Arterial Calcification, Generalized, Of Infancy, 2; Gaci2

Description

Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 (OMIM ).Pseudoxanthoma elasticum (PXE ) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Arterial Calcification, Generalized, Of Infancy, 2; Gaci2

  • Pica
  • Milia
  • Hypertension
  • Congestive heart failure
  • Dilatation
  • Papule
  • Tachycardia
  • Mitral regurgitation
  • Myocardial infarction
  • Cardiomegaly
And another 10 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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Arterial Calcification, Generalized, Of Infancy, 2; Gaci2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypophosphatemic Rickets Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
50 %
Hypophosphatemic Rickets Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
50 %
ENPP1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ENPP1
Specificity
100 %
Genes
50 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
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
Specificity
4 %
Genes
50 %
ENPP1 mutation analysis.

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

ENPP1
Specificity
100 %
Genes
50 %
ENPP1. Complete sequencing.

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

ENPP1
Specificity
100 %
Genes
50 %
Rickets (NGS panel for 10 genes).

By CGC Genetics in Portugal.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
50 %
Hypophosphatemic rickets (sequence analysis of ENPP1 gene).

By CGC Genetics in Portugal.

ENPP1
Specificity
100 %
Genes
50 %
Hypophosphatemic rickets, autosomal recessive, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ENPP1
Specificity
100 %
Genes
50 %
Hypophosphatemic Rickets, Autosomal Recessive 2.

By Exeter Molecular Genetics Laboratory in United Kingdom.

ENPP1
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum.

By Exeter Molecular Genetics Laboratory in United Kingdom.

ABCC6, ENPP1
Specificity
100 %
Genes
100 %
Generalized Arterial Calcification of Infancy via ENPP1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ENPP1
Specificity
100 %
Genes
50 %
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
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
Specificity
4 %
Genes
50 %
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
50 %
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCC6, ENPP1
Specificity
100 %
Genes
100 %
Abnormal mineralization disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Abnormal mineralization disorders Deletion/ Duplication Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Abnormal mineralization disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Arterial calcification, generalized, of infancy NGS panel.

By Connective Tissue Gene Tests in United States.

ABCC6, ENPP1
Specificity
100 %
Genes
100 %
Arterial calcification, generalized, of infancy Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCC6, ENPP1
Specificity
100 %
Genes
100 %
Arterial calcification, generalized, of infancy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCC6, ENPP1
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
Ectonucleotide pyrophosphatase / phosphodiesterase 1 (ENPP1).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

ENPP1
Specificity
100 %
Genes
50 %
Cole disease.

By Centogene AG - the Rare Disease Company in Germany.

ENPP1
Specificity
100 %
Genes
50 %
Arterial calcification type 1, generalized, infantile.

By Centogene AG - the Rare Disease Company in Germany.

ENPP1
Specificity
100 %
Genes
50 %
Hypophosphatemic rickets, autosomal recessive type 2.

By Centogene AG - the Rare Disease Company in Germany.

ENPP1
Specificity
100 %
Genes
50 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Hypophosphatemic rickets Panel.

By CeGaT GmbH in Germany.

SLC34A1, OCRL, FAH, VDR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1, KL
Specificity
10 %
Genes
50 %
Skeletal dysplasia with abnormal mineralization Panel.

By CeGaT GmbH in Germany.

ALPL, ANKH, SLC34A1, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, GNA11, AP2S1, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Pseudoxanthoma Elasticum (PXE) gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ABCC6, GGCX, ENPP1
Specificity
67 %
Genes
100 %
ENPP1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ENPP1
Specificity
100 %
Genes
50 %
Diabetes / Obesity preventive screening.

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA in United States.

MC4R, ENPP1
Specificity
50 %
Genes
50 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
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
50 %
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
50 %
ENPP1.

By Fulgent Genetics Fulgent Genetics in United States.

ENPP1
Specificity
100 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
50 %
Hypophosphatemic Rickets Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, FAH, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1, KL
Specificity
8 %
Genes
50 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
100 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
2 %
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
50 %
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
50 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics in Finland.

DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...)

View the complete list with 5 more genes
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
Specificity
1 %
Genes
50 %
Generalized arterial calcification of infancy.

By Bioarray in Spain.

ENPP1
Specificity
100 %
Genes
50 %
HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS) (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

ENPP1, DMP1
Specificity
50 %
Genes
50 %
HYPOPHOSPHATEMIC RICKETS AUTOSOMAL RECESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

ENPP1, DMP1
Specificity
50 %
Genes
50 %
FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
20 %
Genes
50 %
HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
20 %
Genes
50 %
Arterial Calcification Generalized of Infancy, Sequencing ENPP1 Gene.

