Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 2; Ibmpfd2

Clinical Features

Top most frequent phenotypes and symptoms related to Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 2; Ibmpfd2

  • Cognitive impairment
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system
  • Myopathy
  • Behavioral abnormality
  • Elevated serum creatine phosphokinase
  • Dementia
  • Muscular dystrophy
  • Rimmed vacuoles
  • Centrally nucleated skeletal muscle fibers

And another 3 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

Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 2; Ibmpfd2 Is also known as multisystem proteinopathy 2, msp2.

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.


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Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 2; Ibmpfd2 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 %
Frontotemporal dementia (sequence analysis of HNRNPA2B1 gene).

By CGC Genetics (Portugal).

HNRNPA2B1
Specificity
100 %
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
Specificity
4 %
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
Specificity
4 %
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
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
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
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders NGS 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
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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