Digital Clubbing, Isolated Congenital
Description
Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx (Myers and Farquhar, 2001).
Genes related to Digital Clubbing, Isolated Congenital
- HPGD
Clinical Features
Phenotypes and symptoms related to Digital Clubbing, Isolated Congenital
- Pica
- Milia
- Bronchiectasis
- Cyanosis
- Clubbing
- Psoriasiform dermatitis
- Abnormality of the gastrointestinal tract
- Clubbing of fingers
- Periostosis
- Lung abscess
Incidence and onset information
— Not enough data available about incidence and published cases.
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Digital Clubbing, Isolated Congenital Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
HPGD. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
HPGD
Specificity
100 %
Genes
100 % |
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
100 % |
Dense bone dysplasia NGS panel.
By Connective Tissue Gene Tests in United States.
ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
100 % |
Dense bone dysplasia Comprehensive panel.
By Connective Tissue Gene Tests in United States.
ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
100 % |
Dense bone dysplasia Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1
Specificity
8 %
Genes
100 % |
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
Osteopetrosis and Dense bone dysplasia NGS panel.
By Connective Tissue Gene Tests in United States.
ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
Osteopetrosis and Dense bone dysplasia Comprehensive panel.
By Connective Tissue Gene Tests in United States.
ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive.
By Bioscientia GmbH Center for Human Genetics in Germany.
HPGD
Specificity
100 %
Genes
100 % |
Hypertrophic osteoarthropathy type 1.
By Centogene AG - the Rare Disease Company in Germany.
HPGD
Specificity
100 %
Genes
100 % |
Skeletal dysplasia with increased bone density Panel.
By CeGaT GmbH in Germany.
ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
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
100 % |
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
100 % |
HPGD.
By Fulgent Genetics Fulgent Genetics in United States.
HPGD
Specificity
100 %
Genes
100 % |
Cranioosteoarthropathy.
By Bioarray in Spain.
HPGD
Specificity
100 %
Genes
100 % |
PRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PACHYDERMOPERIOSTOSIS).
By Laboratorio de Genetica Clinica SL in Spain.
HPGD, SLCO2A1
Specificity
50 %
Genes
100 % |
Pachydermoperiostosis , Sequencing HPGD Gene.
By Reference Laboratory Genetics in Spain.
HPGD
Specificity
100 %
Genes
100 % |
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes.
By Reference Laboratory Genetics in Spain.
COL2A1, TRPV4, LPIN2, WISP3, IL1RN, HPGD, ACAN
Specificity
15 %
Genes
100 % |
Alternate names
Digital Clubbing, Isolated Congenital Is also known as clubbing of digits, acropachy, hereditary;isolated congenital acropachy; isolated congenital nail clubbing.
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