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

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.

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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 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.


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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
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
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
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 %

We have 16 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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