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Congenital secretory diarrhea, sodium type(DIAR3)

MedGen UID:
78632
Concept ID:
C0267663
Congenital Abnormality
Synonyms: DIAR3; DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC; DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; SODIUM DIARRHEA, CONGENITAL
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, sodium type (18805001); Congenital sodium diarrhea (18805001); Defective Na^+^/H^+^ exchange in jejunum AND/OR ileum (18805001)
 
Gene (location): SPINT2 (19q13.2)
OMIM®: 270420
Orphanet: ORPHA103908

Clinical features

Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Choanal atresia
MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.
Cutis laxa
MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of elasticity resulting in loosening and folding of the skin.
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.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
An abnormal anatomical passage between the RECTUM and the VAGINA.
Coloboma of optic disc
MedGen UID:
57832
Concept ID:
C0155299
Disease or Syndrome
A cleft of the optic nerve that extends inferiorly.
Volvulus of midgut
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.
Ureteral duplication
MedGen UID:
66380
Concept ID:
C0221365
Congenital Abnormality
A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
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.
Corneal erosion
MedGen UID:
97882
Concept ID:
C0392163
Disease or Syndrome
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
Macrocephalus
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

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

Recent clinical studies

Etiology

Niederwanger C, Lechner S, König L, Janecke AR, Pototschnig C, Häussler B, Scholl-Bürgi S, Müller T, Heinz-Erian P
Eur J Med Res 2018 Mar 2;23(1):13. doi: 10.1186/s40001-018-0312-2. PMID: 29499739Free PMC Article
Faller N, Gautschi I, Schild L
PLoS One 2014;9(4):e94267. Epub 2014 Apr 10 doi: 10.1371/journal.pone.0094267. PMID: 24722141Free PMC Article

Diagnosis

Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A
Am J Med Genet A 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637. PMID: 29575628Free PMC Article

Therapy

Niederwanger C, Lechner S, König L, Janecke AR, Pototschnig C, Häussler B, Scholl-Bürgi S, Müller T, Heinz-Erian P
Eur J Med Res 2018 Mar 2;23(1):13. doi: 10.1186/s40001-018-0312-2. PMID: 29499739Free PMC Article
Holmberg C, Perheentupa J
J Pediatr 1985 Jan;106(1):56-61. PMID: 3880821

Prognosis

Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A
Am J Med Genet A 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637. PMID: 29575628Free PMC Article

Clinical prediction guides

Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A
Am J Med Genet A 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637. PMID: 29575628Free PMC Article

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