ORPHA:53035
Caroli disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Caroli disease | |
| fr | Maladie de Caroli | |
| de | Caroli-Krankheit | |
| es | Enfermedad de Caroli | |
| it | Malattia di Caroli | |
| nl | Ziekte van Caroli | |
| pt | Doença de Caroli | |
| pl | Choroba Caroliego | |
| cs | Caroliho nemoc | |
| uk | Хвороба Каролі | |
| zh | Caroli病 | |
| tr | Caroli hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600643 | E | validated | |
| ICD-10 | Q44.6 | NTBT | attributed | validated |
| ICD-11 | LB20.00 | NTBT | index | validated |
| MONDO | 0010913 | E | validated | |
| MeSH | D016767 | E | validated | |
| UMLS | C0162510 | E | validated | |
| GARD | 6002 | E | validated | |
| MedDRA | 10013003 | 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 (4):
- ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:108971Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PKHD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9016 | ENSG00000170927 | 606702 | 6p12.3-p12.2 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 24710345[PMID]_26385851[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Validated | 14696493[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_15559623[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.
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HPO phenotypes
33 annotations · validated 2021-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001396 | Cholestasis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0030151 | Cholangitis | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0001406 | Intrahepatic cholestasis | |
| HP:0000952 | Jaundice | |
| Occasional (29-5%) | ||
| HP:0032545 | Abdominal rigidity | |
| HP:0002039 | Anorexia | |
| HP:0001541 | Ascites | |
| HP:0025143 | Chills | |
| HP:0001081 | Cholelithiasis | |
| HP:0001394 | Cirrhosis | |
| HP:0032106 | Conjunctival icterus | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0002040 | Esophageal varix | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002018 | Nausea | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0000989 | Pruritus | |
| HP:0001744 | Splenomegaly | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0002613 | Biliary cirrhosis | |
| HP:0030153 | Cholangiocarcinoma | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0100523 | Liver abscess | |
| HP:0001409 | Portal hypertension | |
| Excluded (0%) | ||
| HP:0045056 | Abnormal levels of alpha-fetoprotein | |
| HP:0001405 | Periportal fibrosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22908976[PMID]_30020679[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53035
- This record as JSON: /data/d/53035.json