Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Encephalopathy (HP:0001298)help
..Starting node
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Progressive encephalopathy (HP:0002448)help
Term ID: 2448
Name: Progressive encephalopathy
Synonym: Progressive brain disease
Definition:
Comments:
Reference: HP:0002448
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcute encephalopathy (HP:0006846) help
..expandCongenital encephalopathy (HP:0007239) help
..expandEpileptic encephalopathy (HP:0200134) help
..expandHepatic encephalopathy (HP:0002480) help
..expandHypoglycemic encephalopathy (HP:0006929) help
..expandInfantile encephalopathy (HP:0007105) help
..expandMitochondrial encephalopathy (HP:0006789) help
..expandNecrotizing encephalopathy (HP:0006976) help
..expandNonprogressive encephalopathy (HP:0007030) help
..expandRecurrent encephalopathy (HP:0007335) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002448HP:0002448Progressive encephalopathy0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040280 - Obligate105
HP:0002448HP:0002448Progressive encephalopathy0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040281 - Very frequent6
HP:0002448HP:0002448Progressive encephalopathy0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0002448HP:0002448Progressive encephalopathy0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0002448HP:0002448Progressive encephalopathy0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0002448HP:0002448Progressive encephalopathy0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040281 - Very frequent52
HP:0002448HP:0002448Progressive encephalopathy0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040284 - Very rare80
HP:0002448HP:0002448Progressive encephalopathy0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0002448HP:0002448Progressive encephalopathy0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040284 - Very rare2
HP:0002448HP:0002448Progressive encephalopathy0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51


Genes (10) :BSCL2 GLYCTK HTRA1 NADK2 SUCLA2 TBCE TH TREX1 TSPOAP1 WDR45

Diseases (9) :ORPHA:363400 ORPHA:941 OMIM:600142 ORPHA:431361 OMIM:612073 ORPHA:496756 ORPHA:101150 OMIM:225750 ORPHA:329284
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.