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	hepatic encephalopathy

Disease ID	922
Disease	hepatic encephalopathy
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)
Synonym	coma hepaticum enceph hepatic enceph hepatocerebral enceph portal systemic enceph portosystemic encephalopathies, hepatic encephalopathies, hepatocerebral encephalopathies, portal-systemic encephalopathies, portosystemic encephalopathy - hepatic encephalopathy hepatic encephalopathy portosystemic encephalopathy, hepatic encephalopathy, hepatocerebral encephalopathy, portal systemic encephalopathy, portal-systemic encephalopathy, portosystemic gaustad's syndrome he - hepatic encephalopathy hepatic coma/encephalopathy hepatic enceph hepatic encephalopathies hepatic encephalopathy (disorder) hepatic encephalopathy [disease/finding] hepatocerebral enceph hepatocerebral encephalopathies hepatocerebral encephalopathy hepatocerebral encephalopathy (disorder) hepatocerebral encephalopathy -retired- hepatocerebral syndrome portacaval encephalopathy portal systemic enceph portal systemic encephalopathy portal systemic encephalopathy (disorder) portal-systemic encephalopathies portal-systemic encephalopathy portosystemic enceph portosystemic encephalopathies portosystemic encephalopathy transient hepatargy syndrome
DOID	DOID:13413
UMLS	C0019151
MeSH	D006501
SNOMED-CT	SNOMEDCT_US_2016_09_01:449902003;SNOMEDCT_US_2016_09_01:13920009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:46) C0023890 \| cirrhosis \| 40 C0023890 \| liver cirrhosis \| 27 C0023895 \| liver disease \| 15 C0019158 \| hepatitis \| 5 C0020538 \| hypertension \| 5 C0020541 \| portal hypertension \| 4 C0023890 \| cirrhosis of liver \| 4 C1527311 \| brain edema \| 3 C0011847 \| diabetes \| 2 C0085543 \| epilepsia partialis continua \| 1 C0011860 \| type 2 diabetes mellitus \| 1 C0856761 \| budd-chiari syndrome \| 1 C0024117 \| chronic obstructive pulmonary disease \| 1 C0019202 \| hepatocerebral degeneration \| 1 C1527311 \| brain oedema \| 1 C0023890 \| cirrhosis liver \| 1 C0015230 \| rash \| 1 C0151740 \| elevated intracranial pressure \| 1 C0024115 \| pulmonary disease \| 1 C0600260 \| obstructive pulmonary disease \| 1 C0037280 \| infestation \| 1 C0039445 \| rendu-osler-weber disease \| 1 C0032285 \| pneumonitis \| 1 C0008312 \| biliary cirrhosis \| 1 C0023794 \| lipidosis \| 1 C0175683 \| citrullinemia \| 1 C0162429 \| malnutrition \| 1 C0011860 \| type 2 diabetes \| 1 C0016977 \| biliary disease \| 1 C0024117 \| chronic obstructive pulmonary disease (copd) \| 1 C0023891 \| alcoholic cirrhosis \| 1 C0011849 \| diabetes mellitus \| 1 C0085293 \| hepatitis e \| 1 C0006112 \| metabolic encephalopathy \| 1 C0042721 \| viral hepatitis \| 1 C0008312 \| primary biliary cirrhosis \| 1 C0679466 \| cognitive deficits \| 1 C0039445 \| osler-weber-rendu disease \| 1 C0042345 \| varices \| 1 C0014544 \| epilepsia \| 1 C0154671 \| cerebral degeneration \| 1 C0151740 \| intracranial hypertension \| 1 C0014867 \| esophageal varices \| 1 C0020532 \| hypersplenism \| 1 C0038220 \| status epilepticus \| 1 C0023891 \| alcoholic liver cirrhosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 