Human Phenotype Ontology 
Grandparent Node:
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Mental deterioration (HP:0001268)help
Parent Node:
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Dementia (HP:0000726)help
..Starting node
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Frontotemporal dementia (HP:0002145)help
Term ID: 2145
Name: Frontotemporal dementia
Synonym:
Definition: A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.
Comments:
Reference: HP:0002145
Genes and Diseases:
 
       Child Nodes:
........expandSemantic dementia (HP:0030219) help

 Sister Nodes: 
..expandFrontal lobe dementia (HP:0000727) help
..expandFrontolimbic dementia (HP:0002439) help
..expandSubcortical dementia (HP:0007123) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228100070ORPHA117728337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228275864ORPHA117728337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002145HP:0002145Frontotemporal dementia0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0002145HP:0002145Frontotemporal dementia0CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002145HP:0002145Frontotemporal dementia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978100070ORPHA116024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978275864ORPHA116024537609512
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0002145HP:0002145Frontotemporal dementia0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0002145HP:0002145Frontotemporal dementia0FUS CL E G H2521275872ORPHA14744010137070
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896100070ORPHA15944601138945
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896275864ORPHA15944601138945
HP:0002145HP:0002145Frontotemporal dementia0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM15944601138945
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002145HP:0002145Frontotemporal dementia0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM12955033600124
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137100070ORPHA15816893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137275864ORPHA15816893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM15816893157140
HP:0002145HP:0002145Frontotemporal dementia0MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15816893157140
HP:0002145HP:0002145Frontotemporal dementia0PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002145HP:0002145Frontotemporal dementia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0002145HP:0002145Frontotemporal dementia0PRKAR1B CL E G H5575412066ORPHA12459390176911
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663100070ORPHA15019508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663275864ORPHA15019508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM15019508104311
HP:0002145HP:0002145Frontotemporal dementia0PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM15019508104311
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878275864ORPHA167711280601530
HP:0002145HP:0002145Frontotemporal dementia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002145HP:0002145Frontotemporal dementia0TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002145HP:0002145Frontotemporal dementia0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002145HP:0002145Frontotemporal dementia0TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002145HP:0002145Frontotemporal dementia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002145HP:0002145Frontotemporal dementia0TMEM106B CL E G H54664275864ORPHA112822407613413
HP:0002145HP:0002145Frontotemporal dementia0TMEM106B CL E G H54664100070ORPHA112822407613413
HP:0002145HP:0002145Frontotemporal dementia0TREM2 CL E G H54209100070ORPHA115417761605086
HP:0002145HP:0002145Frontotemporal dementia0TREM2 CL E G H54209275864ORPHA115417761605086
HP:0002145HP:0002145Frontotemporal dementia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415275864ORPHA160712666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415275872ORPHA160712666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415100070ORPHA160712666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H741552430ORPHA160712666601023
HP:0002145HP:0002145Frontotemporal dementia0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228100070ORPHA117728337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228275864ORPHA117728337614260
HP:0002145HP:0030219Semantic dementia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0002145HP:0030219Semantic dementia1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002145HP:0030219Semantic dementia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978100070ORPHA116024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978275864ORPHA116024537609512
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0002145HP:0030219Semantic dementia1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0002145HP:0030219Semantic dementia1FUS CL E G H2521275872ORPHA14744010137070
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896275864ORPHA15944601138945
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896100070ORPHA15944601138945
HP:0002145HP:0030219Semantic dementia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM15944601138945
HP:0002145HP:0030219Semantic dementia1HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002145HP:0030219Semantic dementia1HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002145HP:0030219Semantic dementia1HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM12955033600124
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137100070ORPHA15816893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137275864ORPHA15816893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM15816893157140
HP:0002145HP:0030219Semantic dementia1MAPT CL E G H4137172700Pick's disease172700C0236642OMIM15816893157140
HP:0002145HP:0030219Semantic dementia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0002145HP:0030219Semantic dementia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0002145HP:0030219Semantic dementia1PRKAR1B CL E G H5575412066ORPHA12459390176911
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663100070ORPHA15019508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663275864ORPHA15019508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM15019508104311
HP:0002145HP:0030219Semantic dementia1PSEN1 CL E G H5663172700Pick's disease172700C0236642OMIM15019508104311
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878275864ORPHA167711280601530
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002145HP:0030219Semantic dementia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0002145HP:0030219Semantic dementia1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002145HP:0030219Semantic dementia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0002145HP:0030219Semantic dementia1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002145HP:0030219Semantic dementia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0002145HP:0030219Semantic dementia1TMEM106B CL E G H54664100070ORPHA112822407613413
HP:0002145HP:0030219Semantic dementia1TMEM106B CL E G H54664275864ORPHA112822407613413
HP:0002145HP:0030219Semantic dementia1TREM2 CL E G H54209275864ORPHA115417761605086
HP:0002145HP:0030219Semantic dementia1TREM2 CL E G H54209100070ORPHA115417761605086
HP:0002145HP:0030219Semantic dementia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415275872ORPHA160712666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415100070ORPHA160712666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H741552430ORPHA160712666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415275864ORPHA160712666601023
HP:0002145HP:0030219Semantic dementia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002145HP:0002145Frontotemporal dementia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM016024537609512
HP:0002145HP:0002145Frontotemporal dementia0TUBA4A CL E G H7277616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia616208C4015512OMIM08212407191110
HP:0002145HP:0002145Frontotemporal dementia0ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0002145HP:0030219Semantic dementia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM016024537609512
HP:0002145HP:0030219Semantic dementia1TUBA4A CL E G H7277616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia616208C4015512OMIM08212407191110
HP:0002145HP:0030219Semantic dementia1ZFYVE26 CL E G H23503100996ORPHA0240820761612012


Genes (27) :ABCA7 APP C9ORF72 C9orf72 CHCHD10 CHMP2B DCTN1 FUS GRN HNRNPA1 HNRNPA2B1 MAPT PLA2G6 PRKAR1B PSEN1 PSEN2 SORL1 SQSTM1 TARDBP TBK1 TMEM106B TOMM40 TREM2 TUBA4A UBQLN2 VCP ZFYVE26

Diseases (24) :275872 100070 275864 105550 615911 614696 600795 168605 607485 52430 615422 600274 172700 199351 612953 412066 616437 612069 616439 616208 300857 167320 100996 1020
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.