CONGENITAL CHLORIDE DIARRHEA

Question 1

What is  CONGENITAL CHLORIDE DIARRHEA?

Accepted Answer

rare
1:5500 (Saudi Arabia) 1:30000 (Finland)
autosomal recessive
mutation in the SLC26A3 gene, missense mutations in GUCY2C
common metabolic disorder in Saudi children

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Chlorid-Diarrhoe, kongenitale

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 214700

Question 4

Which enzymes are involved?

Accepted Answer

Chloride anion exchanger

Disease	CONGENITAL CHLORIDE DIARRHEA
Synonym	DIARRHEA, CONGENITAL CHLORIDE, CLD, DARROW-GAMBLE DISEASE
OMIM	214700 OMIM = Online Mendelian Inheritance of Men
Orphanet	53689
Protein (UniProt)	Chloride anion exchanger
Gene locus	7q22-q31.1
ICD	P78.3
Summary	rare 1:5500 (Saudi Arabia) 1:30000 (Finland) autosomal recessive mutation in the SLC26A3 gene, missense mutations in GUCY2C common metabolic disorder in Saudi children
Laboratory findings	Aldosterone inc (plasma) Chloride inc (stool) Chloride dec (serum) Potassium dec (serum) Sodium dec (serum)
Symptoms	abdominal distension dehydration diarrhea failure to thrive growth retardation, poor growth hyperaldosteronism ileus jaundice metabolic alkalosis onset, fetus onset, neonatal polyhydramnion (maternal)