Diarrhea 8, Secretory Sodium, Congenital; Diar8

Description

Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.

Clinical Features

Phenotypes and symptoms related to Diarrhea 8, Secretory Sodium, Congenital; Diar8

  • Diarrhea
  • Vomiting
  • Polyhydramnios
  • Acidosis
  • Metabolic acidosis
  • Abdominal distention
  • Inflammation of the large intestine
  • Intestinal obstruction
  • Bloody diarrhea
  • Secretory diarrhea

Incidence and onset information

Not enough data available about incidence and published cases.


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Diarrhea 8, Secretory Sodium, Congenital; Diar8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Diarrhea Seq Analysis.

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

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

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

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

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Congenital Diarrhea Seq + Del/Dup Panel.

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

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
SLC9A3.

By Fulgent Genetics Fulgent Genetics in United States.

SLC9A3
Specificity
100 %
Genes
50 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Congenital sodium diarrhea (sequence analysis of SPINT2 gene).

By CGC Genetics in Portugal.

SPINT2
Specificity
100 %
Genes
50 %
SPINT2.

By Division Human Genetics Medical University Innsbruck in Austria.

SPINT2
Specificity
100 %
Genes
50 %
SPINT2.

By Fulgent Genetics Fulgent Genetics in United States.

SPINT2
Specificity
100 %
Genes
50 %
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
3 %
Genes
50 %

Alternate names

Diarrhea 8, Secretory Sodium, Congenital; Diar8 Is also known as diarrhea, congenital sodium;csd;na-h exchange deficiency.



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