PedAM

Pediatric Disease Annotations & Medicines


	dementia, frontotemporal

Disease ID	1182
Disease	dementia, frontotemporal
Definition	The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.
Synonym	complex, disinhibition-dementia-parkinsonism-amyotrophy complex, disinhibition-dementia-parkinsonism-amytrophy complices, disinhibition-dementia-parkinsonism-amyotrophy complices, disinhibition-dementia-parkinsonism-amytrophy ddpac dementia, frontotemporal lobe dementia, frontotemporal lobe (fldem) dementia, frontotemporal, with parkinsonism dementia, grn-related frontotemporal dementia, hereditary dysphasic disinhibition dementia, ubiquitin-positive frontotemporal dementias, frontotemporal dementias, frontotemporal lobe dementias, frontotemporal lobe (fldem) dementias, grn-related frontotemporal dementias, ubiquitin-positive frontotemporal disease, familial pick's disease, wilhelmsen-lynch diseases, familial pick's diseases, wilhelmsen-lynch disinhibition dementia parkinsonism amyotrophy complex disinhibition dementia parkinsonism amytrophy complex disinhibition-dementia-parkinsonism-amyotrophy complex disinhibition-dementia-parkinsonism-amyotrophy complices disinhibition-dementia-parkinsonism-amytrophy complex disinhibition-dementia-parkinsonism-amytrophy complices familial pick disease familial pick's disease familial pick's diseases familial picks disease fldem frontotemporal dementia (disorder) frontotemporal dementia [disease/finding] frontotemporal dementia with parkinsonism frontotemporal dementia with parkinsonism 17 frontotemporal dementia with parkinsonism-17 frontotemporal dementia, grn-related frontotemporal dementia, ubiquitin positive frontotemporal dementia, ubiquitin-positive frontotemporal dementias frontotemporal dementias, grn-related frontotemporal dementias, ubiquitin-positive frontotemporal lobar degeneration with tau inclusions frontotemporal lobar degeneration with ubiquitin positive inclusions frontotemporal lobar degeneration with ubiquitin-positive inclusions frontotemporal lobe dementia frontotemporal lobe dementia (fldem) frontotemporal lobe dementias frontotemporal lobe dementias (fldem) ftd ftd-grn ftd-pgrn ftdp-17 ftdp17 ftld with tau inclusions ftld with tdp 43 pathology ftld with tdp-43 pathology ftld-17 grn ftld-tdp grn related frontotemporal dementia grn-related frontotemporal dementia grn-related frontotemporal dementias hddd1 hddd2 hereditary dysphasic disinhibition dementia lobe dementia, frontotemporal lobe dementias, frontotemporal mstd multiple system tauopathy with presenile dementia pick's disease, familial pick's diseases, familial ubiquitin-positive frontotemporal dementia ubiquitin-positive frontotemporal dementias wilhelmsen lynch disease wilhelmsen-lynch disease wilhelmsen-lynch diseases wld
OMIM	OMIM:600274 OMIM:607485
DOID	DOID:9255
UMLS	C0338451
SNOMED-CT	SNOMEDCT_US_2016_09_01:230270009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0497327 \| dementia \| 5 C0338451 \| frontotemporal dementia \| 5
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) CHMP2B \| 25978 \| CTD_human GRN \| 2896 \| CLINVAR;CTD_human PSEN1 \| 5663 \| CLINVAR;CTD_human;UNIPROT MAPT \| 4137 \| CLINVAR;CTD_human;UNIPROT RAB38 \| 23682 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2896 \| GRN \| infer 4137 \| MAPT \| infer 10747 \| MASP2 \| infer 23435 \| TARDBP \| infer 7415 \| VCP \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1182
Disease	dementia, frontotemporal
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0100315 \| Lewy bodies \| 5 HP:0000726 \| Dementia \| 5 HP:0002145 \| Frontotemporal dementia \| 5

Disease ID	1182
Disease	dementia, frontotemporal
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909335	19704082	7415	VCP	umls:C3811918	BeFree	In 3 unrelated families with IBMPFD segregating VCP p.Arg159His, we observed a high degree of clinical heterogeneity and variable penetrance of the 3 cardinal clinical phenotypes: inclusion body myopathy, Paget disease of bone, and frontotemporal lobar degeneration.	0.000814326	2009	VCP	9	35065351	C	T
rs1799983	19087148	4846	NOS3	umls:C3811918	BeFree	The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration.	0.000271442	2009	NOS3	7	150999023	T	G
rs1990622	25096617	54664	TMEM106B	umls:C3811918	BeFree	Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP).	0.003528744	2016	NA	7	12244161	A	G
rs1990622	24166182	54664	TMEM106B	umls:C3811918	BeFree	Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration.	0.003528744	2013	NA	7	12244161	A	G
rs1990622	24731779	54664	TMEM106B	umls:C3811918	BeFree	We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration.	0.003528744	2014	NA	7	12244161	A	G
rs34637584	18353371	120892	LRRK2	umls:C3811918	BeFree	Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration.	0.000814326	2008	LRRK2	12	40340400	G	A
rs34637584	17151837	120892	LRRK2	umls:C3811918	BeFree	Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions.	0.000814326	2007	LRRK2	12	40340400	G	A
rs367543041	22398199	23435	TARDBP	umls:C3811918	BeFree	Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.	0.032030141	2012	TARDBP	1	11022553	G	A,C
rs386602118	22596272	627	BDNF	umls:C3811918	BeFree	The brain-derived neurotrophic factor Val66Met polymorphism is associated with reduced hippocampus perfusion in frontotemporal lobar degeneration.	0.000271442	2012	NA	NA	NA	NA	NA
rs5848	23342160	2896	GRN	umls:C3811918	BeFree	A single nucleotide polymorphism GRN rs5848 (3'UTR+78 C>T) was reported to alter the risk for frontotemporal lobar degeneration.	0.020629582	2013	GRN	17	44352876	C	T
rs5848	19446372	2896	GRN	umls:C3811918	BeFree	No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.	0.020629582	2011	GRN	17	44352876	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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