Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies; Diar3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies; Diar3

SLC9A3
SLC9A3-AS1
SPINT2

Clinical Features

Top most frequent phenotypes and symptoms related to Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies; Diar3

Short stature
Hypertelorism
Micrognathia
Cleft palate
Low-set ears
Wide nasal bridge
Macrocephaly
Vomiting
Diarrhea
Syndactyly

And another 28 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies; Diar3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic, csd, sodium diarrhea, congenital.

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.

Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies; Diar3 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 (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 10 % Genes 67 %
Congenital Diarrhea Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 10 % Genes 67 %
Congenital Diarrhea Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 10 % Genes 67 %
SLC9A3. By Fulgent Genetics Fulgent Genetics (United States). SLC9A3 Specificity 100 % Genes 34 %
Congenital Diarrhea Panel. By Blueprint Genetics (Finland). SAR1B, SI, SKIV2L, SLC10A2, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, ADAM17, TTC7A, TTC37, CYP27A1, DGAT1, SLC26A3, GUCY2C, XIAP, IL10, IL10RA , (...) View the complete list with 7 more genes Panel complete gene list SAR1B, SI, SKIV2L, SLC10A2, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, ADAM17, TTC7A, TTC37, CYP27A1, DGAT1, SLC26A3, GUCY2C, XIAP, IL10, IL10RA, IL10RB, IL21, LCT, LIPA, MVK, MYO5B, NCF2 Specificity 8 % Genes 67 %
Congenital sodium diarrhea (sequence analysis of SPINT2 gene). By CGC Genetics (Portugal). SPINT2 Specificity 100 % Genes 34 %
SPINT2. By Division Human Genetics Medical University Innsbruck (Austria). SPINT2 Specificity 100 % Genes 34 %
SPINT2. By Fulgent Genetics Fulgent Genetics (United States). SPINT2 Specificity 100 % Genes 34 %

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Sources and references

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