Progressive familial intrahepatic cholestasis type 3

General Information (adopted from Orphanet):

Synonyms, Signs: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE
MDR3 DEFICIENCY
PFIC3
Number of Symptoms 19
OrphanetNr: 79305
OMIM Id: 602347
ICD-10: K83.1
UMLs: C1865643
MeSH: C535935
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[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:0000952) Jaundice 105 / 7739
2
 (HPO:0001744) Splenomegaly 337 / 7739
3
 (HPO:0002240) Hepatomegaly 467 / 7739
4
 (HPO:0002014) Diarrhea 225 / 7739
5
 (HPO:0001394) Cirrhosis 102 / 7739
6
 (HPO:0001408) Bile duct proliferation 22 / 7739
7
 (HPO:0002024) Malabsorption 142 / 7739
8
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
9
 (HPO:0006580) Portal fibrosis 10 / 7739
10
 (HPO:0001406) Intrahepatic cholestasis 16 / 7739
11
 (HPO:0000989) Pruritus 111 / 7739
12
 (HPO:0003593) Infantile onset 249 / 7739
13
 (OMIM) End-stage liver disease before adulthood 3 / 7739
14
 (OMIM) Malabsorption of fat and fat-soluble vitamins 7 / 7739
15
 (OMIM) Nonspecific portal inflammation shown on biopsy 1 / 7739
16
 (OMIM) Abnormal bile duct proliferation shown on biopsy 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Increased serum bile acids 5 / 7739
19
 (OMIM) Increased serum gamma-GGT (231950) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Vree et al. (1998) reported 2 unrelated patients with PFIC3. The first patient was a Turkish boy, born of consanguineous parents, who had recurrent bouts of jaundice from the age of 3 months, when he presented with ...
Molecular genetics OMIM In 2 unrelated patients with PFIC and high serum GGT1, de Vree et al. (1998) identified 2 different homozygous mutations in the ABCB4 gene (171060.0001; 171060.0002).

In a patient with severe PFIC3 requiring liver transplant at ...