Brachydactyly, Type E1; Bde1

Description

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

Clinical Features

Top most frequent phenotypes and symptoms related to Brachydactyly, Type E1; Bde1

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing
  • Joint hyperflexibility
  • Short distal phalanx of finger
And another 13 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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Brachydactyly, Type E1; Bde1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GMDS.

By Fulgent Genetics Fulgent Genetics in United States.

GMDS
Specificity
100 %
Genes
34 %
PTHLH. Complete sequencing.

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

PTHLH
Specificity
100 %
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
67 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
10 %
Genes
67 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
67 %
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
2 %
Genes
67 %
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
2 %
Genes
67 %
PTHLH.

By Fulgent Genetics Fulgent Genetics in United States.

PTHLH
Specificity
100 %
Genes
34 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
10 %
Genes
67 %
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
67 %
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
67 %
Brachydactyly type E.

By Bioarray in Spain.

PTHLH
Specificity
100 %
Genes
34 %
BRACHYDACTYLY TYPE E2.

By Laboratorio de Genetica Clinica SL in Spain.

PTHLH
Specificity
100 %
Genes
34 %
Brachydactyly Type E2, Sequencing PTHLH Gene.

By Reference Laboratory Genetics in Spain.

PTHLH
Specificity
100 %
Genes
34 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
12 %
Genes
67 %
HOXD13 - Related Brachydactyly.

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

HOXD13
Specificity
100 %
Genes
34 %
HOXD13 Gene Sequencing.

By GeneDx in United States.

HOXD13
Specificity
100 %
Genes
34 %
HOXD13. Complete sequencing.

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

HOXD13
Specificity
100 %
Genes
34 %
VATERL association (sequence analysis of HOXD13 gene).

By CGC Genetics in Portugal.

HOXD13
Specificity
100 %
Genes
34 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
34 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
34 %
Syndactyly type 1.

By Centogene AG - the Rare Disease Company in Germany.

HOXD13
Specificity
100 %
Genes
34 %
Syndactyly type 5.

By Centogene AG - the Rare Disease Company in Germany.

HOXD13
Specificity
100 %
Genes
34 %
Vater association.

By Centogene AG - the Rare Disease Company in Germany.

HOXD13
Specificity
100 %
Genes
34 %
Single gene testing HOXD13.

By CeGaT GmbH in Germany.

HOXD13
Specificity
100 %
Genes
34 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
34 %
HOXD13.

By Fulgent Genetics Fulgent Genetics in United States.

HOXD13
Specificity
100 %
Genes
34 %
Brachydactyly type E.

By Bioarray in Spain.

HOXD13
Specificity
100 %
Genes
34 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
34 %
BRACHYDACTYLY TYPE D & TYPE E.

By Laboratorio de Genetica Clinica SL in Spain.

HOXD13
Specificity
100 %
Genes
34 %
Brachydactyly Type E, Sequencing HOXD13 Gene.

By Reference Laboratory Genetics in Spain.

HOXD13
Specificity
100 %
Genes
34 %
Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes.

By Reference Laboratory Genetics in Spain.

HOXD13, FBLN1
Specificity
50 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
34 %

Alternate names

Brachydactyly, Type E1; Bde1 Is also known as brachydactyly, type e;bde;.



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