Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Synonyms: Meconium ileus due to guanylate cyclase 2C deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the <i>GUCY2C</i> gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | Meconium ileus due to guanylate cyclase 2C deficiency |
| fr | Occlusion intestinale du nouveau-né par déficit en guanylate cyclase 2C | Iléus méconial par déficit en guanylate cyclase 2C |
| de | Intestinale Obstruktion des Neugeborenen durch Guanylatcyclasen 2C-Mangel | Mekoniumileus durch Guanylatcyclasen 2C-Mangel |
| es | Obstrucción intestinal en el recién nacido por deficiencia de guanilato-ciclasa 2C | Íleo meconial por deficiencia de guanilato-ciclasa 2C |
| it | Ostruzione intestinale nel neonato da deficit di guanilato ciclasi 2C | Ileo meconiale da deficit di guanilato ciclasi 2C |
| nl | Intestinale obstructie bij neonaat door gyanylaatcyclase 2C-deficiëntie | Meconiumileus door guanylaatcyclase 2C-deficiëntie |
| pt | Obstrução intestinal no recém-nascido por deficiência de guanilato ciclase 2C | Íleo meconial por deficiência de guanilato ciclase 2C |
| pl | Niedrożność jelita u noworodka z powodu niedoboru cyklazy guanylowej 2C | Niedrożność smółkowa z powodu niedoboru cyklazy guanylowej 2C |
| cs | Mekoniový ileus způsobený deficitem guanylátcyklázy 2C | Střevní obstrukce u novorozence způsobená deficitem guanylátcyklázy 2C |
| uk | Кишкова непрохідність у новонароджених внаслідок дефіциту гуанілатциклази 2С | Меконіальний ілеус внаслідок дефіциту гуанілатциклази 2С |
| zh | 鸟苷酸环化酶2C缺乏所致新生儿肠梗阻 | 鸟苷酸环化酶2C缺乏所致胎粪性肠梗阻 |
| tr | Yenidoğanda guanilat siklaz 2C eksikliğine bağlı bağırsak tıkanıklığı | Guanilat siklaz 2C eksikliğine bağlı mekonyum ileus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614665 | E | validated | |
| ICD-10 | P76.0 | NTBT | attributed | validated |
| ICD-11 | KB87.Y | NTBT | attributed | validated |
| MONDO | 0013843 | E | validated | |
| UMLS | C4518781 | 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 (1):
- 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 | 22521417[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 22521417[PMID]_25370039[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22521417[PMID]_25370039[PMID] |
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/314376
- This record as JSON: /data/d/314376.json