Encephalopathy

Symptom Information:

Symptom ID: HPO:0001298
Synonyms:
Encephalopathy [OMIM:Encephalopathy]
Encephalopathy (in 1 patient) [OMIM:Encephalopathy (in 1 patient)]
Encephalopathies [MedDRA:10014623]
Encephalopathy [MedDRA:10014625]
Quality:
Cross references:
OMIM: "Encephalopathy" [OMIM:Encephalopathy]
OMIM: "Encephalopathy (in 1 patient)" [OMIM:Encephalopathy (in 1 patient)]
UMLS:C1963101 "Encephalopathy" [HPO:0001298]
Is a (Direct Parents):
MedDRA Encephalopathies NEC
HPO         Morphological abnormality of the central nervous system
MedDRA Nervous system disorders
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system morphology(HPO:0012639)
             Morphological abnormality of the central nervous system(HPO:0002011)
                Encephalopathy(HPO:0001298)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Encephalopathy(HPO:0001298)
Database Frequency: 72 / 7739
Resource:

All diseases associated with this symptom:

2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
AICARDI-GOUTIERES SYNDROME 2 (OMIM:610181)
AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Acute necrotizing encephalopathy of childhood (Orphanet:263524)
Acyl-CoA dehydrogenase 9 deficiency (Orphanet:99901)
Adenylosuccinate lyase deficiency (Orphanet:46)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2 (OMIM:615119)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COG8-CDG (Orphanet:95428)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Carnitine uptake deficiency (Orphanet:158)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Citrullinemia type I (Orphanet:247525)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Crigler-Najjar syndrome (Orphanet:205)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
D-glyceric aciduria (Orphanet:941)
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)
Ethylmalonic encephalopathy (Orphanet:51188)
FADD-related immunodeficiency (Orphanet:306550)
Familial acute necrotizing encephalopathy (Orphanet:88619)
Familial encephalopathy with neuroserpin inclusion bodies (Orphanet:85110)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
GRACILE syndrome (Orphanet:53693)
Glycine encephalopathy (Orphanet:407)
Hereditary North American Indian childhood cirrhosis (Orphanet:168583)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet:401948)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Leber plus disease (Orphanet:99718)
Leigh syndrome (Orphanet:506)
Leigh syndrome with nephrotic syndrome (Orphanet:255249)
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)
Letterer-Siwe disease (Orphanet:99870)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 (OMIM:616281)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Maternally-inherited Leigh syndrome (Orphanet:255210)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Neonatal hemochromatosis (Orphanet:446)
Ornithine transcarbamylase deficiency (Orphanet:664)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Pediatric systemic lupus erythematosus (Orphanet:93552)
Pitt-Hopkins syndrome (Orphanet:2896)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Pyridoxal phosphate-responsive seizures (Orphanet:79096)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
Recessive mitochondrial ataxia syndrome (Orphanet:94125)
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES (OMIM:606688)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Thiamine-responsive encephalopathy (Orphanet:199348)
Very long chain acyl-CoA dehydrogenase deficiency (Orphanet:26793)