ORPHA:69665
Intrahepatic cholestasis of pregnancy
Synonyms: Gravidic intrahepatic cholestasis · Pregnancy-related cholestasis · Recurrent intrahepatic cholestasis of pregnancy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intrahepatic cholestasis of pregnancy | Gravidic intrahepatic cholestasis · Pregnancy-related cholestasis · Recurrent intrahepatic cholestasis of pregnancy |
| fr | Cholestase intrahépatique gestationnelle | Cholestase de la grossesse · Cholestase gravidique intrahépatique · Cholestase intrahépatique gestationnelle récidivante |
| de | Schwangerschaftscholestase, intrahepatische | Cholestase, schwangerschaftsbedingte · Schwangerschaftscholestase, intrahepatische rekurrente |
| es | Colestasis intrahepática gestacional | Colestasis asociada al embarazo · Colestasis intrahepática gravídica · Colestasis intrahepática recurrente del embarazo |
| it | Colestasi intraepatica della gravidanza | Colestasi associata alla gravidanza · Colestasi intraepatica gravidica · Colestasi intraepatica ricorrente della gravidanza |
| nl | Intrahepatische zwangerschapscholestase | Terugkerende intrahepatische zwangerschapscholestase · Zwangerschapscholestase |
| pt | Colestase intra-hepática da gravidez | Colestase intra-hepática recorrente da gravidez · Colestase relacionada com a gravidez |
| pl | Cholestaza wewnątrzwątrobowa ciężarnych | Cholestaza wewnątrzwątrobowa ciężarnych · Cholestaza związana z ciążą · Nawracająca cholestaza wewnątrzwątrobowa ciężarnych |
| cs | Intrahepatální cholestáza v těhotenství | Intrahepatální těhotenská cholestáza · Těhotenská cholestáza · Rekurentní intrahepatální cholestáza v těhotenství |
| uk | Внутрішньопечінковий холестаз вагітних | Гравітаційний внутрішньопечінковий холестаз · Холестаз, повязаний з вагітністю · Рецидивуючий внутрішньопечінковий холестаз вагітності |
| zh | 妊娠肝内胆汁淤积症 | 妊娠复发性肝内胆汁淤积 |
| tr | İntrahepatik gebelik kolestazı | Gebelik-ilişkili kolestaz · Gravidik intrahepatik kolestaz · Tekrarlayan intrahepatik gebelik kolestazı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147480 | BTNT | validated | |
| OMIM | 614972 | BTNT | validated | |
| ICD-10 | O26.6 | NTBT | inclusion | validated |
| ICD-11 | JA65.0 | NTBT | index | validated |
| MONDO | 0100429 | E | validated | |
| MeSH | C535932 | E | validated | |
| UMLS | C0268318 | E | validated | |
| GARD | 9804 | 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 (2):
- ORPHA:163637Rare disorder related with pregnancy, childbirth and puerperium
rare gynecological and obstetric diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NR1H4 | Candidate gene tested in | Not yet assessed | HGNC:7967 | ENSG00000012504 | 603826 | 12q23.1 | nuclear receptor subfamily 1 group H member 4 | 23142591[PMID] |
| ABCB11 | Major susceptibility factor in | Assessed | HGNC:42 | ENSG00000073734 | 603201 | 2q31.1 | ATP binding cassette subfamily B member 11 | 23022423[PMID] |
| ABCB4 | Major susceptibility factor in | Assessed | HGNC:45 | ENSG00000005471 | 171060 | 7q21.12 | ATP binding cassette subfamily B member 4 | 23022423[PMID] |
| ATP8B1 | Major susceptibility factor in | Assessed | HGNC:3706 | ENSG00000081923 | 602397 | 18q21.31 | ATPase phospholipid transporting 8B1 | 15888793[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET_22892336[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
27 annotations · validated 2021-01-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012202 | Increased serum bile acid concentration | |
| HP:0000989 | Pruritus | |
| Frequent (79-30%) | ||
| HP:0025031 | Abnormality of the digestive system | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0100785 | Insomnia | |
| Occasional (29-5%) | ||
| HP:0011117 | Abnormal circulating interleukin concentration | |
| HP:0012689 | Abnormal pineal melatonin secretion | |
| HP:0000716 | Depression | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0012420 | Meconium stained amniotic fluid | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0031248 | Palmar pruritus | |
| HP:0100602 | Preeclampsia | |
| HP:0030900 | Pruritus on foot | |
| Very rare (<4-1%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0001541 | Ascites | |
| HP:0012164 | Asterixis | |
| HP:0001082 | Cholecystitis | |
| HP:0000821 | Hypothyroidism | |
| HP:0000952 | Jaundice | |
| HP:0001622 | Premature birth | |
| HP:0001518 | Small for gestational age | |
| HP:0001337 | Tremor | |
| Excluded (0%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0000988 | Skin rash | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32034507[PMID]_32942322[PMID]_31355915[PMID]_29480924[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69665
- This record as JSON: /data/d/69665.json