Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome | |
| fr | Syndrome d'hypoplasie du pancréas-atrésie intestinale-hypoplasie de la vésicule biliaire | |
| de | Hypoplastischer Pankreas-Intestinalatresie-Hypoplastische Gallenblase-Syndrom | |
| es | Síndrome de hipoplasia del páncreas-atresia intestinal-hipoplasia de la vesícula biliar | |
| it | Sindrome da ipoplasia del pancreas e della cistifellea ed atresia intestinale | |
| nl | Hypoplastische pancreas - intestinale atresie - hypoplastische galblaas-syndroom | |
| pt | Síndrome pâncreas hipoplásico - atresia intestinal - bexiga hipoplásica | |
| pl | Zespół niedorozwoju trzustki, pęcherzyka żółciowego i atrezji jelit | |
| cs | Syndrom zahrnující hypoplázii pankreatu, střevní atrézii a hypoplastický žlučník | |
| uk | Синдром гіпопластичної підшлункової залози-атрезії кишечника-гіпопластичного жовчного міхура | |
| zh | 胰腺发育不良-肠闭锁-胆囊发育不良综合征 | |
| tr | Hipoplastik pankreas-intestinal atrezi-hipoplastik safra kesesi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615710 | BTNT | validated | |
| ICD-10 | Q45.8 | NTBT | attributed | validated |
| ICD-11 | LB2Y | NTBT | attributed | validated |
| MONDO | 0017400 | E | validated | |
| UMLS | C4751130 | E | validated | |
| GARD | 5237 | 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 (3):
- ORPHA:498350Syndromic biliary atresia
rare hepatic diseases - ORPHA:108969Syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:137862Martínez-Frías syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RFX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:21478 | ENSG00000185002 | 612659 | 6q22.1 | regulatory factor X6 | 21965172[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 21965172[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/293864
- This record as JSON: /data/d/293864.json