7124 \| TNF \| CTD_human 4842 \| NOS1 \| CTD_human 4129 \| MAOB \| CTD_human 2752 \| GLUL \| CTD_human 4128 \| MAOA \| CTD_human 5591 \| PRKDC \| CTD_human 2554 \| GABRA1 \| CTD_human 2638 \| GC \| CTD_human 4988 \| OPRM1 \| CTD_human 2566 \| GABRG2 \| CTD_human 4049 \| LTA \| CTD_human 706 \| TSPO \| CTD_human 2560 \| GABRB1 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:90) 31 \| ACACA \| 2.272 \| DISEASES 37 \| ACADVL \| 2.148 \| DISEASES 65057 \| ACD \| 1.036 \| DISEASES 55331 \| ACER3 \| 1.602 \| DISEASES 131 \| ADH7 \| 1.08 \| DISEASES 174 \| AFP \| 3.048 \| DISEASES 197 \| AHSG \| 1.155 \| DISEASES 199 \| AIF1 \| 1.207 \| DISEASES 229 \| ALDOB \| 1.32 \| DISEASES 91056 \| AP5B1 \| 1.599 \| DISEASES 361 \| AQP4 \| 2.194 \| DISEASES 551 \| AVP \| 2.548 \| DISEASES 554 \| AVPR2 \| 1.48 \| DISEASES 85316 \| BAGE5 \| 1.032 \| DISEASES 617 \| BCS1L \| 1.131 \| DISEASES 627 \| BDNF \| 1.521 \| DISEASES 26580 \| BSCL2 \| 1.842 \| DISEASES 801 \| CALM1 \| 1.2 \| DISEASES 885 \| CCK \| 1.683 \| DISEASES 9332 \| CD163 \| 1.039 \| DISEASES 959 \| CD40LG \| 1.964 \| DISEASES 26586 \| CKAP2 \| 1.066 \| DISEASES 22802 \| CLCA4 \| 1.092 \| DISEASES 7122 \| CLDN5 \| 1.062 \| DISEASES 1268 \| CNR1 \| 1.786 \| DISEASES 1269 \| CNR2 \| 1.048 \| DISEASES 1524 \| CX3CR1 \| 1.324 \| DISEASES 1622 \| DBI \| 3.375 \| DISEASES 1743 \| DLST \| 1.894 \| DISEASES 1892 \| ECHS1 \| 1.352 \| DISEASES 23644 \| EDC4 \| 2.174 \| DISEASES 5169 \| ENPP3 \| 1.175 \| DISEASES 51466 \| EVL \| 1.677 \| DISEASES 2152 \| F3 \| 2.839 \| DISEASES 2153 \| F5 \| 1.221 \| DISEASES 2155 \| F7 \| 1.915 \| DISEASES 2170 \| FABP3 \| 2.745 \| DISEASES 122786 \| FRMD6 \| 1.151 \| DISEASES 2535 \| FZD2 \| 1.015 \| DISEASES 2638 \| GC \| 2.502 \| DISEASES 2641 \| GCG \| 2.887 \| DISEASES 151306 \| GPBAR1 \| 1.881 \| DISEASES 2902 \| GRIN1 \| 1.559 \| DISEASES 2903 \| GRIN2A \| 2.084 \| DISEASES 2994 \| GYPB \| 3.026 \| DISEASES 3030 \| HADHA \| 4.22 \| DISEASES 3032 \| HADHB \| 2.023 \| DISEASES 3055 \| HCK \| 1.43 \| DISEASES 3363 \| HTR7 \| 2.967 \| DISEASES 3586 \| IL10 \| 1.646 \| DISEASES 133396 \| IL31RA \| 2.243 \| DISEASES 81618 \| ITM2C \| 1.527 \| DISEASES 3766 \| KCNJ10 \| 2.011 \| DISEASES 8284 \| KDM5D \| 1.145 \| DISEASES 81562 \| LMAN2L \| 1.604 \| DISEASES 10046 \| MAMLD1 \| 1.128 \| DISEASES 4128 \| MAOA \| 2.74 \| DISEASES 4129 \| MAOB \| 1.732 \| DISEASES 4133 \| MAP2 \| 1.886 \| DISEASES 7867 \| MAPKAPK3 \| 1.505 \| DISEASES 4137 \| MAPT \| 1.907 \| DISEASES 4520 \| MTF1 \| 1.729 \| DISEASES 654364 \| NME1-NME2 \| 1.284 \| DISEASES 4842 \| NOS1 \| 3.012 \| DISEASES 27035 \| NOX1 \| 1.029 \| DISEASES 124056 \| NOXO1 \| 1.71 \| DISEASES 9971 \| NR1H4 \| 1.104 \| DISEASES 23022 \| PALLD \| 1.015 \| DISEASES 5208 \| PFKFB2 \| 1.56 \| DISEASES 5209 \| PFKFB3 \| 1.756 \| DISEASES 3276 \| PRMT1 \| 1.636 \| DISEASES 9050 \| PSTPIP2 \| 1.798 \| DISEASES 5928 \| RBBP4 \| 1.066 \| DISEASES 57127 \| RHBG \| 2.992 \| DISEASES 6016 \| RIT1 \| 1.365 \| DISEASES 123228 \| SENP8 \| 1.117 \| DISEASES 462 \| SERPINC1 \| 1.64 \| DISEASES 57468 \| SLC12A5 \| 1.688 \| DISEASES 10165 \| SLC25A13 \| 4.184 \| DISEASES 81539 \| SLC38A1 \| 1.373 \| DISEASES 6540 \| SLC6A13 \| 1.934 \| DISEASES 6533 \| SLC6A6 \| 2.503 \| DISEASES 6654 \| SOS1 \| 2.571 \| DISEASES 6345 \| SRL \| 1.479 \| DISEASES 7018 \| TF \| 1.723 \| DISEASES 7124 \| TNF \| 2.79 \| DISEASES 79626 \| TNFAIP8L2 \| 1.395 \| DISEASES 7133 \| TNFRSF1B \| 1.167 \| DISEASES 706 \| TSPO \| 4.644 \| DISEASES 7432 \| VIP \| 1.635 \| DISEASES
