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, sodium 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: | 2022-11-03 |
| 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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