Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | |
| fr | Diarrhée chronique infantile par hyperactivité de la guanylate cyclase 2C | |
| de | Diarrhoe, chronische, infantile, durch Guanylatcyclase 2C-Überaktivität | |
| es | Diarrea crónica infantil por hiperactividad de la guanilato-ciclasa 2C | |
| it | Diarrea cronica infantile da iperattività della guanilato ciclasi 2C | |
| nl | Chronische infantiele diarree door guanylaatcyclase 2C-overactiviteit | |
| pt | Diarreia crónica da infância por hiperatividade da guanilato ciclase 2C | |
| pl | Przewlekła biegunka wieku dziecięcego z powodu nadaktywności cyklazy guanylatowej 2C | |
| cs | Chronický průjem způsobený zvýšenou aktivitou guanylátcyklázy 2C | |
| uk | Хронічна інфантильна діарея внаслідок гіперактивності гуанілатциклази 2С | |
| zh | 鸟苷酸环化酶2C亢进慢性婴儿腹泻 | |
| tr | Guanilat siklaz 2C aşırı aktivitesinden kaynaklanan kronik infantil diyare |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614616 | E | validated | |
| ICD-10 | P78.3 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | attributed | validated |
| MONDO | 0013825 | E | validated | |
| UMLS | C5191644 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:717865Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GUCY2C | Disease-causing germline mutation(s) in | Assessed | HGNC:4688 | ENSG00000070019 | 601330 | 12p12.3 | guanylate cyclase 2C | 22436048[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 22436048[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314373
- This record as JSON: /data/d/314373.json