Renal-hepatic-pancreatic dysplasia
Synonyms: Ivemark II syndrome · Renohepaticopancreatic dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal-hepatic-pancreatic dysplasia | Ivemark II syndrome · Renohepaticopancreatic dysplasia |
| fr | Dysplasie réno-hépato-pancréatique | Dysplasie réno-hépatico-pancréatique · Syndrome Ivemark II |
| de | Reno-hepato-pankreatische Dysplasie | Ivemark II-Syndrom |
| es | Displasia renal-hepática-pancreática | Displasia renohepaticopancreática · Síndrome de Ivemark II |
| it | Displasia renale-epatico-pancreatica | Displasia reno-epato-pancreatica · Sindrome di Ivemark II |
| nl | Renale-hepatische-pancreatische dysplasie | Ivemark II-syndroom · Reno-hepatico-pancreatische dysplasie |
| pt | Displasia renal-hepática-pancreática | Displasia renohepaticopancreática · Síndrome de Ivemark II |
| pl | Dysplazja nerkowo-wątrobowo-trzustkowa | Zespół Ivemarka II |
| cs | Ivemarkův syndrom, typ II | Dysplázie ledvin, jater a pankreatu · Renohepatopankreatická dysplázie |
| uk | Нирково-печінково-підшлункова дисплазія | Синдром Івемарка II · Реногепатопанкреатична дисплазія |
| zh | 肾-肝-胰发育不良 | 肾肝胰发育不良 |
| tr | Böbrek-hepatik-pankreatik displazisi | Ivemark II sendromu · Renohepatikpankreatik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208540 | BTNT | validated | |
| OMIM | 615415 | BTNT | validated | |
| ICD-10 | Q45.8 | NTBT | attributed | validated |
| ICD-11 | LB2Y | NTBT | attributed | validated |
| MONDO | 0017417 | E | validated | |
| MeSH | C567142 | E | validated | |
| UMLS | C2673883 | 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 (7):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156180Retinal ciliopathy due to mutation in nephronophthisis gene
rare genetic diseases - 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.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEK8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13387 | ENSG00000160602 | 609799 | 17q11.2 | NIMA related kinase 8 | 23418306[PMID] |
| NPHP3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7907 | ENSG00000113971 | 608002 | 3q22.1 | nephrocystin 3 | 20007846[PMID]_18371931[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
34 annotations · validated 2025-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0000110 | Renal dysplasia | |
| Frequent (79-30%) | ||
| HP:0030146 | Abnormal liver parenchyma morphology | |
| HP:0030992 | Abnormal pancreatic duct morphology | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0000105 | Enlarged kidney | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0006566 | Neonatal cholestatic liver disease | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001562 | Oligohydramnios | |
| HP:0005232 | Pancreatic dysplasia | |
| HP:0100732 | Pancreatic fibrosis | |
| HP:0000107 | Renal cyst | |
| HP:0000083 | Renal insufficiency | |
| HP:0100651 | Type I diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001746 | Asplenia | |
| HP:0001394 | Cirrhosis | |
| HP:0004890 | Elevated pulmonary artery pressure | |
| HP:0001407 | Hepatic cysts | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0410288 | Hyperamylasemia | |
| HP:0033478 | Increased circulating lipoprotein lipase concentration | |
| HP:0000952 | Jaundice | |
| HP:0001790 | Nonimmune hydrops fetalis | |
| HP:0001737 | Pancreatic cysts | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0000104 | Renal agenesis | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17605805[PMID]_32341812[PMID]_32714619[PMID]_36253741[PMID]_36756677[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294415
- This record as JSON: /data/d/294415.json