ORPHA:171
Primary sclerosing cholangitis
Synonyms: PSC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary sclerosing cholangitis | PSC |
| fr | Cholangite sclérosante primitive | = en |
| de | Primäre sklerosierende Cholangitis | = en |
| es | Colangitis esclerosante primaria | = en |
| it | Colangite sclerosante primitiva | = en |
| nl | Primaire scleroserende cholangitis | = en |
| pt | Colangite esclerosante primária | |
| pl | Pierwotne stwardniające zapalenie dróg żółciowych | = en |
| cs | Primární sklerozující cholangitida | = en |
| uk | Первинний склерозуючий холангіт | = en |
| zh | 原发性硬化性胆管炎 | = en |
| tr | Primer sklerozan kolanjit | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602114 | BTNT | validated | |
| OMIM | 613806 | E | validated | |
| ICD-10 | K83.0 | NTBT | inclusion | validated |
| ICD-11 | DB96.2 | E | specific | validated |
| MONDO | 0013433 | E | validated | |
| UMLS | C0566602 | E | validated | |
| GARD | 1280 | E | validated | |
| MedDRA | 10036732 | 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 (1):
- ORPHA:447771Sclerosing cholangitis
rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEMA4D | Disease-causing germline mutation(s) in | Assessed | HGNC:10732 | ENSG00000187764 | 601866 | 9q22.2 | semaphorin 4D | 33627483[PMID] |
| GPR35 | Major susceptibility factor in | Assessed | HGNC:4492 | ENSG00000178623 | 602646 | 2q37.3 | G protein-coupled receptor 35 | 22821403[PMID] |
| MST1 | Major susceptibility factor in | Assessed | HGNC:7380 | ENSG00000173531 | 142408 | 3p21.31 | macrophage stimulating 1 | 21151127[PMID] |
| TCF4 | Major susceptibility factor in | Assessed | HGNC:11634 | ENSG00000196628 | 602272 | 18q21.2 | transcription factor 4 | 22821403[PMID] |
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Prevalence and incidence
18 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.77 / 100 000 | Europe | Value and class | Validated | 21351115[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 7.84 / 100 000 | Europe | Value and class | Validated | ORPHANET_9489916[PMID]_18433916[PMID]_23775876[PMID]_7890895[PMID]_20683956[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.1 / 100 000 | Worldwide | Value and class | Validated | 22245904[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.65 / 100 000 | Worldwide | Value and class | Validated | 22245904[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.77 / 100 000 | United States | Value and class | Not yet validated | 14598252[PMID]_21351115[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.81 / 100 000 | United States | Value and class | Not yet validated | 14598252[PMID]_ORPHANET |
| Annual incidence | 1-9 / 100 000 | 1.3 / 100 000 | Norway | Value and class | Validated | 9489916[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.5 / 100 000 | Norway | Value and class | Validated | 9489916[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.22 / 100 000 | Sweden | Value and class | Validated | 22098097[PMID] |
| Point prevalence | 1-5 / 10 000 | 16.2 / 100 000 | Sweden | Value and class | Validated | 20683956[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.66 / 100 000 | United Kingdom | Value and class | Not yet validated | 18433916[PMID]_15188211[PMID]_ ORPHANET |
| Point prevalence | 1-9 / 100 000 | 8.28 / 100 000 | United Kingdom | Value and class | Not yet validated | 18433916[PMID]_15188211[PMID]_ ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.5 / 100 000 | Netherlands | Value and class | Validated | 23775876[PMID] |
| Point prevalence | 1-9 / 100 000 | 6 / 100 000 | Netherlands | Value and class | Validated | 23775876[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.9 / 100 000 | Canada | Value and class | Validated | 17313496[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.07 / 100 000 | Spain | Value and class | Validated | 7890895[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.22 / 100 000 | Spain | Value and class | Validated | 7890895[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | Singapore | Value and class | Validated | 12164967[PMID]_22245904[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
55 annotations · validated 2017-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012440 | Abnormal biliary tract morphology | Diagnostic criterion |
| HP:0002960 | Autoimmunity | |
| HP:0001396 | Cholestasis | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0012700 | Abnormal large intestine physiology | |
| HP:0001541 | Ascites | |
| HP:0001394 | Cirrhosis | |
| HP:0030168 | Dilated superficial abdominal veins | |
| HP:0010638 | Elevated alkaline phosphatase of hepatic origin | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001945 | Fever | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0100869 | Palmar telangiectasia | |
| HP:0001409 | Portal hypertension | |
| HP:0012522 | Spider hemangioma | |
| HP:0001744 | Splenomegaly | |
| HP:0100279 | Ulcerative colitis | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0040275 | Adenocarcinoma of the large intestine | |
| HP:0002608 | Celiac disease | |
| HP:0030153 | Cholangiocarcinoma | |
| HP:0001081 | Cholelithiasis | |
| HP:0100626 | Chronic hepatic failure | |
| HP:0001635 | Congestive heart failure | |
| HP:0000716 | Depression | |
| HP:0012378 | Fatigue | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0012115 | Hepatitis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0000952 | Jaundice | |
| HP:0004905 | Low levels of vitamin A | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0011892 | Low levels of vitamin K | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0001733 | Pancreatitis | |
| HP:0002202 | Pleural effusion | |
| HP:0003459 | Polyclonal elevation of IgM | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0000989 | Pruritus | |
| HP:0000083 | Renal insufficiency | |
| HP:0100646 | Thyroiditis | |
| HP:0100651 | Type I diabetes mellitus | |
| Very rare (<4-1%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0001298 | Encephalopathy | |
| HP:0100575 | Neoplasm of the gallbladder | |
| HP:0000554 | Uveitis | |
| Excluded (0%) | ||
| HP:0001879 | Abnormality of eosinophils | |
| HP:0011034 | Amyloidosis | |
| HP:0100727 | Histiocytosis | |
| HP:0005429 | Recurrent systemic pyogenic infections | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28390159[PMID]_22821403[PMID]_17062136[PMID]_27653566[PMID]_28025879[PMID]_9296539[PMID]_21151127[PMID]_21793028[PMID]_23810223[PMID]_23050548[PMID]_19224956[PMID]_17317411[PMID]_10907383[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171
- This record as JSON: /data/d/171.json