Ehlers-danlos Syndrome, Musculocontractural Type, 1; Edsmc1

Description

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998).The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement (summary by Malfait et al., 2010).Janecke et al. (2015) reviewed the clinical findings in 34 reported EDSMC patients, 31 with CHST14 mutations and 3 with DSE (OMIM ) mutations (see {615539}), and stated that the disorder can be recognized based on the presence of distal arthrogryposis, including adducted thumbs or clenched fists and talipes equinovarus, as well as hands with atypically shallow palmar creases and tapering fingers, and neonatal muscular hypotonia. Characteristic craniofacial features include brachycephaly, large fontanel, hypertelorism, downslanting palpebral fissures, microcorneae, strabismus, prominent nasolabial folds, short philtrum, thin upper lip, small mouth, high palate, microretrognathia, and prominent and often low-set and posteriorly rotated ears. In addition, EDSMC patients show muscular hypoplasia and weakness, which has been confirmed by ultrasound and electromyography, and intellectual development appears to be normal. Genetic Heterogeneity of Musculocontractural Ehlers-Danlos SyndromeEhlers-Danlos syndrome musculocontractural type 2 (EDSMC2 ) is caused by mutation in the DSE gene (OMIM ) on chromosome 6q22.

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Musculocontractural Type, 1; Edsmc1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Motor delay
And another 96 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.


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Ehlers-danlos Syndrome, Musculocontractural Type, 1; Edsmc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P4HA1.

By Fulgent Genetics Fulgent Genetics in United States.

P4HA1
Specificity
100 %
Genes
34 %
DSE.

By Institute for Human Genetics University Clinic Freiburg in Germany.

DSE
Specificity
100 %
Genes
34 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
5 %
Genes
67 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
17 %
Genes
67 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
10 %
Genes
67 %
Ehlers-Danlos syndrome Comprehensive panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
17 %
Genes
67 %
Ehlers-Danlos syndrome NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
17 %
Genes
67 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
10 %
Genes
67 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
10 %
Genes
67 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
67 %
Ehlers-Danlos syndrome, musculocontractural type 2.

By Centogene AG - the Rare Disease Company in Germany.

DSE
Specificity
100 %
Genes
34 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
DSE mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

DSE
Specificity
100 %
Genes
34 %
Recessive EDS panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, CHST14, B3GAT3, B3GALT6, DSE, XYLT1
Specificity
20 %
Genes
67 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
10 %
Genes
67 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, FBN1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
10 %
Genes
67 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, COL3A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
DSE.

By Fulgent Genetics Fulgent Genetics in United States.

DSE
Specificity
100 %
Genes
34 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
67 %
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE/ KOSHO TYPE.

By Laboratorio de Genetica Clinica SL in Spain.

CHST14, DSE
Specificity
100 %
Genes
67 %
EHLERS-DANLOS SYNDROME: NGS PANEL-2.

By Laboratorio de Genetica Clinica SL in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, TNXB, CHST14, B3GALT6, DSE
Specificity
14 %
Genes
67 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
34 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
34 %
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ATP7A, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, CHST14, C1S, C1R
Specificity
8 %
Genes
34 %
Connective Tissue Disorders Panel.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Familial Aneurysm and Aortopathy.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Ehlers-Danlos syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

CHST14
Specificity
100 %
Genes
34 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
34 %
Distal Arthrogryposis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TPM2, NALCN, FBN2, CHST14, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
34 %
Distal Arthrogryposis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TPM2, NALCN, FBN2, CHST14, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
34 %
CHST14 - Ehlers-Danlos syndrome, musculocontractural type.

By Centre of Molecular Diseases (CMM) CHUV in Switzerland.

CHST14
Specificity
100 %
Genes
34 %
CHST14.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CHST14
Specificity
100 %
Genes
34 %
Connective Tissue Disorders Panel.

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

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Ehlers-Danlos Syndrome, musculocontractural Type.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

CHST14
Specificity
100 %
Genes
34 %
CHST14. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CHST14
Specificity
100 %
Genes
34 %
Ehlers-Danlos Syndrome, Musculocontractural Type (Dundar Syndrome) (sequence analysis of CHST14 gene).

By CGC Genetics in Portugal.

CHST14
Specificity
100 %
Genes
34 %
Ehlers-Danlos syndrome (NGS panel for 12 genes).

By CGC Genetics in Portugal.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14
Specificity
9 %
Genes
34 %
Distal Arthrogryposis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TPM2, NALCN, FBN2, CHST14, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
34 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
34 %
Ehlers-Danlos Syndrome (EDS).

By MGZ Medical Genetics Center in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469
Specificity
8 %
Genes
34 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
34 %
CHST14.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CHST14
Specificity
100 %
Genes
34 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

FKBP10, PLOD2, ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, SCN4A, LAMB2, TPM2, SYNE1, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
CHST14 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

CHST14
Specificity
100 %
Genes
34 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
34 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae in United States.

ATP6V0A2, SRD5A3, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, SLC35A1, ALG6, MPI , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
Invitae Ehlers-Danlos Syndrome Panel.

By Invitae in United States.

ATP7A, COL1A1, COL1A2, COL3A1, SLC39A13, P3H1, CRTAP, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, CHST14
Specificity
8 %
Genes
34 %
EHLERS-DANLOS, SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, TNXB, CHST14
Specificity
10 %
Genes
34 %
Congenital disorder of O-linked glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
34 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
34 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
34 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
34 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
34 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
34 %
CHST14.

By Fulgent Genetics Fulgent Genetics in United States.

CHST14
Specificity
100 %
Genes
34 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
34 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
34 %
Ehlers-Danlos syndrome, musculocontractural type 1.

By Bioarray in Spain.

CHST14
Specificity
100 %
Genes
34 %
Ehlers-Danlos Syndrome Musculocontractural Type , Sequencing CHST14 Gene.

By Reference Laboratory Genetics in Spain.

CHST14
Specificity
100 %
Genes
34 %
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14, B3GALT6
Specificity
8 %
Genes
34 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %

Alternate names

Ehlers-danlos Syndrome, Musculocontractural Type, 1; Edsmc1 Is also known as edsmc, adducted thumb, clubfoot, and progressive joint and skin laxity syndrome, ehlers-danlos syndrome, type vib, formerly;eds6b, formerly, adducted thumb-clubfoot syndrome;atcs, dundar syndrome, arthrogryposis, distal, with peculiar facies and hydronephrosis;adducted thumb-clubfoot syndrome; eds, musculocontractural type; ehlers-danlos syndrome, kosho type; mceds; musculocontractural ehlers-danlos syndrome.



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