ORPHA:186
Primary biliary cholangitis
Synonyms: Hanot syndrome · PBC · Primary biliary cirrhosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Unknown
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary biliary cholangitis | Hanot syndrome · PBC · Primary biliary cirrhosis |
| fr | Cholangite biliaire primitive | CBP · Cirrhose biliaire primitive · Syndrome de Hanot |
| de | Cholangitis, primär biliäre | Hanot-Syndrom · PBC · Primäre biliäre Zirrhose |
| es | Colangitis biliar primaria | CBP · Cirrosis biliar primaria · Síndrome de Hanot |
| it | Colangite biliare primitiva | Sindrome di Hanot |
| nl | Primaire biliaire cholangitis | PBC · Primaire biliaire cirrose · Syndroom van Hanot |
| pt | Colangite biliar primária | Cirrose biliar primária · Síndrome Hanot |
| pl | Pierwotne zapalenie dróg żółciowych | PBC · Zespół Hanota · Pierwotna marskość żółciowa |
| cs | Primární biliární cirhóza | Hanotova cirhóza |
| uk | Первинний біліарний холангіт | Синдром Гано · PBC · Первинний біліарний цироз |
| zh | 原发型胆道胆管炎 | 原发性胆汁性肝硬化 |
| tr | Primer biliyer kolanjit | PBC · Hanot sendromu · Primer biliyer siroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109720 | BTNT | validated | |
| OMIM | 613007 | BTNT | validated | |
| OMIM | 613008 | BTNT | validated | |
| OMIM | 614220 | BTNT | validated | |
| OMIM | 614221 | BTNT | validated | |
| ICD-10 | K74.3 | E | specific | validated |
| ICD-11 | DB96.1 | E | specific | validated |
| MONDO | 0005388 | E | validated | |
| MeSH | D008105 | E | validated | |
| UMLS | C0008312 | E | validated | |
| GARD | 7459 | E | validated | |
| MedDRA | 10080429 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL12A | Major susceptibility factor in | Not yet assessed | HGNC:5969 | ENSG00000168811 | 161560 | 3q25.33 | interleukin 12A | |
| IL12RB1 | Major susceptibility factor in | Not yet assessed | HGNC:5971 | ENSG00000096996 | 601604 | 19p13.11 | interleukin 12 receptor subunit beta 1 | |
| IRF5 | Major susceptibility factor in | Not yet assessed | HGNC:6120 | ENSG00000128604 | 607218 | 7q32.1 | interferon regulatory factor 5 | |
| MMEL1 | Major susceptibility factor in | Not yet assessed | HGNC:14668 | ENSG00000142606 | 618104 | 1p36.32 | membrane metalloendopeptidase like 1 | |
| POU2AF1 | Major susceptibility factor in | Assessed | HGNC:9211 | ENSG00000110777 | 601206 | 11q23.1 | POU class 2 homeobox associating factor 1 | 23000144[PMID] |
| SPIB | Major susceptibility factor in | Not yet assessed | HGNC:11242 | ENSG00000269404 | 606802 | 19q13.33 | Spi-B transcription factor | |
| TNFSF15 | Major susceptibility factor in | Assessed | HGNC:11931 | ENSG00000181634 | 604052 | 9q32 | TNF superfamily member 15 | 23000144[PMID] |
| TNPO3 | Major susceptibility factor in | Not yet assessed | HGNC:17103 | ENSG00000064419 | 610032 | 7q32.1 | transportin 3 |
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Prevalence and incidence
28 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.57 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 21.05 / 100 000 | Worldwide | Value and class | Validated | [EXPERT]_22245904[PMID] |
| Annual incidence | 1-9 / 100 000 | 3 / 100 000 | Worldwide | Value and class | Validated | 22245904[PMID] |
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Europe | Value and class | Validated | 17873609[PMID]_22562114[PMID]_24387641[PMID]_17918011[PMID]_22961000[PMID]_10421645[PMID]_9279616[PMID]_20347176[PMID]_24502439[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.9 / 100 000 | France | Value and class | Validated | 20347176[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.7 / 100 000 | Spain | Value and class | Validated | 17873609[PMID] |
| Point prevalence | 1-5 / 10 000 | 19.5 / 100 000 | Spain | Value and class | Validated | 17873609[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.5 / 100 000 | Iceland | Value and class | Validated | 22562114[PMID] |
