ORPHA:172
Progressive familial intrahepatic cholestasis
Synonyms: PFIC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive familial intrahepatic cholestasis | PFIC |
| fr | Cholestase intrahépatique progressive familiale | = en |
| de | Cholestase, familiäre intrahepatische progressive | = en |
| es | Colestasis intrahepática familiar progresiva | |
| it | Colestasi progressiva familiare intraepatica | = en |
| nl | Progressieve familiale intrahepatische cholestase | = en |
| pt | Colestase intra-hepática progressiva familiar | CIPF |
| pl | Postępująca rodzinna cholestaza wewnątrzwątrobowa | = en |
| cs | Progresivní familiární intrahepatální cholestáza | = en |
| uk | Прогресуючий сімейний внутрішньопечінковий холестаз | = en |
| zh | 进行性家族性肝内胆汁淤积症 | = en |
| tr | ilerleyici ailesel intrahepatik kolestaz | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211600 | BTNT | validated | |
| OMIM | 601847 | BTNT | validated | |
| OMIM | 602347 | BTNT | validated | |
| OMIM | 615878 | BTNT | not yet validated | |
| OMIM | 617049 | BTNT | validated | |
| OMIM | 619484 | BTNT | validated | |
| OMIM | 619662 | BTNT | validated | |
| OMIM | 619849 | BTNT | validated | |
| OMIM | 619868 | BTNT | validated | |
| OMIM | 620010 | BTNT | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.03 | E | specific | validated |
| MONDO | 0015762 | E | validated | |
| MedDRA | 10076033 | 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:309816Disorder of bilirubin metabolism and excretion
rare inborn errors of metabolism; rare genetic diseases - ORPHA:284385Familial intrahepatic cholestasis
rare genetic diseases; rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
Children (7):
- ORPHA:168583Hereditary North American Indian childhood cirrhosis
- ORPHA:480491MYO5B-related progressive familial intrahepatic cholestasis
- ORPHA:79306Progressive familial intrahepatic cholestasis type 1
- ORPHA:79304Progressive familial intrahepatic cholestasis type 2
- ORPHA:79305Progressive familial intrahepatic cholestasis type 3
- ORPHA:480483Progressive familial intrahepatic cholestasis type 4
- ORPHA:480476Progressive familial intrahepatic cholestasis type 5
4
Genes
0 direct · 8 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ABCB11 | ORPHA:79304Progressive familial intrahepatic cholestasis type 2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:42 | ENSG00000073734 | 603201 | 2q31.1 | ATP binding cassette subfamily B member 11 | 9806540[PMID]_15791618[PMID] |
| ABCB4 | ORPHA:79305Progressive familial intrahepatic cholestasis type 3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:45 | ENSG00000005471 | 171060 | 7q21.12 | ATP binding cassette subfamily B member 4 | 17726488[PMID]_21119540[PMID] |
| NR1H4 | ORPHA:480476Progressive familial intrahepatic cholestasis type 5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7967 | ENSG00000012504 | 603826 | 12q23.1 | nuclear receptor subfamily 1 group H member 4 | 26888176[PMID] |
| ATP8B1 | ORPHA:79306Progressive familial intrahepatic cholestasis type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3706 | ENSG00000081923 | 602397 | 18q21.31 | ATPase phospholipid transporting 8B1 | 20301474[PMID] |
| MYO5B | ORPHA:79306Progressive familial intrahepatic cholestasis type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7603 | ENSG00000167306 | 606540 | 18q21.1 | myosin VB | 27532546[PMID] |
| MYO5B | ORPHA:480491MYO5B-related progressive familial intrahepatic cholestasis | Disease-causing germline mutation(s) in | Assessed | HGNC:7603 | ENSG00000167306 | 606540 | 18q21.1 | myosin VB | 27532546[PMID] |
| TJP2 | ORPHA:480483Progressive familial intrahepatic cholestasis type 4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11828 | ENSG00000119139 | 607709 | 9q21.11 | tight junction protein 2 | 26983395[PMID]_24614073[PMID] |
| UTP4 | ORPHA:168583Hereditary North American Indian childhood cirrhosis | Disease-causing germline mutation(s) in | Assessed | HGNC:1983 | ENSG00000141076 | 607456 | 16q22.1 | UTP4 small subunit processome component | 12417987[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0001396 | Cholestasis | |
| HP:0100543 | Cognitive impairment | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0000952 | Jaundice | |
| HP:0002024 | Malabsorption | |
| HP:0004322 | Short stature | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002901 | Hypocalcemia | |
| HP:0004349 | Reduced bone mineral density | |
| Occasional (29-5%) | ||
| HP:0002664 | Neoplasm | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/172
- This record as JSON: /data/d/172.json