaete-scute family bHLH transcription factor 2 JBrowse link 1 216,154,002 216,156,409 RGD:8554872
G Atp13a2 ATPase cation transporting 13A2 JBrowse link 5 159,512,208 159,531,631 RGD:11554173
G Brsk2 BR serine/threonine kinase 2 JBrowse link 1 214,918,757 214,940,883 RGD:8554872
G Cavin3 caveolae associated protein 3 JBrowse link 1 170,317,099 170,318,688 RGD:8554872
G Cckbr cholecystokinin B receptor JBrowse link 1 170,262,218 170,272,298 RGD:8554872
G Cd151 CD151 molecule (Raph blood group) JBrowse link 1 214,446,659 214,450,668 RGD:8554872
G Cd81 Cd81 molecule JBrowse link 1 216,237,663 216,253,460 RGD:8554872
G Cdhr5 cadherin-related family member 5 JBrowse link 1 214,255,118 214,263,848 RGD:8554872
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:8554872
G Cend1 cell cycle exit and neuronal differentiation 1 JBrowse link 1 214,407,072 214,410,069 RGD:8554872
G Chid1 chitinase domain containing 1 JBrowse link 1 214,476,418 214,511,569 RGD:8554872
G Clcn3 chloride voltage-gated channel 3 JBrowse link 16 32,448,821 32,520,649 RGD:734783
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 1 197,986,384 197,999,726 RGD:11554173
RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cln6 CLN6, transmembrane ER protein JBrowse link 8 67,733,215 67,748,170 RGD:1358512
RGD:8554872
RGD:11064442
RGD:11554173
G Cln8 CLN8, transmembrane ER and ERGIC protein JBrowse link 16 79,828,321 79,838,212 RGD:8554872
G Cnga4 cyclic nucleotide gated channel subunit alpha 4 JBrowse link 1 170,238,959 170,246,858 RGD:8554872
G Cracr2b calcium release activated channel regulator 2B JBrowse link 1 214,439,810 214,445,876 RGD:8554872
G Ctsd cathepsin D JBrowse link 1 215,541,570 215,553,446 RGD:8554872
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:8554872
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 JBrowse link 3 177,012,714 177,047,787 RGD:8554872
G Dnhd1 dynein heavy chain domain 1 JBrowse link 1 170,473,792 170,570,220 RGD:8554872
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:8554872
G Dusp8 dual specificity phosphatase 8 JBrowse link 1 215,030,429 215,043,111 RGD:8554872
G Eps8l2 EPS8-like 2 JBrowse link 1 214,327,992 214,353,466 RGD:8554872
G Fam160a2 family with sequence similarity 160, member A2 JBrowse link 1 170,216,505 170,238,898 RGD:8554872
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 JBrowse link 1 214,389,006 214,394,451 RGD:8554872
G Hpx hemopexin JBrowse link 1 170,423,558 170,431,066 RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Hspa5 heat shock protein family A (Hsp70) member 5 JBrowse link 3 13,838,304 13,842,763 RGD:5686293
G Ifitm10 interferon induced transmembrane protein 10 JBrowse link 1 215,521,604 215,538,283 RGD:8554872
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:8554872
G Il27 interleukin 27 JBrowse link 1 198,003,615 198,010,112 RGD:8554872
G Ilk integrin-linked kinase JBrowse link 1 170,578,941 170,585,192 RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:8554872
G Irf7 interferon regulatory factor 7 JBrowse link 1 214,249,388 214,252,909 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Krtap5-1 keratin associated protein 5-1 JBrowse link 1 215,126,994 215,127,583 RGD:8554872
G Lmntd2 lamin tail domain containing 2 JBrowse link 1 214,197,126 214,202,828 RGD:8554872
G LOC686660 similar to olfactory receptor 692 JBrowse link 1 170,205,323 170,206,774 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Lsp1 lymphocyte-specific protein 1 JBrowse link 1 215,628,750 215,662,505 RGD:8554872
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:8554872
G Mir210 microRNA 210 JBrowse link 1 214,208,355 214,208,464 RGD:8554872
G Mob2 MOB kinase activator 2 JBrowse link 1 214,953,992 214,962,106 RGD:8554872
G Mrpl23 mitochondrial ribosomal protein L23 JBrowse link 1 215,701,544 215,709,313 RGD:8554872
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:8554872
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link 1 214,725,482 214,756,653 RGD:8554872
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link 1 214,778,459 214,811,237 RGD:8554872
G Muc6 mucin 6, oligomeric mucus/gel-forming JBrowse link 1 214,608,453 214,630,524 RGD:8554872
G Nupr1 nuclear protein 1, transcriptional regulator JBrowse link 1 194,767,484 194,769,519 RGD:8554872
G Olr158 olfactory receptor 158 JBrowse link 1 169,636,914 169,637,873 RGD:8554872
