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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:hepatic encephalopathy
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Accession:DOID:13413 term browser browse the term
Definition:A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)
Synonyms:exact_synonym: Fulminant Hepatic Failure with Cerebral Edema;   Hepatic Encephalopathies;   Hepatic Stupor;   Hepatic Stupors;   Hepatocerebral Encephalopathies;   Hepatocerebral Encephalopathy;   Portal Systemic Encephalopathy;   Portal-Systemic Encephalopathies;   Portosystemic Encephalopathies;   Portosystemic Encephalopathy
 primary_id: MESH:D006501
 alt_id: RDO:0005772
 xref: GARD:10452;   ICD10CM:K72;   ICD9CM:572.2;   NCI:C79596
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Epor erythropoietin receptor IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 IEP
ISO
mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 IEP
ISO
mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 IEP
ISO
mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gc GC, vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11510020, PMID:11521994 RGD:5509929 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23670786 RGD:10766445 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Insr insulin receptor IEP protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767, PMID:10206825, PMID:10564534 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Nos1 nitric oxide synthase 1 IEP
ISO
protein:increased expression:neocortex
CTD Direct Evidence: marker/mechanism
protein:increased expression:brain
CTD PMID:10206825, PMID:10564534, PMID:17083474, PMID:19763802 RGD:1642151, RGD:5132590 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP RGD PMID:21575628 RGD:5688266 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492, PMID:16338762 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825, PMID:10564534 NCBI chr 7:124,460,358...124,470,610
Ensembl chr 7:124,460,358...124,470,609
JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar Annotator: match by OMIM:609060
OMIM
ClinVar
PMID:15537906, PMID:17160893, PMID:21119709, PMID:21986555, PMID:22277967, PMID:24033266, PMID:25741868, PMID:25852744, PMID:28216230, PMID:28492532, PMID:30311386, PMID:32313153 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514
JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by OMIM:617156 ClinVar
OMIM
PMID:27448789 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO
IMP
ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3
OMIM
ClinVar
PMID:9175742, PMID:11687800, PMID:11983456, PMID:12205643, PMID:12210798, PMID:15887277, PMID:16908739, PMID:17073823, PMID:17452231, PMID:22622127, PMID:23043144, PMID:25131622, PMID:25741868, PMID:26874653, PMID:28492532, PMID:30404003, PMID:31127938 RGD:15039296, RGD:15039214 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:251880 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      hepatic encephalopathy 34
        combined oxidative phosphorylation deficiency 1 5
        hepatic coma 0
        mitochondrial DNA depletion syndrome 15 1
        mitochondrial DNA depletion syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        hepatobiliary disease 2484
          liver disease 2392
            Hepatic Insufficiency 139
              Liver Failure 128
                hepatic encephalopathy 34
                  combined oxidative phosphorylation deficiency 1 5
                  hepatic coma 0
                  mitochondrial DNA depletion syndrome 15 1
                  mitochondrial DNA depletion syndrome 3 3
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.