Ehlers-danlos Syndrome, Periodontal Type, 2; Edspd2

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Periodontal Type, 2; Edspd2

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia
  • Umbilical hernia
  • Irritability
  • Joint hypermobility
  • Bruising susceptibility
  • Lymphoma

And another 9 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.

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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Ehlers-danlos Syndrome, Periodontal Type, 2; Edspd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

C1R, C1S, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, ATP7A, PLOD1
Specificity
9 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

TNXB, C1R, C1S, B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, FLNA, ATP7A, PLOD1, B4GALT7
Specificity
6 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos syndrome, periodontal type Comprehensive panel.

By Connective Tissue Gene Tests (United States).

C1R, C1S
Specificity
50 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests (United States).

C1R, C1S, B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, FLNA, ATP7A, PLOD1, B4GALT7, PRDM5
Specificity
6 %
Genes
100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant.

By Connective Tissue Gene Tests (United States).

C1R, C1S, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Specificity
13 %
Genes
100 %
Ehlers-Danlos syndrome, periodontal type Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

C1R, C1S
Specificity
50 %
Genes
100 %

We have 14 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 Search Engine

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