MCID: CHL116
MIFTS: 28

Cholestasis, Intrahepatic, of Pregnancy, 1

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Cholestasis, Intrahepatic, of Pregnancy, 1

MalaCards integrated aliases for Cholestasis, Intrahepatic, of Pregnancy, 1:

Name: Cholestasis, Intrahepatic, of Pregnancy, 1 57 13 73
Icp1 57 75
Recurrent Intrahepatic Cholestasis of Pregnancy 75
Cholestasis, Intrahepatic, of Pregnancy, Type 1 40
Cholestasis of Pregnancy, Intrahepatic 1 75
Cholestasis, Pregnancy-Related, 1 57
Pregnancy-Related Cholestasis 75
Cholestasis of Pregnancy 73
Obstetric Cholestasis 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
occurs during pregnancy, most often in the third trimester
no chronic or permanent liver damage
oral contraceptives may also cause symptoms


HPO:

32
cholestasis, intrahepatic, of pregnancy, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cholestasis, Intrahepatic, of Pregnancy, 1

OMIM : 57 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 abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). (147480)

MalaCards based summary : Cholestasis, Intrahepatic, of Pregnancy, 1, also known as icp1, is related to intrahepatic cholestasis and cholestasis, intrahepatic, of pregnancy 3, and has symptoms including pruritus of pregnancy An important gene associated with Cholestasis, Intrahepatic, of Pregnancy, 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1). The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and testes, and related phenotypes are pruritus and elevated hepatic transaminases

UniProtKB/Swiss-Prot : 75 Cholestasis of pregnancy, intrahepatic 1: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery.

Related Diseases for Cholestasis, Intrahepatic, of Pregnancy, 1

Diseases in the Cholestasis, Intrahepatic, of Pregnancy 3 family:

Cholestasis, Intrahepatic, of Pregnancy, 1

Diseases related to Cholestasis, Intrahepatic, of Pregnancy, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intrahepatic cholestasis 11.2
2 cholestasis, intrahepatic, of pregnancy 3 10.9
3 cholestasis 10.4
4 placenta disease 9.9
5 diabetes mellitus 9.7
6 gestational diabetes 9.7

Graphical network of the top 20 diseases related to Cholestasis, Intrahepatic, of Pregnancy, 1:



Diseases related to Cholestasis, Intrahepatic, of Pregnancy, 1

Symptoms & Phenotypes for Cholestasis, Intrahepatic, of Pregnancy, 1

Symptoms via clinical synopsis from OMIM:

57
Prenatal Manifestations Delivery:
premature delivery
intrauterine fetal death

Laboratory Abnormalities:
abnormal liver function tests during pregnancy, resolves postpartum
increased serum bile acid concentration during pregnancy, resolves postpartum

Prenatal Manifestations Movement:
fetal distress

Abdomen Liver:
intrahepatic cholestasis during pregnancy, resolves postpartum
abnormal liver function tests during pregnancy, resolves postpartum
hepatic fibrosis seen on biopsy (in some patients)
ductal proliferation seen on biopsy (in some patients)

Skin Nails Hair Skin:
pruritus during pregnancy, resolves postpartum
jaundice (in some patients), resolved postpartum


Clinical features from OMIM:

147480

Human phenotypes related to Cholestasis, Intrahepatic, of Pregnancy, 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 elevated hepatic transaminases 32 HP:0002910
3 premature birth 32 HP:0001622
4 intrahepatic cholestasis 32 HP:0001406
5 fetal distress 32 HP:0025116
6 abnormal liver function tests during pregnancy 32 HP:0200148
7 increased serum bile acid concentration during pregnancy 32 HP:0200150

UMLS symptoms related to Cholestasis, Intrahepatic, of Pregnancy, 1:


pruritus of pregnancy

Drugs & Therapeutics for Cholestasis, Intrahepatic, of Pregnancy, 1

Drugs for Cholestasis, Intrahepatic, of Pregnancy, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Integrated Care Pathway for Youth Depression Recruiting NCT03428555 Not Applicable

Search NIH Clinical Center for Cholestasis, Intrahepatic, of Pregnancy, 1

Genetic Tests for Cholestasis, Intrahepatic, of Pregnancy, 1

Anatomical Context for Cholestasis, Intrahepatic, of Pregnancy, 1

MalaCards organs/tissues related to Cholestasis, Intrahepatic, of Pregnancy, 1:

41
Liver, Small Intestine, Testes

Publications for Cholestasis, Intrahepatic, of Pregnancy, 1

Articles related to Cholestasis, Intrahepatic, of Pregnancy, 1:

# Title Authors Year
1
Severe First Trimester Recurrent Intrahepatic Cholestasis of Pregnancy: A Case Report and Literature Review. ( 26929868 )
2016
2
Recurrent intrahepatic cholestasis of pregnancy. A case report. ( 18836627 )
2008
3
Recurrent intrahepatic cholestasis of pregnancy: ursodeoxycholic acid should be the first line of treatment. ( 19104716 )
2008
4
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]. ( 18188816 )
2008
5
Recurrent intrahepatic cholestasis of pregnancy. ( 3473670 )
1987
6
Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait. ( 6852450 )
1983
7
Recurrent intrahepatic cholestasis of pregnancy. Report of six cases, and review of the literature. ( 6043995 )
1967
8
RECURRENT INTRAHEPATIC CHOLESTASIS OF PREGNANCY: OBSERVATIONS ON PATHOGENESIS. ( 14326722 )
1965

Variations for Cholestasis, Intrahepatic, of Pregnancy, 1

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Intrahepatic, of Pregnancy, 1:

75
# Symbol AA change Variation ID SNP ID
1 ATP8B1 p.Asn45Thr VAR_043044 rs146599962
2 ATP8B1 p.Lys203Glu VAR_043047 rs56355310
3 ATP8B1 p.Arg867Cys VAR_043072 rs121909103

ClinVar genetic disease variations for Cholestasis, Intrahepatic, of Pregnancy, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP8B1 NM_005603.4(ATP8B1): c.2599C> T (p.Arg867Cys) single nucleotide variant Pathogenic rs121909103 GRCh37 Chromosome 18, 55328514: 55328514
2 ATP8B1 NM_005603.4(ATP8B1): c.2599C> T (p.Arg867Cys) single nucleotide variant Pathogenic rs121909103 GRCh38 Chromosome 18, 57661282: 57661282
3 ATP8B1 NM_005603.5(ATP8B1): c.2286-2A> G single nucleotide variant Pathogenic rs377132123 GRCh37 Chromosome 18, 55329849: 55329849
4 ATP8B1 NM_005603.5(ATP8B1): c.2286-2A> G single nucleotide variant Pathogenic rs377132123 GRCh38 Chromosome 18, 57662617: 57662617

Expression for Cholestasis, Intrahepatic, of Pregnancy, 1

Search GEO for disease gene expression data for Cholestasis, Intrahepatic, of Pregnancy, 1.

Pathways for Cholestasis, Intrahepatic, of Pregnancy, 1

GO Terms for Cholestasis, Intrahepatic, of Pregnancy, 1

Sources for Cholestasis, Intrahepatic, of Pregnancy, 1

3 CDC
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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