ORPHA:2924
Isolated polycystic liver disease
Synonyms: ADPCLD · Autosomal dominant polycystic liver disease · PCLD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated polycystic liver disease | ADPCLD · Autosomal dominant polycystic liver disease · PCLD |
| fr | Polykystose hépatique isolée | ADPCLD · PCLD · Polykystose hépatique autosomique dominante |
| de | Lebererkrankheit, isolierte polyzystische | Lebererkrankheit, polyzystische, autosomal-dominante Form · PCLD |
| es | Enfermedad poliquística hepática aislada | ADPCLD · Enfermedad poliquística hepática autosómica dominante · PCLD |
| it | Malattia epatica policistica isolata | ADPCLD · Malattia epatica policistica autosomica dominante · PCLD |
| nl | Geïsoleerde polycystische leverziekte | ADPCLD · Autosomaal dominante polycystische leverziekte · PCLD |
| pt | Doença hepática poliquística isolada | ADPCLD · Doença hepática poliquística autossómica dominante · PCLD |
| pl | Izolowana wielotorbielowatość wątroby | ADPCLD · Autosomalna dominująca wielotorbielowatość wątroby · PCLD |
| cs | Izolovaná polycystická nemoc jater | APDCLD · PCLD · Autozomálně dominantní polycystická nemoc jater |
| uk | Ізольований полікістоз печінки | ADPCLD · Аутосомно-домінантна полікістозна хвороба печінки · PCLD |
| zh | 孤立型多囊肝病 | 常染色体显性遗传性多囊肝病 |
| tr | İzole polikistik karaciğer hastalığı | PCLD · ADPCLD · Otozomal dominant polikistik karaciğer hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174050 | BTNT | validated | |
| OMIM | 617004 | BTNT | validated | |
| OMIM | 617874 | BTNT | validated | |
| OMIM | 617875 | BTNT | validated | |
| ICD-10 | Q44.6 | E | specific | validated |
| ICD-11 | DB99.10 | E | specific | validated |
| MONDO | 447 | E | validated | |
| MeSH | C536330 | E | validated | |
| UMLS | C4255088 | E | validated | |
| GARD | 9457 | E | validated | |
| MedDRA | 10048834 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG8 | Disease-causing germline mutation(s) in | Assessed | HGNC:23161 | ENSG00000159063 | 608103 | 11q14.1 | ALG8 alpha-1,3-glucosyltransferase | 28375157[PMID] |
| LRP5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 24706814[PMID] |
| PRKCSH | Disease-causing germline mutation(s) in | Assessed | HGNC:9411 | ENSG00000130175 | 177060 | 19p13.2 | PRKCSH beta subunit of glucosidase II | 24886261[PMID] |
| SEC63 | Disease-causing germline mutation(s) in | Assessed | HGNC:21082 | ENSG00000025796 | 608648 | 6q21 | SEC63 protein translocation regulator | 24886261[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
22 annotations · validated 2024-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002240 | Hepatomegaly | |
| HP:0006557 | Polycystic liver disease | |
| Frequent (79-30%) | ||
| HP:0033842 | Early satiety | |
| HP:0005562 | Multiple renal cysts | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0003418 | Back pain | |
| HP:0002617 | Dilatation | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0002094 | Dyspnea | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0003573 | Increased total bilirubin | |
| HP:0000952 | Jaundice | |
| HP:0010741 | Pedal edema | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32231761[PMID]_20219621[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2924
- This record as JSON: /data/d/2924.json