SPINT2 gene related symptoms and diseases
All the information presented here about the SPINT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPINT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Vomiting | Very Common - Between 80% and 100% cases |
| Acidosis | Very Common - Between 80% and 100% cases |
| Polyhydramnios | Very Common - Between 80% and 100% cases |
| Metabolic acidosis | Very Common - Between 80% and 100% cases |
| Abdominal distention | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SPINT2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Diarrhea
- Secretory diarrhea
Not very common - Between 30% and 50% cases
- Preauricular pit
- Choanal atresia
- Abnormal intestine morphology
- Cutis laxa
- Hyponatremia
- Keratitis
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPINT2 gene
Here you will find a list of rare diseases related to the SPINT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL SODIUM DIARRHEA
Alternate names
CONGENITAL SODIUM DIARRHEA Is also known as diarrhea, congenital sodium, csd, na-h exchange deficiency
Description
Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
Most common symptoms of CONGENITAL SODIUM DIARRHEA
- Vomiting
- Diarrhea
- Acidosis
- Polyhydramnios
- Metabolic acidosis
More info about CONGENITAL SODIUM DIARRHEA
DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3
Alternate 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
Most common symptoms of DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3
- Short stature
- Hypertelorism
- Micrognathia
- Cleft palate
- Low-set ears
More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3
SOURCES: OMIM
Search interest in SPINT2
Potential gene panels for SPINT2 gene
Congenital Diarrhea Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital sodium diarrhea (sequence analysis of SPINT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPINT2 gene.
More info about this panel Portugal.
SPINT2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the SPINT2 gene.
More info about this panel Austria.
SPINT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPINT2 gene.
More info about this panel United States.
Cholestasis Panel Panel
Finland.
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panel Finland.
Congenital Diarrhea Panel Panel
Finland.
By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3
More info about this panel Finland.
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