G Olr163 olfactory receptor 163 JBrowse link 1 169,698,323 169,699,288 RGD:8554872
G Olr170 olfactory receptor 170 RGD:8554872
G Olr172 olfactory receptor 172 RGD:8554872
G Olr180 olfactory receptor 180 JBrowse link 1 169,855,777 169,856,727 RGD:8554872
G Olr184 olfactory receptor 184 JBrowse link 1 169,902,961 169,903,914 RGD:8554872
G Olr188 olfactory receptor 188 JBrowse link 1 169,944,609 169,945,547 RGD:8554872
G Olr190 olfactory receptor 190 JBrowse link 1 169,966,190 169,967,137 RGD:8554872
G Olr193 olfactory receptor 193 JBrowse link 1 170,004,634 170,005,597 RGD:8554872
G Olr194 olfactory receptor 194 JBrowse link 1 170,033,942 170,034,892 RGD:8554872
G Olr197 olfactory receptor 197 JBrowse link 1 170,091,109 170,092,062 RGD:8554872
G Olr198 olfactory receptor 198 JBrowse link 1 170,109,291 170,110,256 RGD:8554872
G Olr202 olfactory receptor 202 JBrowse link 1 170,185,494 170,186,462 RGD:8554872
G Phrf1 PHD and ring finger domains 1 JBrowse link 1 214,215,673 214,248,906 RGD:8554872
G Pidd1 p53-induced death domain protein 1 JBrowse link 1 214,418,751 214,423,959 RGD:8554872
G Pnpla2 patatin-like phospholipase domain containing 2 JBrowse link 1 214,434,638 214,439,720 RGD:8554872
G Polr2l RNA polymerase II, I and III subunit L JBrowse link 1 214,451,966 214,453,974 RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:8554872
G Ppt2 palmitoyl-protein thioesterase 2 JBrowse link 20 4,381,455 4,401,638 RGD:734785
RGD:13592920
G Rassf7 Ras association domain family member 7 JBrowse link 1 214,202,722 214,205,799 RGD:8554872
G RGD1561034 similar to hypothetical protein MGC34805 JBrowse link 1 170,212,817 170,216,387 RGD:8554872
G Rplp2 ribosomal protein lateral stalk subunit P2 JBrowse link 1 214,428,280 214,430,551 RGD:8554872
G Rrp8 ribosomal RNA processing 8 JBrowse link 1 170,574,670 170,578,693 RGD:8554872
G Sct secretin JBrowse link 1 214,264,865 214,277,437 RGD:8554872
G Sgf29 SAGA complex associated factor 29 JBrowse link 1 198,066,974 198,100,494 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:1581253
G Syt8 synaptotagmin 8 JBrowse link 1 215,605,408 215,607,602 RGD:8554872
G Taf10 TATA-box binding protein associated factor 10 JBrowse link 1 170,585,160 170,586,428 RGD:8554872
G Taldo1 transaldolase 1 JBrowse link 1 214,375,555 214,385,886 RGD:8554872
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:8554872
G Timm10b translocase of inner mitochondrial membrane 10B JBrowse link 1 170,471,265 170,474,111 RGD:8554872
G Tmem80 transmembrane protein 80 JBrowse link 1 214,317,300 214,326,293 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Tollip toll interacting protein JBrowse link 1 214,823,993 214,844,861 RGD:8554872
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:11554173
RGD:8554872
G Trim3 tripartite motif-containing 3 JBrowse link 1 170,441,662 170,464,341 RGD:8554872
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 JBrowse link 1 216,256,653 216,281,504 RGD:8554872
G Tspan32 tetraspanin 32 JBrowse link 1 216,189,535 216,206,202 RGD:8554872
G Tspan4 tetraspanin 4 JBrowse link 1 214,454,090 214,473,789 RGD:8554872
G Tssc4 tumor suppressing subtransferable candidate 4 JBrowse link 1 216,253,786 216,256,610 RGD:8554872
neuronal ceroid lipofuscinosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fis1 fission, mitochondrial 1 JBrowse link 12 22,750,485 22,765,324 RGD:11554173
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Mfn1 mitofusin 1 JBrowse link 2 118,929,738 118,971,689 RGD:11554173
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:11554173
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:7240710
RGD:8554872
RGD:11554173
RGD:734785
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link 10 73,824,200 73,865,503 RGD:11554173
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:11554173
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:11554173
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:11554173
neuronal ceroid lipofuscinosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsd cathepsin D JBrowse link 1 215,541,570 215,553,446 RGD:7240710
RGD:8554872
neuronal ceroid lipofuscinosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:7240710
RGD:8554872
neuronal ceroid lipofuscinosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsf cathepsin F JBrowse link 1 220,114,228 220,119,976 RGD:7240710
