Congenital sodium diarrhea

General Information (adopted from Orphanet):

Synonyms, Signs: SODIUM DIARRHEA, CONGENITAL
CSD DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, INCLUDED
DIAR3
Na-H exchange deficiency
Number of Symptoms 17
OrphanetNr: 103908
OMIM Id: 270420
ICD-10: P78.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal transport defect
 -Rare gastroenterologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000073) Ureteral duplication rare [HPO:skoehler] 11 / 7739
2
(HPO:0000143) Rectovaginal fistula rare [HPO:skoehler] 18 / 7739
3
(HPO:0000256) Macrocephaly rare [HPO:skoehler] 298 / 7739
4
(HPO:0000453) Choanal atresia 76 / 7739
5
(HPO:0000316) Hypertelorism 644 / 7739
6
(HPO:0000588) Optic nerve coloboma rare [HPO:skoehler] 27 / 7739
7
(HPO:0200020) Corneal erosion 12 / 7739
8
(HPO:0000369) Low-set ears rare [HPO:skoehler] 372 / 7739
9
(HPO:0001561) Polyhydramnios 191 / 7739
10
(HPO:0003270) Abdominal distention 46 / 7739
11
(HPO:0002023) Anal atresia rare [HPO:skoehler] 135 / 7739
12
(HPO:0002566) Intestinal malrotation rare [HPO:skoehler] 89 / 7739
13
(HPO:0005208) Secretory diarrhea 2 / 7739
14
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
15
(OMIM) Congenital secretory sodium diarrhea 1 / 7739
16
(OMIM) Abdominal distention at birth 1 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Holmberg and Perheentupa (1985) and Booth et al. (1985) described a form of congenital secretory diarrhea due to defective sodium/hydrogen exchange. The clinical presentation and course in the patient of Booth et al. (1985) closely resembled that of ...
Molecular genetics OMIM In a male infant who died at age 13 months from congenital sodium diarrhea, from a consanguineous Austrian CSD kindred with the associated features of choanal atresia, hypertelorism, and corneal erosions previously reported by Muller et al. (2000), ...