Trichorhinophalangeal Syndrome, Type Iii; Trps3

Clinical Features

Top most frequent phenotypes and symptoms related to Trichorhinophalangeal Syndrome, Type Iii; Trps3

  • Intellectual disability
  • Short stature
  • Pica
  • Microcephaly
  • Scoliosis
  • Brachydactyly
  • Long philtrum
  • Delayed skeletal maturation
  • Osteopenia
  • Thin upper lip vermilion
And another 23 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.


Mendelian

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Trichorhinophalangeal Syndrome, Type Iii; Trps3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRPS1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

TRPS1
Specificity
100 %
Genes
100 %
TRPS1. Complete sequencing.

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

TRPS1
Specificity
100 %
Genes
100 %
TRPS1. Detection of large deletions and/or duplications by MLPA.

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

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome].

By CGC Genetics in Portugal.

EXT1, TRPS1
Specificity
50 %
Genes
100 %
Trichorhinophalangeal syndrome types 1 and 3 (deletion/duplication analysis of TRPS1 gene).

By CGC Genetics in Portugal.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal syndrome type I (sequence analysis of TRPS1 gene).

By CGC Genetics in Portugal.

TRPS1
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 %
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TRPS1
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
Langer-Giedion syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

TRPS1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Single gene testing TRPS1.

By CeGaT GmbH in Germany.

TRPS1
Specificity
100 %
Genes
100 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

FBN1, FGFR3, PRKAR1A, WDR35, ADAMTSL2, IFT140, IFT43, IFT122, WNT5A, ROR2, PDE4D, ZSWIM6, GPC6, TRPS1, GDF5, DDR2, NPR2, IHH, GSC
Specificity
6 %
Genes
100 %
Trichorhinophalangeal syndrome, type I.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal syndrome, type III.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
100 %
Triorhinophalangeal syndrome I.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
100 %
Triorhinophalangeal syndrome III.

By Praxis fuer Humangenetik Wien in Austria.

TRPS1
Specificity
100 %
Genes
100 %
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
100 %
Trichorhinophalangeal syndrome, type I.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal syndrome, type III.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
100 %
Triorhinophalangeal syndrome I.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
100 %
Triorhinophalangeal syndrome III.

By MedGene in Slovakia.

TRPS1
Specificity
100 %
Genes
100 %
Invitae Trichorhinophalangeal Syndrome Panel.

By Invitae in United States.

EXT1, TRPS1
Specificity
50 %
Genes
100 %
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
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 %
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
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 %
TRPS1.

By Fulgent Genetics Fulgent Genetics in United States.

TRPS1
Specificity
100 %
Genes
100 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
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
100 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
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
100 %
Trichorhinophalangeal syndrome type 1.

By Bioarray in Spain.

TRPS1
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
TRICHORHINOPHALANGEAL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal Syndrome Type III , Sequencing TRPS1 Gene.

By Reference Laboratory Genetics in Spain.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal Syndrome Type I , Sequencing TRPS1 Gene.

By Reference Laboratory Genetics in Spain.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal Syndrome Types I and III , Deletions-Duplications (MLPA) TRPS1 Gene.

By Reference Laboratory Genetics in Spain.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal Syndrome: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TRPS1
Specificity
100 %
Genes
100 %

Alternate names

Trichorhinophalangeal Syndrome, Type Iii; Trps3 Is also known as sugio-kajii syndrome.


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