Locus	(Waiting for update.)

Disease ID	922
Disease	hepatic encephalopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:52) HP:0001394 \| Hepatic cirrhosis \| 38 HP:0001399 \| Liver failure \| 31 HP:0006554 \| Acute hepatic failure \| 12 HP:0100543 \| Cognitive deficits \| 8 HP:0000969 \| Dropsy \| 7 HP:0002181 \| Cerebral edema \| 7 HP:0001987 \| Hyperammonemia \| 6 HP:0100626 \| Chronic hepatic failure \| 5 HP:0001409 \| Portal hypertension \| 5 HP:0000822 \| Hypertension \| 5 HP:0012115 \| Liver inflammation \| 5 HP:0004448 \| Fulminant hepatic failure \| 4 HP:0001541 \| Ascites \| 4 HP:0004787 \| Fulminant hepatitis \| 3 HP:0001289 \| Confusion \| 3 HP:0002902 \| Hyponatremia \| 2 HP:0002527 \| Falls \| 2 HP:0002900 \| Hypokalemia \| 2 HP:0001250 \| Seizures \| 2 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0012531 \| Pain \| 1 HP:0010531 \| Spinal myoclonus \| 1 HP:0002586 \| Peritonitis \| 1 HP:0002613 \| Biliary cirrhosis \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0005202 \| Helicobacter pylori infection \| 1 HP:0001404 \| Hepatocellular necrosis \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0001945 \| Fever \| 1 HP:0004395 \| Malnutrition \| 1 HP:0007313 \| Neuroaxonal degeneration in the brain \| 1 HP:0100786 \| Excessive sleepiness \| 1 HP:0001971 \| Hypersplenism \| 1 HP:0012164 \| Asterixis \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0012398 \| Peripheral edema \| 1 HP:0001259 \| Coma \| 1 HP:0002071 \| Extrapyramidal dysfunction \| 1 HP:0007256 \| Abnormal pyramidal signs \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002019 \| Dyschezia \| 1 HP:0001251 \| Ataxia \| 1 HP:0012847 \| Epilepsia partialis continua \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0002639 \| Budd-Chiari syndrome \| 1 HP:0006562 \| Viral hepatitis \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0008151 \| Prolonged prothrombin time \| 1 HP:0100523 \| Hepatic abscess \| 1 HP:0002354 \| Memory loss \| 1 HP:0001350 \| Slurred speech \| 1

Disease ID	922
Disease	hepatic encephalopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:41) C2364118 \| weakness C2364072 \| depression C2364050 \| hypothermia C1962971 \| myocarditis C1527311 \| brain edema C1522136 \| hypernatremia C0851578 \| sleep disturbances C0850666 \| helicobacter pylori infection C0752303 \| urological manifestations C0679466 \| cognitive deficits C0525041 \| cognitive manifestations C0476237 \| metabolic symptoms C0262405 \| cerebral dysfunction C0235950 \| zinc deficiency C0235031 \| neurological symptoms C0234428 \| impaired consciousness C0234428 \| disturbance of consciousness C0234378 \| postural tremor C0233401 \| psychiatric symptoms C0232766 \| asterixis C0220983 \| metabolic alkalosis C0206307 \| spongy degeneration of white matter C0155773 \| portal