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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:West syndrome
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Accession:DOID:0050562 term browser browse the term
Definition:An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)
Synonyms:exact_synonym: Cryptogenic Infantile Spasm;   Cryptogenic West Syndrome;   Hypsarrhythmia;   Infantile Spasm;   Infantile Spasms;   Jackknife Seizure;   Jackknife Seizures;   Lightning Attack;   Lightning Attacks;   Nodding Spasm;   Nodding Spasms;   Salaam Attacks;   Salaam Seizures;   Spasmus Nutans;   Symptomatic Infantile Spasm;   cryptogenic infantile spasms;   hypsarrhythmias;   symptomatic West syndrome;   symptomatic infantile spasms
 narrow_synonym: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT;   EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE;   Neonatal encephalopathy with seizures
 related_synonym: Infantile spasms syndrome
 primary_id: MESH:D013036
 alt_id: OMIA:001471
 xref: GARD:7887;   NCI:C84788;   ORDO:3451


show annotations for term's descendants           Sort by:
West syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP RGD PMID:24321005 RGD:9588540 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Arx aristaless related homeobox ISO RGD PMID:19439424 RGD:11565833 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome ClinVar PMID:16330482 PMID:16813600 PMID:18414213 PMID:18790821 PMID:19362436 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased expression:brain (rat) RGD PMID:24994451 RGD:11570411 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11341487 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:22662185 PMID:28492532 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919904 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:22275249 PMID:23692823 PMID:24318194 PMID:24759409 PMID:25741868 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Mast4 microtubule associated serine/threonine kinase family member 4 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar NCBI chr 2:33,893,241...34,483,682
Ensembl chr 2:33,894,436...34,483,723 		JBrowse link
G Mc2r melanocortin 2 receptor ISO DNA:snps:promoter:multiple (human) RGD PMID:19024088 RGD:6484693 NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488 		JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:9536098 PMID:17576681 PMID:25262651 PMID:25741868 PMID:28492532 NCBI chr 1:240,090,854...240,245,007
Ensembl chr 1:240,093,065...240,204,828 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 More... NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome ClinVar PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome ClinVar PMID:18414213 PMID:19786696 PMID:20956790 PMID:23550958 PMID:23708187 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: West syndrome ClinVar PMID:12374766 PMID:17881658 PMID:22365152 PMID:25326635 PMID:25326637 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome		 ClinVar
RGD		 PMID:18414213 PMID:20887364 PMID:21193638 PMID:22612257 PMID:23934111 More... RGD:12903963 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hypsarrhythmia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 PMID:26130693 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 PMID:32001716 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18853477 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: West syndrome		 ClinVar PMID:16199547 PMID:24456803 PMID:25411445 PMID:25741868 PMID:28492532 More... NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISS
ISO		 OMIM:310600
ClinVar Annotator: match by term: Fetal iritis syndrome		 MouseDO
ClinVar		 PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO
ISS		 ClinVar Annotator: match by term: Atrophia bulborum hereditaria
OMIM:310600
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome ClinVar PMID:25741868 PMID:26917597 PMID:28492532 NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      infancy electroclinical syndrome 112
        West syndrome 37
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          Norrie disease 4
          PEHO syndrome 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            epilepsy 2802
              electroclinical syndrome 1351
                infancy electroclinical syndrome 112
                  West syndrome 37
                    Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                    Norrie disease 4
                    PEHO syndrome 4
paths to the root