By Reference Laboratory Genetics in Spain.

ENPP1
Specificity
100 %
Genes
50 %
Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
50 %
Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

ABCC6, XYLT2, VEGFA, GGCX, ENPP1, XYLT1
Specificity
34 %
Genes
100 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

PPARG, UCP1, UCP3, PPARGC1B, LEP, LEPR, POMC, MC4R, SIM1, NR0B2, ENPP1, CARTPT, MC3R, ADRB2, ADRB3, AGRP, GHRL, SDC3
Specificity
6 %
Genes
50 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
ABCC6 Gene Sequencing.

By GeneDx in United States.

ABCC6
Specificity
100 %
Genes
50 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Pseudoxanthoma Elasticum.

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

ABCC6
Specificity
100 %
Genes
50 %
ABCC6 mutation analysis.

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

ABCC6
Specificity
100 %
Genes
50 %
ABCC6. Sequencing of the exons 21,27, 29 and 30.

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

ABCC6
Specificity
100 %
Genes
50 %
ABCC6. MLPA testing.

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

ABCC6
Specificity
100 %
Genes
50 %
ABCC6. Detection of the deletion exon 23-29.

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

ABCC6
Specificity
100 %
Genes
50 %
ABCC6. Sequencing of the exons 24 and 28.

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

ABCC6
Specificity
100 %
Genes
50 %
ABCC6. Complete sequencing.

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

ABCC6
Specificity
100 %
Genes
50 %
ABCC6. NextGeneDx. Complete sequencing by NGS.

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

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum (sequence analysis of exons 24 and 28 of ABCC6 gene).

By CGC Genetics in Portugal.

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum (sequence analysis of ABCC6 gene).

By CGC Genetics in Portugal.

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum (deletion/duplication analysis of ABCC6 gene).

By CGC Genetics in Portugal.

ABCC6
Specificity
100 %
Genes
50 %
Arterial Calcification of Infancy2.

By Exeter Molecular Genetics Laboratory in United Kingdom.

ABCC6
Specificity
100 %
Genes
50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
50 %
Pseudoxanthoma elasticum Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
50 %
Pseudoxanthoma elasticum Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
50 %
Pseudoxanthoma elasticum NGS panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
50 %
Macrocephaly.

By MGZ Medical Genetics Center in Germany.

PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
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
50 %
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
50 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Cystic Fibrosis and CBAVD Testing.

By FirmaLab in United States.

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum, forme fruste.

By Centogene AG - the Rare Disease Company in Germany.

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum.

By Centogene AG - the Rare Disease Company in Germany.

ABCC6
Specificity
100 %
Genes
50 %
Arterial calcification type 2, generalized, infantile.

By Centogene AG - the Rare Disease Company in Germany.

ABCC6
Specificity
100 %
Genes
50 %
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
50 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
ABCC6 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ABCC6
Specificity
100 %
Genes
50 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
50 %
Pseudoxanthoma elasticum: ABCC6 gene sequence analysis and 16.4kb deletion analysis.

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

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum: ABCC6 gene deletions-duplicacions (MLPA) analysis.

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

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma elasticum: ABCC6 gene deletions analysis (16.4Kb 23-29) and sequence analysis (exons 24, 28).

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

ABCC6
Specificity
100 %
Genes
50 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
ABCC6.

By Fulgent Genetics Fulgent Genetics in United States.

ABCC6
Specificity
100 %
Genes
50 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
50 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Pseudoxanthoma elasticum.

By Bioarray in Spain.

ABCC6
Specificity
100 %
Genes
50 %
PSEUDOXANTHOMA ELASTICUM.

By Laboratorio de Genetica Clinica SL in Spain.

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma Elasticum , Sequencing ABCC6 Gene and Deletion 16.4 Kb.

By Reference Laboratory Genetics in Spain.

ABCC6
Specificity
100 %
Genes
50 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Pseudoxanthoma elasticum.

By Labor Dr. Wisplinghoff in Germany.

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma Elasticum: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ABCC6
Specificity
100 %
Genes
50 %
Pseudoxanthoma Elasticum: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ABCC6
Specificity
100 %
Genes
50 %

Alternate names

Arterial Calcification, Generalized, Of Infancy, 2; Gaci2 Is also known as ;idiopathic infantile arterial calcification; idiopathic obliterative arteriopathy; infantile arteriosclerosis; occlusive infantile arteriopathy.


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