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Congenital secretory diarrhea, chloride type(DIAR1)

MedGen UID:
78631
Concept ID:
C0267662
Disease or Syndrome
Synonyms: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE; Chloridorrhea, congenital; Congenital chloride diarrhea; Darrow-Gamble disease; DIAR1; Diarrhea 1, secretory chloride, congenital; Familial Chloride Diarrhea
SNOMED CT: Congenital secretory diarrhea, chloride type (24412005); Congenital chloridorrhea (24412005); Defective Cl^-^/HCO^-^>3< exchange in ileum AND/OR colon (24412005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC26A3 (7q22.3-31.1)
 
Monarch Initiative: MONDO:0008964
OMIM®: 214700
Orphanet: ORPHA53689

Definition

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 the renal disorder Bartter syndrome (see 607364), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). Genetic Heterogeneity of Diarrhea Other forms of diarrhea include DIAR2 (251850), caused by mutation in the MYO5B gene (606540) on 18q21; DIAR3 (270420), caused by mutation in the SPINT2 gene (605124) on 19q13; DIAR4 (610370), caused by mutation in the NEUROG3 gene (604882) on 10q21; DIAR5 (613217), caused by mutation in the EPCAM gene (185535) on 2p21; DIAR6 (614616), caused by mutation in the GUCY2C gene (601330) on 12p12; DIAR7 (615863) caused by mutation in the DGAT1 gene (604900) on 8q24; DIAR8 (616868), caused by mutation in the SLC9A3 gene (182307) on 5p15; DIAR9 (618168), caused by mutation in the WNT2B gene (601968) on 1p13; DIAR10 (618183), caused by mutation in the PLVAP gene (607647) on 19p13; DIAR11 (618662), caused by deletion of the intestine critical region (ICR) on chromosome 16p13, resulting in loss of expression of the flanking gene PERCC1 (618656); and DIAR12 (619445), caused by mutation in the STX3 gene (600876) on 11q12. [from OMIM]

Clinical features

From HPO
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Alkalosis
MedGen UID:
1410
Concept ID:
C0002063
Disease or Syndrome
Depletion of acid or accumulation base in the body fluids.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Hypochloremia
MedGen UID:
39088
Concept ID:
C0085680
Disease or Syndrome
An abnormally decreased chloride concentration in the blood.
Metabolic alkalosis
MedGen UID:
113134
Concept ID:
C0220983
Disease or Syndrome
Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
Birth when a fetus is less than 37 weeks and 0 days gestational age.
Hyperaldosteronism
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
Hyperactive renin-angiotensin system
MedGen UID:
335401
Concept ID:
C1846345
Finding
An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.

Recent clinical studies

Diagnosis

Eğrıtaş O, Dalgiç B, Wedenoja S
Turk J Gastroenterol 2011 Jun;22(3):321-3. PMID: 21805424

Clinical prediction guides

Forteza R, Ahsan MK, Cartón-García F, Arango D, Ameen NA, Salas PJ
Mol Biol Cell 2019 Dec 15;30(26):3076-3089. Epub 2019 Oct 30 doi: 10.1091/mbc.E18-07-0415. PMID: 31664880Free PMC Article

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