Ehlers-danlos Syndrome Due To Tenascin-x Deficiency

Description

Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome Due To Tenascin-x Deficiency

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Fatigue
  • Hernia
  • Arrhythmia
  • Arthralgia
  • Proximal muscle weakness

And another 40 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Ehlers-danlos Syndrome Due To Tenascin-x Deficiency Is also known as eds, classic-like type, ehlers-danlos syndrome, classic-like type, ehlers-danlos syndrome due to tenascin-x deficiency, eds due to tnx deficiency, tnx deficiency.

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 Due To Tenascin-x Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Connective Tissue Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Familial Aneurysm and Aortopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
TNXB Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TNXB
Specificity
100 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
TNXB.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TNXB
Specificity
100 %
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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1 CYANOSIS, TRANSIENT NEONATAL; TNCY CATARACT 1, MULTIPLE TYPES; CTRCT1 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

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