Rhizomelic Chondrodysplasia Punctata, Type 3; Rcdp3

Description

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Clinical Features

Phenotypes and symptoms related to Rhizomelic Chondrodysplasia Punctata, Type 3; Rcdp3

  • Pica
  • Failure to thrive
  • Rhizomelia
  • Short humerus
  • Epiphyseal stippling
  • Short femur

Incidence and onset information

Not enough data available about incidence and published cases.


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Rhizomelic Chondrodysplasia Punctata, Type 3; Rcdp3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Rhizomelic Chondrodysplasia Punctata NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

AGPS, PEX7, GNPAT
Specificity
34 %
Genes
100 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

AMACR, HSD17B4, DNM1L, CAT, SCP2, AGPS, PHYH, ACOX1, AGXT, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Rhizomelic Chondrodysplasia Punctata Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPS, PEX7, GNPAT
Specificity
34 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Peroxisomal disorders.

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

AMACR, HSD17B4, DNM1L, AGPS, ABCD1, ACOX1, AGXT, PEX2, PEX7, PEX1, PEX6, PEX3, PEX10, PEX5, GNPAT, PEX11B
Specificity
7 %
Genes
100 %
Rhizomelic chondrodysplasia punctata type 3 (sequence analysis of AGPS gene).

By CGC Genetics in Portugal.

AGPS
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Rhizomelic Chondrodysplasia Punctata Type 3.

By Exeter Molecular Genetics Laboratory in United Kingdom.

AGPS
Specificity
100 %
Genes
100 %
Rhizomelic Chondrodysplasia Punctata Type 3.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

AGPS
Specificity
100 %
Genes
100 %
Rhizomelic Chondrodysplasia Punctata Type 3 via AGPS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGPS
Specificity
100 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HSD17B4, DNM1L, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, GNPAT , (...)

View the complete list with 2 more genes
Specificity
5 %
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 %
Chondrodysplasia punctata and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AGPS, PEX7, LBR, PEX5, EBP, NSDHL, GNPAT, MGP, ARSE, FAR1
Specificity
10 %
Genes
100 %
Chondrodysplasia punctata and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AGPS, PEX7, LBR, PEX5, EBP, NSDHL, GNPAT, MGP, ARSE, FAR1
Specificity
10 %
Genes
100 %
Chondrodysplasia punctata and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

AGPS, PEX7, LBR, PEX5, EBP, NSDHL, GNPAT, MGP, ARSE, FAR1
Specificity
10 %
Genes
100 %
Rhizomelic chondrodysplasia punctata, type 3.

By Centogene AG - the Rare Disease Company in Germany.

AGPS
Specificity
100 %
Genes
100 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Chondrodysplasia punctata Panel.

By CeGaT GmbH in Germany.

AGPS, PEX7, LBR, EBP, NSDHL, GNPAT, ARSE
Specificity
15 %
Genes
100 %
Single gene testing AGPS.

By CeGaT GmbH in Germany.

AGPS
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Rhizomelic Chondrodysplasia Punctata Spectrum Panel.

By Invitae in United States.

AGPS, PEX7, GNPAT
Specificity
34 %
Genes
100 %
Peroxisomal disorders.

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

ABHD12, HSD17B4, DNM1L, SCP2, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12 , (...)

View the complete list with 4 more genes
Specificity
5 %
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 %
Peroxisomal NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HSD17B4, DNM1L, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
AGPS.

By Fulgent Genetics Fulgent Genetics in United States.

AGPS
Specificity
100 %
Genes
100 %
Chondrodysplasia Punctata Panel.

By Blueprint Genetics in Finland.

AGPS, PEX7, LBR, PEX14, PEX19, EBP, NSDHL, GNPAT, ARSE
Specificity
12 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Peroxisomal Disorders Panel.

By Blueprint Genetics in Finland.

AMACR, HSD17B4, AGPS, ABCD1, PHYH, ACOX1, AGXT, SUGCT, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
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 %
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 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3.

By Laboratorio de Genetica Clinica SL in Spain.

AGPS
Specificity
100 %
Genes
100 %
Rhizomelic Chondrodysplasia Punctata Type 3 , Sequencing AGPS Gene.

By Reference Laboratory Genetics in Spain.

AGPS
Specificity
100 %
Genes
100 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

GAA, AMACR, HSD17B4, PSAP, GNPTAB, GLB1, SMPD1, DNM1L, CAT, SCP2, CTSD, AGPS, LMBRD1, HEXA, GM2A, HEXB, PHYH, CTSK, ACOX1, AGXT , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

AGPS, PEX7, LBR, EBP, GNPAT, ARSE, IMPAD1
Specificity
15 %
Genes
100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

ALDOB, FBP1, PC, HSD17B4, PSAP, GNPTAB, GLB1, GNE, DLD, SMPD1, PDHB, PCK2, SCP2, CTSD, PDP1, GRN, AGPS, PDHA1, ABCD1, HEXA , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %

Alternate names

Rhizomelic Chondrodysplasia Punctata, Type 3; Rcdp3 Is also known as alkyldihydroxyacetonephosphate synthase deficiency, alkylglycerone-phosphate synthase deficiency, agps deficiency;.



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