Congenital chloride diarrhea

General Information (adopted from Orphanet):

Synonyms, Signs: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE
CHLORIDORRHEA, CONGENITAL
DIAR1
Number of Symptoms 20
OrphanetNr: 53689
OMIM Id: 214700
ICD-10: P78.3
UMLs: C0267662
MeSH: C536210
MedDRA:
Snomed: 24412005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
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:0000841) Hyperactive renin-angiotensin system 7 / 7739
2
(HPO:0000859) Hyperaldosteronism 17 / 7739
3
(HPO:0001622) Premature birth 100 / 7739
4
(HPO:0001561) Polyhydramnios 191 / 7739
5
(HPO:0003270) Abdominal distention 46 / 7739
6
(HPO:0002028) Chronic diarrhea 51 / 7739
7
(HPO:0002014) Diarrhea 225 / 7739
8
(HPO:0001508) Failure to thrive 454 / 7739
9
(HPO:0001510) Growth delay 295 / 7739
10
(HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
11
(HPO:0001944) Dehydration 59 / 7739
12
(HPO:0003113) Hypochloremia 7 / 7739
13
(HPO:0002902) Hyponatremia 37 / 7739
14
(HPO:0200114) Metabolic alkalosis 6 / 7739
15
(HPO:0002900) Hypokalemia 45 / 7739
16
(OMIM) Increased serum bicarbonate 2 / 7739
17
(OMIM) Diarrhea contains high chloride levels 1 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Juxtaglomerular hyperplasia due to activation of the renin-aldosterone axis 1 / 7739
20
(OMIM) Hypotension due to volume depletion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles ...
Clinical Description OMIM This disorder was first described by Gamble et al. (1945) and Darrow (1945). Voluminous watery stools containing an excess of chloride are present from a few weeks of age. The children are often premature. Hydramnios, presumably due to ...
Molecular genetics OMIM Hoglund et al. (2001) stated that a total of 3 founder and 17 private mutations in the SLC26A3 gene (see, e.g., 126650.0001) underlying congenital chloride diarrhea had been described in various ethnic groups. They screened for mutations in ...
Population genetics OMIM Holmberg and Perheentupa (1980) estimated that 31 cases of congenital chloride diarrhea in 21 families have been identified in Finland as compared with 30 cases in 24 families elsewhere. Lubani et al. (1989) identified 16 affected Kuwaiti children ...