RGD:8554872
neuronal ceroid lipofuscinosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:7240710
RGD:8554872
neuronal ceroid lipofuscinosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn3 chloride voltage-gated channel 3 JBrowse link 16 32,448,821 32,520,649 RGD:13592920
G Clcn6 chloride voltage-gated channel 6 JBrowse link 5 164,811,815 164,844,554 RGD:13592920
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 1 197,986,384 197,999,726 RGD:7240710
RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:13592920
neuronal ceroid lipofuscinosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cln6 CLN6, transmembrane ER protein JBrowse link 8 67,733,215 67,748,170 RGD:7240710
neuronal ceroid lipofuscinosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 JBrowse link 3 177,012,714 177,047,787 RGD:7240710
RGD:8554872
neuronal ceroid lipofuscinosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
RGD:7240710
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
neuronal ceroid lipofuscinosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cln6 CLN6, transmembrane ER protein JBrowse link 8 67,733,215 67,748,170 RGD:7240710
RGD:8554872
RGD:11554173
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:11554173
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:11554173
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:11554173
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:8554872
G Stx6 syntaxin 6 JBrowse link 13 72,804,218 72,850,757 RGD:11554173
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:11554173
neuronal ceroid lipofuscinosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd18 abhydrolase domain containing 18 JBrowse link 2 127,770,588 127,828,218 RGD:8554872
G Larp1b La ribonucleoprotein 1B JBrowse link 2 127,845,034 127,876,793 RGD:8554872
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:7240710
RGD:8554872
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:8554872
neuronal ceroid lipofuscinosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cln8 CLN8, transmembrane ER and ERGIC protein JBrowse link 16 79,828,321 79,838,212 RGD:7240710
RGD:8554872
neuronal ceroid lipofuscinosis 8 northern epilepsy variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cln8 CLN8, transmembrane ER and ERGIC protein JBrowse link 16 79,828,321 79,838,212 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Nutritional and Metabolic Diseases 4632
      disease of metabolism 4632
        lipid metabolism disorder 882
          lipid storage disease 462
            neuronal ceroid lipofuscinosis 119
              neuronal ceroid lipofuscinosis 1 10
              neuronal ceroid lipofuscinosis 10 1
              neuronal ceroid lipofuscinosis 11 1
              neuronal ceroid lipofuscinosis 13 1
              neuronal ceroid lipofuscinosis 2 1
              neuronal ceroid lipofuscinosis 3 4
              neuronal ceroid lipofuscinosis 4A 1
              neuronal ceroid lipofuscinosis 4B 1
              neuronal ceroid lipofuscinosis 5 2
              neuronal ceroid lipofuscinosis 6 7
              neuronal ceroid lipofuscinosis 7 4
              neuronal ceroid lipofuscinosis 8 1
              neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
              neuronal ceroid lipofuscinosis 9 0
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          inherited metabolic disorder 2177
            lipid metabolism disorder 882
              lipid storage disease 462
                neuronal ceroid lipofuscinosis 119
                  neuronal ceroid lipofuscinosis 1 10
                  neuronal ceroid lipofuscinosis 10 1
                  neuronal ceroid lipofuscinosis 11 1
                  neuronal ceroid lipofuscinosis 13 1
                  neuronal ceroid lipofuscinosis 2 1
                  neuronal ceroid lipofuscinosis 3 4
                  neuronal ceroid lipofuscinosis 4A 1
                  neuronal ceroid lipofuscinosis 4B 1
                  neuronal ceroid lipofuscinosis 5 2
                  neuronal ceroid lipofuscinosis 6 7
                  neuronal ceroid lipofuscinosis 7 4
                  neuronal ceroid lipofuscinosis 8 1
                  neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
                  neuronal ceroid lipofuscinosis 9 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.