Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 3; Ibmpfd3

Table of contents:

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

Genes related to Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 3; Ibmpfd3

HNRNPA1

Clinical Features

Top most frequent phenotypes and symptoms related to Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 3; Ibmpfd3

Muscle weakness
Cognitive impairment
Myopathy
Elevated serum creatine phosphokinase
Proximal muscle weakness
Muscular dystrophy
Elevated alkaline phosphatase
Limb-girdle muscular dystrophy
Mildly elevated creatine phosphokinase
Rimmed vacuoles

And another 3 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 3; Ibmpfd3 Is also known as multisystem proteinopathy 3, msp3.

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.

Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 3; Ibmpfd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Hereditary dementias (NGS panel for 28 genes). By CGC Genetics (Portugal). SNCA, SNCB, SORL1, TARDBP, TIMM8A, TUBA4A, TYROBP, UBQLN2, VCP, CHCHD10, TREM2, TRPM7, CSF1R, CHMP2B, DNMT1, ATP13A2, FUS, GRN, HNRNPA1, HNRNPA2B1 , (...) View the complete list with 8 more genes Panel complete gene list SNCA, SNCB, SORL1, TARDBP, TIMM8A, TUBA4A, TYROBP, UBQLN2, VCP, CHCHD10, TREM2, TRPM7, CSF1R, CHMP2B, DNMT1, ATP13A2, FUS, GRN, HNRNPA1, HNRNPA2B1, APOE, ITM2B, APP, MAPT, NOTCH3, PRNP, PSEN1, PSEN2 Specificity 4 % Genes 100 %
Frontotemporal dementia (sequence analysis of HNRNPA1 gene). By CGC Genetics (Portugal). HNRNPA1 Specificity 100 % Genes 100 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, OPTN, CDH13, TREM2, CHMP2B, C9orf72, ARHGEF28, FUS, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ANXA11 , (...) View the complete list with 5 more genes Panel complete gene list SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, OPTN, CDH13, TREM2, CHMP2B, C9orf72, ARHGEF28, FUS, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ANXA11, KIF5A, MAPT, PFN1, PSEN1, PSEN2 Specificity 4 % Genes 100 %
Amyotrophic Lateral Sclerosis (ALS) via hnRNPA1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). HNRNPA1 Specificity 100 % Genes 100 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...) View the complete list with 104 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CACNA1S, CCDC78, CAPN3, DNAJB6, CAV3, MICU1, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, KLHL41, SYNE1, TNPO3, BICD2, FKRP, MYO18B, KLHL9, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, SIL1, TRAPPC11, POMGNT2, POMK, DOK7, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, DNM2, ISCU, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, PNPLA2, DYSF, ECEL1, AGL, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, GLE1, HNRNPA1, HNRNPA2B1, HNRNPDL, ITGA7, LAMA2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYH2, MYH3, MYH7, NEB, ATP2A1, PFKM, PLEC, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...) View the complete list with 4 more genes Panel complete gene list SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1, HNRNPA2B1, MATR3, SIGMAR1, PFN1 Specificity 5 % Genes 100 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel. By Connective Tissue Gene Tests (United States). SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...) View the complete list with 4 more genes Panel complete gene list SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1, HNRNPA2B1, MATR3, SIGMAR1, PFN1 Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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