Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Mental deterioration (HP:0001268)

Parent Node:
Dementia (HP:0000726)

..Starting node
..Frontotemporal dementia (HP:0002145)

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:

........

Semantic dementia (HP:0030219)

Sister Nodes:

Frontal lobe dementia (HP:0000727)

Frontolimbic dementia (HP:0002439)

Subcortical dementia (HP:0007123)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002145	HP:0002145	Frontotemporal dementia	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0002145	HP:0002145	Frontotemporal dementia	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		74
HP:0002145	HP:0002145	Frontotemporal dementia	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0002145	HP:0002145	Frontotemporal dementia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0002145	HP:0002145	Frontotemporal dementia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	56
HP:0002145	HP:0002145	Frontotemporal dementia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	56
HP:0002145	HP:0002145	Frontotemporal dementia	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0002145	HP:0002145	Frontotemporal dementia	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0002145	HP:0002145	Frontotemporal dementia	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	11
HP:0002145	HP:0002145	Frontotemporal dementia	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0002145	HP:0002145	Frontotemporal dementia	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0002145	HP:0002145	Frontotemporal dementia	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	42
HP:0002145	HP:0002145	Frontotemporal dementia	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0002145	HP:0002145	Frontotemporal dementia	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0002145	HP:0002145	Frontotemporal dementia	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	105
HP:0002145	HP:0002145	Frontotemporal dementia	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0002145	HP:0002145	Frontotemporal dementia	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002145	HP:0002145	Frontotemporal dementia	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	126
HP:0002145	HP:0002145	Frontotemporal dementia	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent	31
HP:0002145	HP:0002145	Frontotemporal dementia	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.	5
HP:0002145	HP:0002145	Frontotemporal dementia	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent	5
HP:0002145	HP:0002145	Frontotemporal dementia	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0002145	HP:0002145	Frontotemporal dementia	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0002145	HP:0002145	Frontotemporal dementia	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0002145	HP:0002145	Frontotemporal dementia	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	140
HP:0002145	HP:0002145	Frontotemporal dementia	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0002145	HP:0002145	Frontotemporal dementia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0002145	HP:0002145	Frontotemporal dementia	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent	2
HP:0002145	HP:0002145	Frontotemporal dementia	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0002145	HP:0002145	Frontotemporal dementia	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		241
HP:0002145	HP:0002145	Frontotemporal dementia	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0002145	HP:0002145	Frontotemporal dementia	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0002145	HP:0002145	Frontotemporal dementia	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	241
HP:0002145	HP:0002145	Frontotemporal dementia	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		59
HP:0002145	HP:0002145	Frontotemporal dementia	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0002145	HP:0002145	Frontotemporal dementia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0002145	HP:0002145	Frontotemporal dementia	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0002145	HP:0002145	Frontotemporal dementia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	62
HP:0002145	HP:0002145	Frontotemporal dementia	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0002145	HP:0002145	Frontotemporal dementia	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	65
HP:0002145	HP:0002145	Frontotemporal dementia	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0002145	HP:0002145	Frontotemporal dementia	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	20
HP:0002145	HP:0002145	Frontotemporal dementia	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0002145	HP:0002145	Frontotemporal dementia	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0002145	HP:0002145	Frontotemporal dementia	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0002145	HP:0002145	Frontotemporal dementia	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0002145	HP:0002145	Frontotemporal dementia	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0002145	HP:0002145	Frontotemporal dementia	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		31
HP:0002145	HP:0002145	Frontotemporal dementia	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	31
HP:0002145	HP:0002145	Frontotemporal dementia	0	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	HP:0040283 - Occasional	6
HP:0002145	HP:0002145	Frontotemporal dementia	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0002145	HP:0002145	Frontotemporal dementia	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0002145	HP:0002145	Frontotemporal dementia	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	63
HP:0002145	HP:0002145	Frontotemporal dementia	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0002145	HP:0002145	Frontotemporal dementia	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent	63
HP:0002145	HP:0002145	Frontotemporal dementia	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent	63
HP:0002145	HP:0002145	Frontotemporal dementia	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional	189
HP:0002145	HP:0030219	Semantic dementia	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0002145	HP:0030219	Semantic dementia	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	74
HP:0002145	HP:0030219	Semantic dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	241
HP:0002145	HP:0030219	Semantic dementia	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	59
HP:0002145	HP:0030219	Semantic dementia	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0002145	HP:0030219	Semantic dementia	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0002145	HP:0030219	Semantic dementia	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	31

Genes (29) :ABCA7 APP C9ORF72 CCNF CHCHD10 CHMP2B CYLD DCTN1 FUS GRN HNRNPA1 HNRNPA2B1 MAPT PLA2G6 PRKAR1B PSEN1 PSEN2 SORL1 SQSTM1 TARDBP TBK1 TIA1 TMEM106B TOMM40 TREM2 TUBA4A UBQLN2 VCP ZFYVE26

Diseases (26) :ORPHA:1020 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:100070 OMIM:619141 OMIM:615911 OMIM:600795 OMIM:619132 OMIM:168605 OMIM:607485 ORPHA:52430 OMIM:615422 OMIM:600274 OMIM:172700 ORPHA:199351 OMIM:612953 ORPHA:412066 OMIM:616437 OMIM:612069 OMIM:616439 OMIM:619133 OMIM:616208 OMIM:300857 OMIM:167320 ORPHA:100996

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

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