Arthrogryposis, Renal Dysfunction, And Cholestasis 1; Arcs1

Description

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

Clinical Features

Top most frequent phenotypes and symptoms related to Arthrogryposis, Renal Dysfunction, And Cholestasis 1; Arcs1

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Micrognathia
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Low-set ears
  • Ventricular septal defect
And another 45 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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Arthrogryposis, Renal Dysfunction, And Cholestasis 1; Arcs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
100 %
Cholestasis Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, CYP7B1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7
Specificity
12 %
Genes
100 %
VIPAS39 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VIPAS39
Specificity
100 %
Genes
50 %
Cholestasis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Cholestasis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, CFTR, LIPA, NPC1, NPC2, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, NOTCH2, HSD3B7, NR1H4 , (...)

View the complete list with 1 more genes
Specificity
10 %
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
50 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
50 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics in Portugal.

SRD5A3, SHOC2, SUMF1, TGM1, VIPAS39, STIM1, TGM5, PIGL, RIN2, SNAP29, SLC27A4, SPINK5, SLURP1, STS, PNPLA1, POMP, ST14, PSAT1
Specificity
6 %
Genes
50 %
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
50 %
Arthrogryposis, renal dysfunction, and cholestasis 2.

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

VIPAS39
Specificity
100 %
Genes
50 %
Cholestasis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, CLDN1, NOTCH2, HSD3B7, NR1H4
Specificity
14 %
Genes
100 %
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAR Gene.

By PreventionGenetics PreventionGenetics in United States.

VIPAS39
Specificity
100 %
Genes
50 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Congenital contracture syndrome extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, MUSK, CHRNA1, CHRND, CHRNG, GLE1, NEK9, GLDN, ADGRG6, ADCY6, CNTNAP1, ZBTB42, MYBPC1, ZMPSTE24, PIP5K1C, ERBB3, VPS33B , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders NGS Panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, MUSK, CHRNA1, CHRND, CHRNG, GLE1, NEK9, GLDN, ADGRG6, ADCY6, CNTNAP1, ZBTB42, MYBPC1, ZMPSTE24, PIP5K1C, ERBB3, VPS33B , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, MUSK, CHRNA1, CHRND, CHRNG, GLE1, NEK9, GLDN, ADGRG6, ADCY6, CNTNAP1, ZBTB42, MYBPC1, ZMPSTE24, PIP5K1C, ERBB3, VPS33B , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
100 %
Arthrogryposis, renal dysfunction, and cholestasis type 2.

By Centogene AG - the Rare Disease Company in Germany.

VIPAS39
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 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
100 %
VIPAS39.

By Fulgent Genetics Fulgent Genetics in United States.

VIPAS39
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
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
100 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
3 %
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
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 %
Arthrogryposis-Renal Dysfunction-Cholestasis NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

VPS33B, VIPAS39
Specificity
100 %
Genes
100 %
VIPAS39 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

VIPAS39
Specificity
100 %
Genes
50 %
Arthrogryposis - Renal Dysfunction - Cholestasis Type 2 , Sequencing VIPAS39 Gene.

By Reference Laboratory Genetics in Spain.

VIPAS39
Specificity
100 %
Genes
50 %
VPS33B Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VPS33B
Specificity
100 %
Genes
50 %
VPS33B.

By Institute for Human Genetics University Clinic Freiburg in Germany.

VPS33B
Specificity
100 %
Genes
50 %
Arthrogryposis, renal dysfunction and cholestasis 1 (sequence analysis of VPS33B gene).

By CGC Genetics in Portugal.

VPS33B
Specificity
100 %
Genes
50 %
Arthrogryposis, renal dysfunction, and cholestasis 1.

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

VPS33B
Specificity
100 %
Genes
50 %
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene.

By PreventionGenetics PreventionGenetics in United States.

VPS33B
Specificity
100 %
Genes
50 %
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 %
VPS33B-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

VPS33B
Specificity
100 %
Genes
50 %
Arthrogryposis, renal dysfunction and cholestasis.

By Centogene AG - the Rare Disease Company in Germany.

VPS33B
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 %
VPS33B.

By Fulgent Genetics Fulgent Genetics in United States.

VPS33B
Specificity
100 %
Genes
50 %
VPS33B Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

VPS33B
Specificity
100 %
Genes
50 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Arthrogryposis - Renal Dysfunction - Cholestasis Type 1 , Sequencing VPS33B Gene.

By Reference Laboratory Genetics in Spain.

VPS33B
Specificity
100 %
Genes
50 %

Alternate names

Arthrogryposis, Renal Dysfunction, And Cholestasis 1; Arcs1 Is also known as arc syndrome;arcs;arc syndrome.



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