CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3

General Information (adopted from Orphanet):

Synonyms, Signs: ICP3
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614972
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive 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:0001406) Intrahepatic cholestasis 16 / 7739
3
(HPO:0000952) Jaundice 105 / 7739
4
(HPO:0200148) Abnormal liver function tests during pregnancy 3 / 7739
5
(HPO:0000989) Pruritus 111 / 7739
6
(HPO:0200150) Increased serum bile acid concentration during pregnancy 2 / 7739
7
(OMIM) Hepatic fibrosis seen on biopsy (in some patients) 2 / 7739
8
(OMIM) Ductal proliferation seen on biopsy (in some patients) 3 / 7739
9
(OMIM) Fetal distress 4 / 7739
10
(HPO:0000007) Autosomal recessive inheritance rare [HPO:skoehler] 2538 / 7739
11
(OMIM) Increased serum bile acid concentration during pregnancy, resolves postpartum 2 / 7739
12
(OMIM) Intrahepatic cholestasis during pregnancy, resolves postpartum 2 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Pruritus during pregnancy, resolves postpartum 2 / 7739
15
(OMIM) Intrauterine fetal death 2 / 7739
16
(OMIM) Jaundice (in some patients), resolved 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 De Vree et al. (1998) reported a woman of North African descent who developed recurrent episodes of intrahepatic cholestasis of pregnancy. Her son had severe PFIC3 necessitating liver transplant.

Jacquemin et al. (1999) reported a family ...

Molecular genetics OMIM In a woman of North African descent with ICP3, de Vree et al. (1998) identified a heterozygous mutation in the ABCB4 gene (R957X; 171060.0002). Her son, who had progressive familial intrahepatic cholestasis (PFIC3; 602347), was homozygous for the ...