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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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Congenital secretory diarrhea, chloride type (24412005); Congenital chloridorrhea (24412005); Defective Cl^-^/HCO^-^>3< exchange in ileum AND/OR colon (24412005)
 
Gene (location): SLC26A3 (7q22.3-31.1)
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; and DIAR10 (618183), caused by mutation in the PLVAP gene (607647) on 19p13. [from OMIM]

Clinical features

Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Alkalosis
MedGen UID:
1410
Concept ID:
C0002063
Disease or Syndrome
A pathological condition that removes acid or adds base to 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.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
Hyperaldosteronism
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Metabolic alkalosis
MedGen UID:
113134
Concept ID:
C0220983
Disease or Syndrome
Abnormally increased pH levels in the blood due to excessive loss of acid and/or accumulation of base.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Premature birth
MedGen UID:
535197
Concept ID:
C0233315
Finding
The birth of a baby of less than 37 weeks of gestational age.
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
Hypochloremia
MedGen UID:
777036
Concept ID:
C0595901
Finding
An abnormally decreased chloride concentration in the blood.
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.
Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
A deficiency or slowing down of growth pre- and postnatally.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital secretory diarrhea, chloride type
Follow this link to review classifications for Congenital secretory diarrhea, chloride type in Orphanet.

Recent clinical studies

Diagnosis

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

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