Progressive familial intrahepatic cholestasis type 2

General Information (adopted from Orphanet):

Synonyms, Signs: PFIC2
BSEP deficiency
Number of Symptoms 26
OrphanetNr: 79304
OMIM Id: 601847
ICD-10: K83.1
UMLs: C1866138
MeSH: C535934
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Progressive familial intrahepatic cholestasis
 -Rare genetic disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001744) Splenomegaly 337 / 7739
2
 (HPO:0002014) Diarrhea 225 / 7739
3
 (HPO:0001406) Intrahepatic cholestasis 16 / 7739
4
 (HPO:0002630) Fat malabsorption 11 / 7739
5
 (HPO:0002240) Hepatomegaly 467 / 7739
6
 (HPO:0001046) Intermittent jaundice 3 / 7739
7
 (HPO:0001402) Hepatocellular carcinoma 25 / 7739
8
 (HPO:0000952) Jaundice 105 / 7739
9
 (HPO:0001394) Cirrhosis 102 / 7739
10
 (HPO:0001508) Failure to thrive 454 / 7739
11
 (HPO:0001510) Growth delay 295 / 7739
12
 (HPO:0004322) Short stature 1232 / 7739
13
 (HPO:0000989) Pruritus 111 / 7739
14
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
15
 (HPO:0002908) Conjugated hyperbilirubinemia 21 / 7739
16
 (OMIM) Malabsorption of fat and fat-soluble vitamins 7 / 7739
17
 (OMIM) End-stage liver disease before adulthood 3 / 7739
18
 (OMIM) Giant cell transformation shown on biopsy 2 / 7739
19
 (OMIM) Intracanalicular cholestasis shown on biopsy 2 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Increased risk of hepatocellular carcinoma 1 / 7739
22
 (OMIM) Normal or mildly increased serum gamma-GGT (231950) 4 / 7739
23
 (HPO:0003819) Death in childhood 42 / 7739
24
 (OMIM) Increased serum bile acids 5 / 7739
25
 (OMIM) Bridging fibrosis shown on biopsy 2 / 7739
26
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sandor et al. (1976) described brother and sister with 'giant cell hepatitis' in infancy. The male died of a rare primary hepatic cancer; the female died of cirrhosis and hepatic coma. In studying archival material from the family ...
Molecular genetics OMIM In patients with PFIC2, Strautnieks et al. (1998) identified 10 different mutations in the ABCB11 gene (see, e.g., 603201.0001-603201.0004).

Using immunohistochemistry, Jansen et al. (1999) found absence of the BSEP protein in 16 of 28 liver ...