Arthrogryposis, Renal Dysfunction, And Cholestasis 2; Arcs2

Clinical Features

Top most frequent phenotypes and symptoms related to Arthrogryposis, Renal Dysfunction, And Cholestasis 2; Arcs2

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears
  • Ventricular septal defect
  • Jaundice
  • Elevated hepatic transaminase
  • Arthrogryposis multiplex congenita
  • Ichthyosis

And another 13 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Arthrogryposis, Renal Dysfunction, And Cholestasis 2; Arcs2 Recommended genes panels

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

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

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Liver Diseases Panel by next-generation sequencing (NGS).

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

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
VIPAS39 Sequencing.

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

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

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

SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cholestasis Del/Dup Panel.

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

SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %

You can get up to 25 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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