Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:neuronal ceroid lipofuscinosis 1
go back to main search page
Accession:DOID:0110721 term browser browse the term
Definition:A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: CLN1;   INCL;   Santavuori disease;   Santavuori-Haltia disease;   infantile neuronal ceroid lipofuscinosis (INCL);   neuronal ceroid lipofuscinosis 1, infantile;   neuronal ceroid lipofuscinosis 1, variable age of onset;   neuronal ceroid lipofuscinosis, infantile;   neuronal ceroid lipofuscinosis, infantile Finnish type
 primary_id: MESH:C564953
 alt_id: MESH:C537948;   OMIA:001504;   OMIM:256730
 xref: GARD:1219;   ORDO:228329
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
neuronal ceroid lipofuscinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fis1 fission, mitochondrial 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Mfn1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:256730
OMIM
ClinVar
CTD
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10191109 PMID:10416973 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11520175 PMID:11589012 PMID:12125808 PMID:12382155 PMID:12796825 PMID:12855696 PMID:14997939 PMID:15464427 PMID:15965709 PMID:16199547 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:17576681 PMID:18414213 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:21224254 PMID:21228398 PMID:21499717 PMID:21704547 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24033266 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26075876 PMID:26275418 PMID:26467025 PMID:26510000 PMID:26707855 PMID:27722792 PMID:28166811 PMID:28492532 PMID:28559085 PMID:28878621 PMID:29631617 PMID:29655203 PMID:30541466, PMID:11717424 RGD:734785 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        lipid metabolism disorder 990
          lipid storage disease 533
            neuronal ceroid lipofuscinosis 179
              neuronal ceroid lipofuscinosis 1 10
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            lipid metabolism disorder 990
              lipid storage disease 533
                neuronal ceroid lipofuscinosis 179
                  neuronal ceroid lipofuscinosis 1 10
paths to the root