U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital secretory sodium diarrhea 8(CSD; DIAR8)

MedGen UID:
1783137
•Concept ID:
C5441928
•
Disease or Syndrome
Synonyms: CSD; DIAR8; DIARRHEA 8, SECRETORY SODIUM, CONGENITAL; DIARRHEA, CONGENITAL SODIUM
 
Gene (location): SLC9A3 (5p15.33)
 
Monarch Initiative: MONDO:0014808
OMIM®: 616868

Definition

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene. [from MONDO]

Clinical features

From HPO
Abdominal distention
MedGen UID:
34
•Concept ID:
C0000731
•
Finding
Distention of the abdomen.
See: Feature record | Search on this feature
Secretory diarrhea
MedGen UID:
75635
•Concept ID:
C0267557
•
Disease or Syndrome
Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
See: Feature record | Search on this feature
Inflammation of the large intestine
MedGen UID:
662273
•Concept ID:
C0578878
•
Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
See: Feature record | Search on this feature
Elevated fecal sodium
MedGen UID:
1695106
•Concept ID:
C5139375
•
Finding
An elevated concentration of sodium in feces.
See: Feature record | Search on this feature
Polyhydramnios
MedGen UID:
6936
•Concept ID:
C0020224
•
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Diagnosis

Congenital sodium diarrhea in a neonate presenting as acute renal failure.
Al Makadma AS, Al-Akash SI, Al Dalaan I, Al Turaiki M, Shabib SM
Pediatr Nephrol 2004 Aug;19(8):905-7. Epub 2004 Jun 4 doi: 10.1007/s00467-004-1523-z. PMID: 15179572

Therapy

Does primary salt wasting occur in 11-beta-hydroxylase deficiency?
Singer-Granick C, Hill ID, Rolston RK
J Pediatr Endocrinol Metab 1995 Oct-Dec;8(4):275-80. doi: 10.1515/jpem.1995.8.4.275. PMID: 8821905

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...