Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal brain positron emission tomography (HP:0012657)help
..Starting node
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Abnormal brain FDG positron emission tomography (HP:0012658)help
Term ID: 12658
Name: Abnormal brain FDG positron emission tomography
Synonym: Abnormal brain FDG PET scan
Definition: An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.
Comments:
Reference: HP:0012658
Genes and Diseases:
 
       Child Nodes:
........expandPrefrontal hypometabolism in FDG PET (HP:0012659) help
........expandThalamic hypometabolism in FDG PET (HP:0012660) help
........expandHypothalamic hypometabolism in FDG PET (HP:0012661) help
........expandParietal hypometabolism in FDG PET (HP:0012662) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent56
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent56
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent42
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent42
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent126
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent126
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent140
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent140
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent241
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent241
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent62
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent31
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent31
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040282 - Frequent63
HP:0012658HP:0012658Abnormal brain FDG positron emission tomography0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent63
HP:0012658HP:0012661Hypothalamic hypometabolism in FDG PET1 CL E G H
HP:0012658HP:0012660Thalamic hypometabolism in FDG PET1 CL E G H
HP:0012658HP:0012659Prefrontal hypometabolism in FDG PET1 CL E G H
HP:0012658HP:0012662Parietal hypometabolism in FDG PET1APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0012658HP:0012662Parietal hypometabolism in FDG PET1PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459


Genes (23) :AKT1 APOE BAP1 C9ORF72 CHMP2B COQ2 GRN MAPT NF2 PDGFB PIK3CA PSEN1 PSEN2 SMARCB1 SMARCE1 SMO SQSTM1 SUFU TERT TMEM106B TRAF7 TREM2 VCP

Diseases (6) :ORPHA:2495 OMIM:606889 ORPHA:275864 ORPHA:100070 ORPHA:227510 ORPHA:98933
 

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