| Point prevalence | 1-5 / 10 000 | 38.3 / 100 000 | Iceland | Value and class | Validated | 22562114[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.1 / 100 000 | Netherlands | Value and class | Validated | 24387641[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.2 / 100 000 | Netherlands | Value and class | Validated | 24387641[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.7 / 100 000 | Denmark | Value and class | Validated | 17918011[PMID] |
| Point prevalence | 1-5 / 10 000 | 12 / 100 000 | Denmark | Value and class | Validated | 17918011[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.7 / 100 000 | Finland | Value and class | Validated | 17918011[PMID] |
| Point prevalence | 1-5 / 10 000 | 18 / 100 000 | Finland | Value and class | Validated | 17918011[PMID] |
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | United Kingdom | Value and class | Validated | 22961000[PMID]_9279616[PMID]_10421645[PMID] |
| Annual incidence | 1-9 / 100 000 | 4.5 / 100 000 | United States | Value and class | Validated | 11113084[PMID] |
| Point prevalence | 1-5 / 10 000 | 40.2 / 100 000 | United States | Value and class | Validated | 11113084[PMID] |
| Annual incidence | 1-9 / 100 000 | 3 / 100 000 | Canada | Value and class | Validated | 19821525[PMID] |
| Point prevalence | 1-5 / 10 000 | 22.7 / 100 000 | Canada | Value and class | Validated | 19821525[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.1 / 100 000 | Australia | Value and class | Validated | 15300579[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.5 / 100 000 | Israel | Value and class | Validated | 16308995[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.9 / 100 000 | China | Value and class | Validated | 20815889[PMID] |
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Brunei Darussalam | Value and class | Validated | 21134832[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.6 / 100 000 | Brunei Darussalam | Value and class | Validated | 21134832[PMID] |
| Point prevalence | 1-5 / 10 000 | 36.5 / 100 000 | Greece | Value and class | Validated | 24502439[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.1 / 100 000 | Greece | Value and class | Validated | 24502439[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.3 / 100 000 | United Kingdom | Value and class | Validated | 10421645[PMID]_9279616[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.
6
HPO phenotypes
41 annotations · validated 2023-08-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030167 | Antimitochondrial antibody positivity | |
| HP:0002613 | Biliary cirrhosis | |
| HP:0001394 | Cirrhosis | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0011971 | Dermatographic urticaria | |
| HP:0000953 | Hyperpigmentation of the skin | |
| Frequent (79-30%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0011040 | Abnormality of the intrahepatic bile duct | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002960 | Autoimmunity | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Diagnostic criterion |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0001399 | Hepatic failure | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0002240 | Hepatomegaly | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003496 | Increased circulating IgM level | |
| HP:0000952 | Jaundice | |
| HP:0012203 | Onychomycosis | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0001409 | Portal hypertension | |
| HP:0000989 | Pruritus | |
| HP:0002841 | Recurrent fungal infections | |
| HP:0001114 | Xanthelasma | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001541 | Ascites | |
| HP:0002608 | Celiac disease | |
| HP:0002040 | Esophageal varix | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0012378 | Fatigue | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0012115 | Hepatitis | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0003261 | Increased circulating IgA level | |
| HP:0000939 | Osteoporosis | |
| HP:0002360 | Sleep abnormality | |
| HP:0001744 | Splenomegaly | |
| HP:0002570 | Steatorrhea | |
| Very rare (<4-1%) | ||
| HP:0004386 | Gastrointestinal inflammation | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26261733[PMID]_27465943[PMID]_26167070[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/186
- This record as JSON: /data/d/186.json