Chronic diarrhea due to guanylate cyclase 2C overactivity

General Information (adopted from Orphanet):

Synonyms, Signs: DIAR6
Number of Symptoms 17
OrphanetNr: 314373
OMIM Id: 614616
ICD-10: P78.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal motility disorder
 -Rare gastroenterologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000787) Nephrolithiasis 78 / 7739
2
(HPO:0002027) Abdominal pain rare [HPO:skoehler] 184 / 7739
3
(HPO:0002014) Diarrhea 225 / 7739
4
(HPO:0100280) Crohn's disease 3 / 7739
5
(HPO:0100502) Vitamin B12 deficiency rare [HPO:skoehler] 4 / 7739
6
(HPO:0003223) Decreased methylcobalamin 11 / 7739
7
(OMIM) Dehydration in infancy (in some patients) 1 / 7739
8
(OMIM) Esophagitis, with or without esophageal hernia (in some patients) 1 / 7739
9
(OMIM) Diarrhea, chronic, early-onset mild 1 / 7739
10
(OMIM) Small-bowel obstruction due to ileal inflammation (in some patients) 1 / 7739
11
(OMIM) Electrolyte disturbances in infancy (in some patients) 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Meteorism (gaseous distention of the stomach or intestine) 1 / 7739
14
(OMIM) Metabolic acidosis in infancy (in some patients) 1 / 7739
15
(OMIM) Small-bowel obstruction due to adhesions (in some patients) 1 / 7739
16
(OMIM) Small-bowel obstruction due to volvulus (in some patients) 1 / 7739
17
(MedDRA:10023003) Irritable bowel syndrome 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Diarrhea-6 (DIAR6) is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).
Clinical Description OMIM Fiskerstrand et al. (2012) studied 32 affected and 14 unaffected individuals from 3 branches of a large pedigree segregating autosomal dominant early-onset chronic diarrhea. The diarrhea started in infancy and was fairly constant over the years, but improved ...
Molecular genetics OMIM In a large pedigree with early-onset chronic diarrhea mapping to chromosome 12p, Fiskerstrand et al. (2012) sequenced the candidate gene GUCY2C (601330) and identified a heterozygous missense mutation (S840I; 601330.0001) that segregated with the disease and was not ...