vein thrombosis C0155320 \| cortical blindness C0151740 \| raised intracranial pressure C0151740 \| intracranial hypertension C0086439 \| hypokinesia C0038220 \| status epilepticus C0036939 \| induced psychotic disorder C0036572 \| seizures C0033975 \| psychosis C0029166 \| oral manifestations C0027765 \| neurologic disorders C0025517 \| metabolic disorders C0023890 \| liver cirrhosis C0020625 \| hyponatremia C0020514 \| hyperprolactinemia C0018520 \| breath odor C0013604 \| oedema C0009951 \| convulsions C0004623 \| bacterial infections
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:11) C0023890 \| liver cirrhosis \| 26 C1527311 \| brain edema \| 3 C0036572 \| seizures \| 2 C0020625 \| hyponatremia \| 2 C0679466 \| cognitive deficits \| 1 C0038220 \| status epilepticus \| 1 C0232766 \| asterixis \| 1 C0013604 \| oedema \| 1 C0850666 \| helicobacter pylori infection \| 1 C0151740 \| intracranial hypertension \| 1 C0009951 \| convulsions \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs211037	24482035	2566	GABRG2	umls:C0019151	BeFree	Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (t 1/2 > 12-h), high-dosage (>1.5 defined daily dose equivalents) and long-duration (>2-months) BZD use, carrier of variant genotypes (AG + GG) of GABRA 1 (rs2290732) and having the wild genotype (TT) of GABRG 2 (rs211037) were significant predictors of the development of BZD-associated HE in cirrhotic patients.	0.200271442	2013	GABRG2	5	162101274	C	T
rs211037	24482035	2554	GABRA1	umls:C0019151	BeFree	Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (t 1/2 > 12-h), high-dosage (>1.5 defined daily dose equivalents) and long-duration (>2-months) BZD use, carrier of variant genotypes (AG + GG) of GABRA 1 (rs2290732) and having the wild genotype (TT) of GABRG 2 (rs211037) were significant predictors of the development of BZD-associated HE in cirrhotic patients.	0.200271442	2013	GABRG2	5	162101274	C	T
rs2290732	24482035	2566	GABRG2	umls:C0019151	BeFree	Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (t 1/2 > 12-h), high-dosage (>1.5 defined daily dose equivalents) and long-duration (>2-months) BZD use, carrier of variant genotypes (AG + GG) of GABRA 1 (rs2290732) and having the wild genotype (TT) of GABRG 2 (rs211037) were significant predictors of the development of BZD-associated HE in cirrhotic patients.	0.200271442	2013	GABRA1	5	161897892	A	G
rs2290732	24482035	2554	GABRA1	umls:C0019151	BeFree	Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (t 1/2 > 12-h), high-dosage (>1.5 defined daily dose equivalents) and long-duration (>2-months) BZD use, carrier of variant genotypes (AG + GG) of GABRA 1 (rs2290732) and having the wild genotype (TT) of GABRG 2 (rs211037) were significant predictors of the development of BZD-associated HE in cirrhotic patients.	0.200271442	2013	GABRA1	5	161897892	A	G
rs267606959	20142534	5428	POLG	umls:C0019151	BeFree	To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children.	0.000271442	2010	POLG	15	89318986	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	922
Disease	hepatic encephalopathy
Case	(Waiting for update.)

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