Amish, Mennonite, and Hutterite
Genetic Disorder Database

Congenital Sodium Diarrhea

Disorder
OMIM #: #270420  (Click to access OMIM database)
Disorder: Congenital Sodium Diarrhea 
Also known as: Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3)
Diarrhea 3, secretory sodium, congenital, syndromic 
Clinical
Phenotype: polyhydramnios, diarrhea, metabolic acidosis, hyponatremia (secondary to fecal sodium losses), hypertelorism, anal atresia, choanal atresia, corneal erosions, preauricular pits 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
ReferencesHeinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. (2009) Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 84(2):188-96.
PubMed ID: 19185281
1   Amish  
Gene: SPINT2
Base Change: A>G, at nucleotide 488
Amino Acid Change: tyr 163 --> cys
Last updated: 2019-05-15 

References
Faller N, Gautschi I, Schild L. (2014) Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. PLoS One Apr 10;9(4):e94267.
PubMed ID: 24722141 
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. (2009) Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 84(2):188-96.
PubMed ID: 19185281 

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