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.

Genes related to Diarrhea 8, Secretory Sodium, Congenital; Diar8

SLC9A3
SPINT2

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 Panel GTR000553462 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 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 Panel GTR000553495 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 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 Panel GTR000553500 complete gene list EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2 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 Panel GTR000552661 complete gene list EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C, SPINT2, IL21, ADAM17, SLC10A2 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 Panel GTR000552643 complete gene list EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1, PEX1, TMEM216, CYP7B1, DCDC2, PEX6, TJP2, PEX26, PEX10, PEX12, PEX5, AKR1D1, LMF1, NEUROG3, VPS33B, VIPAS39, BAAT, ABCC2, TTC37, NOTCH2, HSD3B7, CREB3L3, LCT, SLC26A3, NR1H4, MYO5B, SPINT2 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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