CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1

General Information (adopted from Orphanet):

Synonyms, Signs: CHOLESTASIS, PREGNANCY-RELATED, 1
ICP1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 147480
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001622) Premature birth 100 / 7739
2
(HPO:0200148) Abnormal liver function tests during pregnancy 3 / 7739
3
(OMIM) Increased serum bile acid concentration during pregnancy, resolves postpartum 2 / 7739
4
(OMIM) Jaundice (in some patients), resolved postpartum 2 / 7739
5
(OMIM) Ductal proliferation seen on biopsy (in some patients) 3 / 7739
6
(OMIM) Intrahepatic cholestasis during pregnancy, resolves postpartum 2 / 7739
7
(OMIM) Hepatic fibrosis seen on biopsy (in some patients) 2 / 7739
8
(OMIM) Fetal distress 4 / 7739
9
(OMIM) Intrauterine fetal death 2 / 7739
10
(OMIM) Pruritus during pregnancy, resolves postpartum 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and ...
Clinical Description OMIM Intrahepatic cholestasis of pregnancy was reported in sisters by Svanborg and Ohlsson (1959), Cahill (1962), and Fast and Roulston (1964).

Holzbach and Sanders (1965) reported a mother and 2 daughters with recurrent ICP characterized by generalized ...

Molecular genetics OMIM In 4 of 182 unrelated patients with ICP1, Mullenbach et al. (2005) identified heterozygous mutations in the ATP8B1 gene (602397.0010; 602397.0011).
Population genetics OMIM ICP affects approximately 0.5 to 0.7% of all pregnancies in the UK (Mullenbach et al., 2005).