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

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.

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.

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
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 %

You can get up to 1 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES DEAFNESS, AUTOSOMAL DOMINANT 56; DFNA56 FATAL FAMILIAL INSOMNIA; FFI DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR; DEDSSH DENYS-DRASH SYNDROME; DDS LISSENCEPHALY 5; LIS5 GALLOWAY-MOWAT SYNDROME 5; GAMOS5