Cole-carpenter Syndrome 1; Clcrp1

Description

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

Genes related to Cole-carpenter Syndrome 1; Clcrp1

SEC24D
P4HB

Clinical Features

Top most frequent phenotypes and symptoms related to Cole-carpenter Syndrome 1; Clcrp1

Global developmental delay
Short stature
Generalized hypotonia
Scoliosis
Hypertelorism
Growth delay
Micrognathia
Failure to thrive
Muscular hypotonia
Ptosis

And another 42 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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Cole-carpenter Syndrome 1; Clcrp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteogenesis Imperfecta and Genetic Bone Disorders Panel. By Collagen Diagnostic Laboratory University of Washington in United States. ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...) View the complete list with 10 more genes Panel GTR000525804 complete gene list ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, NBAS, B3GAT3, GORAB Specificity 7 % Genes 100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1 , (...) View the complete list with 7 more genes Panel GTR000530009 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, ENPP1, SLC34A3, DMP1 Specificity 8 % Genes 100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1 Specificity 6 % Genes 50 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...) View the complete list with 5 more genes Panel GTR000552568 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, ENPP1, SLC34A3, DMP1 Specificity 4 % Genes 50 %
Cole-Carpenter syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. SEC24D, P4HB Specificity 100 % Genes 100 %
Cole-Carpenter syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. SEC24D, P4HB Specificity 100 % Genes 100 %
Cole-Carpenter syndrome NGS panel. By Connective Tissue Gene Tests in United States. SEC24D, P4HB Specificity 100 % Genes 100 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...) View the complete list with 4 more genes Panel GTR000559322 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1 Specificity 9 % Genes 100 %
Osteogenesis imperfecta Deletion / Duplication panel - Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1 Specificity 6 % Genes 50 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...) View the complete list with 4 more genes Panel GTR000559365 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1 Specificity 9 % Genes 100 %
Osteogenesis imperfecta NGS panel - Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1 Specificity 6 % Genes 50 %
Osteogenesis imperfecta Comprehensive panel - Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1 Specificity 6 % Genes 50 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...) View the complete list with 4 more genes Panel GTR000559438 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1 Specificity 9 % Genes 100 %
Cole-Carpenter Syndrome. By Institute of Human Genetics Cologne University in Germany. P3H1, SEC24D Specificity 50 % Genes 50 %
Osteogenesis imperfecta and osteoporosis - different panels. By Institute of Human Genetics Cologne University in Germany. ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D , (...) View the complete list with 3 more genes Panel GTR000558418 complete gene list ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, MMP2 Specificity 9 % Genes 100 %
OI panel 2. By Connective Tissue Laboratory Ghent University Hospital in Belgium. FKBP10, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, B3GALT6 Specificity 11 % Genes 100 %
Osteogenesis Imperfecta Panel. By Blueprint Genetics in Finland. ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...) View the complete list with 7 more genes Panel GTR000552815 complete gene list ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, CLCN5, SLC34A3 Specificity 4 % Genes 50 %
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 Panel GTR000561533 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, PITX2, OTX2, RAF1, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, SOX2, HESX1, LMX1B, COL5A1, COL5A2, ARSB, FGFR3, FANCC, BRAF, COL10A1, CREBBP, DHCR7, HRAS, IDS, KRAS, MAP2K1, NRAS, PTPN11, RMRP, RUNX2, SHOC2, SOS1, VDR, FGFR2, HDAC8, RIT1, MAP2K2, RAD21, CBL, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PROP1, PEX7, SLC26A2, TRPV4, LMNA, NF1, GHRHR, FGFR1, SHOX, CASR, POU1F1, GH1, GHR, PHEX, FGF23, ANO5, HSPG2, CENPJ, FLNA, ANKRD11, FGD1, SETBP1, LBR, ACTB, ACTG1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, LZTR1, PEX14, PEX19, KAT6B, WDR35, CANT1, PTH1R, MBTPS2, FANCB, EBP, SOX3, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, RASA2, RRAS, CEP152, GLI2, PCNT, ATR, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, TBX19, LHX4, LHX3, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, TRIM37, GNAS, GJA1, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, RBBP8, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, INSR, AKT1, EXT2, EXT1, STAT5B, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, SRCAP, CSPP1, WNT5A, RTTN, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, CCNQ, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CEP63, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, OBSL1, CCDC8, LARP7, POC1A, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, IGF1, MATN3, TBX3, IGF1R, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IGFALS, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L, IRS1 Specificity 1 % Genes 50 %
Cole-Carpenter syndrome type 1 (sequence analysis of P4HB gene). By CGC Genetics in Portugal. P4HB Specificity 100 % Genes 50 %
Cole-Carpenter syndrome type 1 (sequence analysis of P4HB gene). By CGC Genetics in Portugal. P4HB Specificity 100 % Genes 50 %
Hydrocephalus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PTEN, L1CAM, POMT1, AP1S2, FLVCR2, DNAI1, P4HB, ZIC3, PIK3R2, AKT3, CCND2, CRB2, CCDC88C, MPDZ, WDR81, EML1, HDAC6 Specificity 6 % Genes 50 %
Osteogenesis imperfecta Comprehensive panel - Dominant. By Connective Tissue Gene Tests in United States. ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB Specificity 15 % Genes 50 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant. By Connective Tissue Gene Tests in United States. ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB Specificity 15 % Genes 50 %
Osteogenesis imperfecta NGS panel - Dominant. By Connective Tissue Gene Tests in United States. ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB Specificity 15 % Genes 50 %
Cole-Carpenter Syndrome. By Institute of Human Genetics Cologne University in Germany. P4HB Specificity 100 % Genes 50 %
P4HB. By Fulgent Genetics Fulgent Genetics in United States. P4HB Specificity 100 % Genes 50 %

Alternate names

Cole-carpenter Syndrome 1; Clcrp1 Is also known as bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features;bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome.

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