Frontotemporal Dementia, Chromosome 3-linked; Ftd3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see {104300}) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance.See also frontotemporal lobe dementia (FLDEM ), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT ).

Genes related to Frontotemporal Dementia, Chromosome 3-linked; Ftd3

CHMP2B

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Clinical Features

Top most frequent phenotypes and symptoms related to Frontotemporal Dementia, Chromosome 3-linked; Ftd3

Hyperreflexia
Gait disturbance
Dystonia
Cerebral atrophy
Babinski sign
Dementia
Myoclonus
Cerebral cortical atrophy
Rigidity
Aggressive behavior

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Frontotemporal Dementia, Chromosome 3-linked; Ftd3 Is also known as dem, dementia, familial nonspecific, dmt1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Frontotemporal Dementia, Chromosome 3-linked; Ftd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation. By Athena Diagnostics Inc (United States). SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1 Specificity 6 % Genes 100 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1 Specificity 7 % Genes 100 %
Amyotrophic Lateral Sclerosis. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...) View the complete list with 1 more genes Panel complete gene list ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1, PRPH2 Specificity 5 % Genes 100 %
Dementia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...) View the complete list with 1 more genes Panel complete gene list SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1, PSEN2 Specificity 5 % Genes 100 %
Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...) View the complete list with 57 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, TPK1, TREM2, ARX, RNASEH2A, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, GAMT, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, AUH, PLP1, PNKD, PSEN1, PTEN, PTS, QDPR Specificity 2 % Genes 100 %
Movement Disorders Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...) View the complete list with 72 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, PARK7, TRIM32, TPK1, TREM2, ARX, RNASEH2A, LRRK2, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CSF1R, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DCTN1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, FTL, FUCA1, GAMT, GBA, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAPT, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, KIF1A, AUH, PLA2G6, PLP1, PNKD, POLG, PSEN1, PTEN, PTS, QDPR Specificity 2 % Genes 100 %
Amyotrophic lateral sclerosis 17 (sequence analysis of CHMP2B gene). By CGC Genetics (Portugal). CHMP2B Specificity 100 % Genes 100 %
Frontotemporal dementia (NGS panel for 13 genes). By CGC Genetics (Portugal). TARDBP, TUBA4A, UBQLN2, VCP, CHCHD10, CSF1R, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1 Specificity 8 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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